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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PDE6C	5146	broad.mit.edu	37	10	95385332	95385332	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:95385332G>A	ENST00000371447.3	+	5	1003	c.864_splice	c.e5-1	p.E289_splice		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	289	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGCCTCCAGGAATTCTACGA	0.378000													25	12					0	0	1	0	0
ZNF320	162967	broad.mit.edu	37	19	53377316	53377316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53377316G>A	ENST00000597909.1	-	5	388	c.152C>T	c.(151-153)tCc>tTc	p.S51F				A2RRD8	ZN320_HUMAN	zinc finger protein 320	51	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		TAAGTCTCTGGAAATCAATCC	0.418000													4	23					0	0	1	0	0
RBBP4	5928	broad.mit.edu	37	1	33135134	33135134	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:33135134C>T	ENST00000373493.5	+	8	1095	c.936C>T	c.(934-936)tcC>tcT	p.S312S	RBBP4_ENST00000544435.1_Silent_p.S60S|RBBP4_ENST00000373485.1_Silent_p.S312S|RBBP4_ENST00000458695.2_Silent_p.S277S|RBBP4_ENST00000414241.3_Silent_p.S311S	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	312					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGTTGCATTCCTTTGAGTCAC	0.353000													24	2					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450679	105450679	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:105450679G>A	ENST00000337685.2	+	5	2039	c.1254G>A	c.(1252-1254)agG>agA	p.R418R	MUM1L1_ENST00000357175.2_Silent_p.R418R|MUM1L1_ENST00000372552.1_Silent_p.R418R	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	418	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAAAAGAGAGGAAAGCAAGTG	0.333000													20	0					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44052093	44052093	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:44052093A>C	ENST00000260645.1	-	7	978	c.839T>G	c.(838-840)aTg>aGg	p.M280R	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	280	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GAAATCAAGCATTTCCGCTGG	0.433000													218	69					0	0	1	0	0
LILRB3	11025	broad.mit.edu	37	19	54721255	54721255	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54721255G>A	ENST00000391750.1	-	13	1818	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	LILRA6_ENST00000419410.2_Missense_Mutation_p.S562L|LILRB3_ENST00000407860.2_Missense_Mutation_p.S578L|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000270464.5_Missense_Mutation_p.S562L|LILRA6_ENST00000440558.2_Missense_Mutation_p.S561L|LILRB3_ENST00000469273.1_5'UTR|LILRB3_ENST00000424807.1_Missense_Mutation_p.S561L|LILRB3_ENST00000245620.9_Missense_Mutation_p.S562L|LILRB3_ENST00000346401.6_Missense_Mutation_p.S573L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	561				S -> P (in Ref. 2; AAB87667).	cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCAGACAGTGAGGAGGGAGG	0.587000													12	44					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56925785	56925785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56925785G>A	ENST00000333201.9	+	4	418	c.208G>A	c.(208-210)Gag>Aag	p.E70K	ZNF583_ENST00000291598.7_Missense_Mutation_p.E70K	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		GGTGAAGAAGGAGGGAACAAG	0.443000													49	80					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135432445	135432445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:135432445C>T	ENST00000394143.1	+	6	6871	c.6580C>T	c.(6580-6582)Cca>Tca	p.P2194S	GPR112_ENST00000287534.4_Missense_Mutation_p.P2131S|GPR112_ENST00000412101.1_Missense_Mutation_p.P1989S|GPR112_ENST00000394141.1_Missense_Mutation_p.P1989S|GPR112_ENST00000370652.1_Missense_Mutation_p.P2194S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2194					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCCTCATTTCCACTCATATC	0.428000													68	5					0	0	1	0	0
HBB	3043	broad.mit.edu	37	11	5247821	5247821	+	Missense_Mutation	SNP	G	G	A	rs63750556		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5247821G>A	ENST00000335295.3	-	2	476	c.301C>T	c.(301-303)Cct>Tct	p.P101S		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	101			P -> L (in Brigham; O(2) affinity up).|P -> R (in New Mexico).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	AAGTTCTCAGGATCCACGTGC	0.502000									Sickle Cell Trait				8	56					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3245068	3245068	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3245068G>A	ENST00000520002.1	-	19	3288	c.2733C>T	c.(2731-2733)ccC>ccT	p.P911P	CSMD1_ENST00000539096.1_Silent_p.P910P|CSMD1_ENST00000400186.3_Silent_p.P911P|CSMD1_ENST00000602557.1_Silent_p.P911P|CSMD1_ENST00000537824.1_Silent_p.P910P|CSMD1_ENST00000542608.1_Silent_p.P910P|CSMD1_ENST00000602723.1_Silent_p.P911P			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	911	Sushi 5.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CACAGACGAGGGGCTCGTCGT	0.597000													3	7					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473406	53473406	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53473406G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							TGAATTACAAGGGATGACTTG	0.388000													6	30					0	0	1	0	0
PTPRU	10076	broad.mit.edu	37	1	29609321	29609321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:29609321G>A	ENST00000356870.3	+	12	2112	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K	PTPRU_ENST00000460170.2_Missense_Mutation_p.E668K|PTPRU_ENST00000428026.2_Missense_Mutation_p.E668K|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.E668K|PTPRU_ENST00000345512.3_Missense_Mutation_p.E668K|PTPRU_ENST00000323874.8_Missense_Mutation_p.E668K	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	668	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CTTCGGGGCCGAACTGGCGGC	0.657000													44	7					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67808488	67808488	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:67808488C>T	ENST00000422365.2	+	11	1534	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	MCMDC2_ENST00000541540.1_Nonsense_Mutation_p.Q392*|MCMDC2_ENST00000396592.3_Nonsense_Mutation_p.Q455*|MCMDC2_ENST00000313616.5_Nonsense_Mutation_p.Q455*	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	455					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						TTTTCCAGTTCAGTGCAGTTT	0.388000													33	38					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509277	71509277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71509277G>A	ENST00000396073.3	+	9	2415	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	712					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AAAACCAAGGGAGGATTTTTA	0.408000													24	43					0	0	1	0	0
ACTN1	87	broad.mit.edu	37	14	69352141	69352141	+	Splice_Site	SNP	C	C	T	rs112578863		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:69352141C>T	ENST00000193403.6	-	12	1769		c.e12+1		ACTN1_ENST00000376839.3_Splice_Site|ACTN1_ENST00000538545.2_Splice_Site|ACTN1_ENST00000438964.2_Splice_Site|ACTN1_ENST00000394419.4_Splice_Site	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1						focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGGCCACCTACTTGAGCTCCT	0.642000													13	29					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453631	84453631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:84453631G>A	ENST00000377084.2	-	1	2897	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	671						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTGCCAGTAGGAAGAGTCACA	0.537000													8	22					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92733260	92733260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92733260C>T	ENST00000379958.2	-	3	2420	c.2151G>A	c.(2149-2151)atG>atA	p.M717I		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	717						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AGTTTTGAATCATTGCTTCAA	0.388000													34	156					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18633627	18633627	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:18633627G>A	ENST00000406451.3	+	6	780	c.630G>A	c.(628-630)aaG>aaA	p.K210K	HDAC9_ENST00000417496.2_Silent_p.K252K|HDAC9_ENST00000401921.1_Silent_p.K213K|HDAC9_ENST00000456174.2_Silent_p.K182K|HDAC9_ENST00000406072.1_Silent_p.K241K|HDAC9_ENST00000428307.2_Silent_p.K210K|HDAC9_ENST00000432645.2_Silent_p.K210K|HDAC9_ENST00000405010.3_Silent_p.K210K|HDAC9_ENST00000524023.1_Silent_p.K177K|HDAC9_ENST00000441542.2_Silent_p.K213K	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	210	Interaction with MAPK10 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AAGATGCAAAGGATGATTTCC	0.453000													22	126					0	0	1	0	0
CHRNA5	1138	broad.mit.edu	37	15	78873221	78873221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:78873221G>A	ENST00000299565.5	+	2	375	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CHRNA5_ENST00000559554.1_Missense_Mutation_p.E59K	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	59					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TCAAGACTACGAAAGATGGGT	0.328000													45	32					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	142012121	142012121	+	Missense_Mutation	SNP	C	C	T	rs145092192		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:142012121C>T	ENST00000389484.3	-	4	1404	c.433G>A	c.(433-435)Gaa>Aaa	p.E145K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	145	EGF-like 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E145K(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGTTATTTCGAATCCATCC	0.343000										TSP Lung(27;0.18)			27	15					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844299	131844299	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:131844299C>T	ENST00000359827.3	-	25	5555	c.4593G>A	c.(4591-4593)aaG>aaA	p.K1531K	PLXNA4_ENST00000321063.4_Silent_p.K1531K			Q9HCM2	PLXA4_HUMAN	plexin A4	1531						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCAGAATCTTCTCCTTGA	0.552000													87	130					0	0	1	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290316	132290316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:132290316C>T	ENST00000295171.6	+	5	976	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	CCDC74A_ENST00000409856.3_Missense_Mutation_p.R214C|CCDC74A_ENST00000467992.2_3'UTR	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	280										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						AGTGCTCATCCGCGAGCTGTG	0.672000													40	34					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666725	57666725	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57666725G>A	ENST00000554048.2	-	5	453	c.454C>T	c.(454-456)Cga>Tga	p.R152*		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CTAGATCTTCGATTTTGGAAC	0.383000													7	42					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410754	153410754	+	Missense_Mutation	SNP	G	G	A	rs140012440		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153410754G>A	ENST00000368725.2	-	2	84	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGTATTGGCGAAACATCGCG	0.443000													20	80					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133941393	133941393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133941393C>T	ENST00000220616.4	+	23	4812	c.4772C>T	c.(4771-4773)tCc>tTc	p.S1591F	TG_ENST00000542445.1_Missense_Mutation_p.S25F|TG_ENST00000377869.1_Missense_Mutation_p.S1534F	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1591					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTGTCAGATCCAAAGTTCCT	0.453000													20	40					0	0	1	0	0
F8	2157	broad.mit.edu	37	X	154157412	154157412	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:154157412C>T	ENST00000360256.4	-	14	4853	c.4653G>A	c.(4651-4653)gcG>gcA	p.A1551A		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1551	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACTTAATCGCTCCCTCTG	0.483000													42	70					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36691047	36691047	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:36691047G>A	ENST00000216181.5	-	27	3791	c.3561C>T	c.(3559-3561)atC>atT	p.I1187I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1187					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCATCTCCTGGATCTGGGCCT	0.622000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				52	117					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256963	24256963	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24256963C>T	ENST00000538205.1	+	11	1297	c.750C>T	c.(748-750)tcC>tcT	p.S250S	ADAMDEC1_ENST00000522298.1_Silent_p.S250S|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000256412.4_Silent_p.S329S	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	329	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CCTTGTGTTCCCCATCTTCGG	0.418000													23	49					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25152461	25152461	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25152461C>T	ENST00000332271.5	-	5	983	c.567G>A	c.(565-567)gaG>gaA	p.E189E	PIWIL3_ENST00000533313.1_Silent_p.E80E|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Silent_p.E80E	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	189					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACTTAACCCGCTCTTTTAGTG	0.328000													7	14					0	0	1	0	0
MAP4	4134	broad.mit.edu	37	3	47969824	47969824	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47969824G>A	ENST00000426837.2	-	5	447	c.360C>T	c.(358-360)ttC>ttT	p.F120F	MAP4_ENST00000383737.4_Silent_p.F103F|MAP4_ENST00000360240.6_Silent_p.F103F|MAP4_ENST00000395734.3_Silent_p.F103F			P27816	MAP4_HUMAN	microtubule-associated protein 4	103					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TCTCTTCAAGGAATTCAGTTG	0.398000													38	25					0	0	1	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204197961	204197961	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:204197961G>T	ENST00000272203.3	-	20	3096	c.2780C>A	c.(2779-2781)cCt>cAt	p.P927H	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P947H	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	927										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GTACCGTTCAGGGATGAGGAC	0.562000													30	69					4.22769e-11	4.25885e-11	1	1	0
STS	412	broad.mit.edu	37	X	7171306	7171306	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:7171306G>A	ENST00000217961.4	+	2	301	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	27					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CATCAAGGCCGAACATCATCC	0.498000									Ichthyosis				25	16					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	42080619	42080619	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42080619C>T	ENST00000400454.1	-	2	599	c.122G>A	c.(121-123)gGg>gAg	p.G41E		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	41	Ig-like C2-type 1.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CACCAGAGTCCCCGTGGTGCT	0.572000													30	118					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94897975	94897975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:94897975G>A	ENST00000289495.5	+	11	2929	c.2713G>A	c.(2713-2715)Gat>Aat	p.D905N	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D905N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D905N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D927N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D905N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D905N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	905	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAGACTGTATGATAGTGTTAG	0.483000										HNSCC(28;0.073)			35	51					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1741960	1741960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:1741960G>A	ENST00000397196.2	+	3	449	c.217G>A	c.(217-219)Ggg>Agg	p.G73R	WNT5B_ENST00000542408.1_Missense_Mutation_p.G73R|WNT5B_ENST00000310594.3_Missense_Mutation_p.G73R|WNT5B_ENST00000537031.1_Missense_Mutation_p.G73R	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	73				G -> R (in Ref. 1; AAG38659).	angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCCTACATAGGGGAGGGAGC	0.597000													4	111					0	0	1	0	0
IPCEF1	26034	broad.mit.edu	37	6	154480970	154480970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:154480970G>A	ENST00000265198.4	-	12	1462	c.1307C>T	c.(1306-1308)tCc>tTc	p.S436F	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Missense_Mutation_p.S437F|IPCEF1_ENST00000519344.1_Missense_Mutation_p.S408F|IPCEF1_ENST00000422970.2_Missense_Mutation_p.S437F	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1									p.S436F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GTCTCAAATGGAATTTTCAAC	0.428000													15	14					0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193348	7193348	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7193348C>T	ENST00000007699.5	-	6	850	c.787G>A	c.(787-789)Ggg>Agg	p.G263R		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	263	Pro-rich.|Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TGTTGGTGCCCCTCCAATGGG	0.637000													34	83					0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37036078	37036078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:37036078G>A	ENST00000379242.3	+	15	2155	c.1853G>A	c.(1852-1854)gGg>gAg	p.G618E	VIT_ENST00000379241.3_Missense_Mutation_p.G581E|VIT_ENST00000404084.1_Missense_Mutation_p.G555E|VIT_ENST00000497382.1_Missense_Mutation_p.G272E|VIT_ENST00000389975.3_Missense_Mutation_p.G603E|VIT_ENST00000401530.1_Missense_Mutation_p.G582E	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	603	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATCACCGACGGGAGGTCCTAC	0.602000													10	114					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371727	126371727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126371727G>A	ENST00000394329.3	+	9	9569	c.9556G>A	c.(9556-9558)Gat>Aat	p.D3186N	FAT4_ENST00000335110.5_Missense_Mutation_p.D1484N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3186	Cadherin 30.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D3186Y(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAATGTGATTGATGTGAATGA	0.408000													16	65					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117168952	117168952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:117168952G>A	ENST00000362057.3	-	9	2087	c.1919C>T	c.(1918-1920)tCc>tTc	p.S640F	DFNB31_ENST00000374059.3_Missense_Mutation_p.S289F|DFNB31_ENST00000265134.6_Missense_Mutation_p.S257F	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	640	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGTGCAGAGGAGGTCCCTGG	0.672000													44	4					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700722	30700722	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30700722C>T	ENST00000256246.2	-	1	5886	c.5812G>A	c.(5812-5814)Gat>Aat	p.D1938N		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1938										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGTTTAAATCTTTAGACAAA	0.353000													36	25					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100341729	100341729	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:100341729C>T	ENST00000437033.2	-	6	1289	c.786G>A	c.(784-786)gtG>gtA	p.V262V	ADH7_ENST00000482593.1_Silent_p.V205V|ADH7_ENST00000209665.4_Silent_p.V274V|ADH7_ENST00000476959.1_Silent_p.V282V			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	274					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	AGGTGTATCCCACGTTGTTGC	0.448000													11	68					0	0	1	0	0
MGAT5	4249	broad.mit.edu	37	2	135095839	135095839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135095839C>T	ENST00000409645.1	+	7	907	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	MGAT5_ENST00000281923.2_Missense_Mutation_p.R219C			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	219					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GGCGGAAATTCGTACAGATTT	0.368000													9	30					0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7334879	7334879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7334879G>A	ENST00000318881.6	+	3	988	c.751G>A	c.(751-753)Gac>Aac	p.D251N	SYT9_ENST00000396716.2_Missense_Mutation_p.D219N	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	251	C2 1.					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)		GCCCGCCAAGGACTTTTCTGG	0.418000													14	84					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42763247	42763247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:42763247C>T	ENST00000379274.2	+	15	1735	c.1306C>T	c.(1306-1308)Cct>Tct	p.P436S	DGKH_ENST00000538674.1_Missense_Mutation_p.P327S|DGKH_ENST00000536612.1_Missense_Mutation_p.P436S|DGKH_ENST00000337343.4_Missense_Mutation_p.P572S|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.P572S|DGKH_ENST00000261491.4_Missense_Mutation_p.P572S			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	572	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCCTGTTCTCCCTGGCCTCAG	0.512000													40	17					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103230146	103230146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103230146C>T	ENST00000428762.1	-	28	4201	c.4042G>A	c.(4042-4044)Gaa>Aaa	p.E1348K	RELN_ENST00000343529.5_Missense_Mutation_p.E1348K|RELN_ENST00000424685.2_Missense_Mutation_p.E1348K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1348					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAGTTTCCTTCGCATCCTTTG	0.473000													24	97					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61944500	61944500	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61944500T>C	ENST00000422202.1	+	16	2197	c.2129T>C	c.(2128-2130)gTc>gCc	p.V710A	COL20A1_ENST00000435874.1_Missense_Mutation_p.V710A|COL20A1_ENST00000326996.6_Missense_Mutation_p.V703A|COL20A1_ENST00000358894.6_Missense_Mutation_p.V703A			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	703	Fibronectin type-III 5.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCACGGCCGTCCTGCCTGGC	0.672000													13	24					0	0	1	0	0
ADCY9	115	broad.mit.edu	37	16	4042326	4042326	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:4042326G>A	ENST00000294016.3	-	5	2566	c.2028C>T	c.(2026-2028)ctC>ctT	p.L676L	ADCY9_ENST00000571889.1_Intron	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	676					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAGGGCTGAGGAGCCCGTTCT	0.587000													13	38					0	0	1	0	0
MIR646HG	284757	broad.mit.edu	37	20	58883535	58883535	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58883535C>T	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						gcctggagatcaggagtctgc	0.577000													16	81					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864735	13864735	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13864735A>G	ENST00000265104.4	-	28	4471	c.4367T>C	c.(4366-4368)cTt>cCt	p.L1456P	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1456	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCCCGGGGAAGCTTTCGACA	0.458000									Kartagener syndrome				26	14					0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81373730	81373730	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81373730G>A	ENST00000398636.3	+	6	746	c.608G>A	c.(607-609)gGg>gAg	p.G203E	SFTPA1_ENST00000428376.2_Missense_Mutation_p.G203E|SFTPA1_ENST00000372308.3_Missense_Mutation_p.G203E|SFTPA1_ENST00000419470.2_Missense_Mutation_p.G218E|SFTPA1_ENST00000372313.5_Missense_Mutation_p.G144E	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	203	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TACTCAGACGGGACCCCTGTA	0.547000													187	96					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179561850	179561850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179561850G>A	ENST00000444136.1	+	2	350	c.100G>A	c.(100-102)Gag>Aag	p.E34K	TDRD5_ENST00000294848.8_Missense_Mutation_p.E34K|TDRD5_ENST00000367614.1_Missense_Mutation_p.E34K	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	34	Lotus/OST-HTH 1.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTTGGAGAAGGAGTACCTTTT	0.473000													112	91					0	0	1	0	0
ZNF273	10793	broad.mit.edu	37	7	64388279	64388279	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:64388279A>G	ENST00000476120.1	+	4	644	c.573A>G	c.(571-573)tcA>tcG	p.S191S	ZNF273_ENST00000319636.5_Silent_p.S126S|ZNF273_ENST00000527278.1_3'UTR	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				ATAAATTCTCAAATTCAAATA	0.303000													32	35					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95027254	95027254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:95027254G>A	ENST00000375643.3	-	16	1923	c.1657C>T	c.(1657-1659)Cct>Tct	p.P553S	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000443024.2_Missense_Mutation_p.P553S|IARS_ENST00000447699.2_Missense_Mutation_p.P443S	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	553					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATCTGCAGGAAAAGCATCC	0.433000													16	2					0	0	1	0	0
ESR1	2099	broad.mit.edu	37	6	152382190	152382190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:152382190C>T	ENST00000440973.1	+	8	1670	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	ESR1_ENST00000206249.3_Missense_Mutation_p.R434W|ESR1_ENST00000338799.5_Missense_Mutation_p.R434W|ESR1_ENST00000456483.2_Missense_Mutation_p.R322W|ESR1_ENST00000406599.1_Missense_Mutation_p.R173W|ESR1_ENST00000544394.1_Missense_Mutation_p.R261W|ESR1_ENST00000443427.1_Missense_Mutation_p.R434W	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	434	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	TACATCATCTCGGTTCCGCAT	0.388000													13	10					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159778041	159778041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159778041G>A	ENST00000321935.6	+	4	233	c.147G>A	c.(145-147)tgG>tgA	p.W49*	FCRL6_ENST00000392235.3_Nonsense_Mutation_p.W42*|FCRL6_ENST00000368106.3_Nonsense_Mutation_p.W42*|FCRL6_ENST00000339348.5_Nonsense_Mutation_p.W42*			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	42	Ig-like C2-type 1.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GTCAGGGATGGAAGAATACAC	0.517000													38	31					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31617891	31617891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:31617891C>T	ENST00000409210.1	+	6	921	c.737C>T	c.(736-738)cCt>cTt	p.P246L	CCDC129_ENST00000319386.3_Intron|CCDC129_ENST00000451887.2_Missense_Mutation_p.P364L|CCDC129_ENST00000407970.3_Missense_Mutation_p.P338L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	338										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGCAGTGGCCTTGCTCATCT	0.483000													11	78					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155208037	155208037	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155208037G>A	ENST00000428024.2	-	5	890	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	GBA_ENST00000536770.1_Missense_Mutation_p.P104S|GBA_ENST00000368373.3_Missense_Mutation_p.P217S|GBA_ENST00000493842.1_5'UTR|GBA_ENST00000427500.2_Missense_Mutation_p.P168S|GBA_ENST00000327247.5_Missense_Mutation_p.P217S	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	217					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	GATGTCCAGGGGCTGGCAAGG	0.582000									Gaucher disease type I				7	22					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89949562	89949562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:89949562G>A	ENST00000405460.2	+	20	4267	c.4171G>A	c.(4171-4173)Gaa>Aaa	p.E1391K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1391					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.E1391K(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACAAACAAACGAATCCCATGT	0.393000													9	5					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42793828	42793828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:42793828C>T	ENST00000379274.2	+	28	3361	c.2932C>T	c.(2932-2934)Cct>Tct	p.P978S	DGKH_ENST00000538674.1_Missense_Mutation_p.P869S|DGKH_ENST00000536612.1_Missense_Mutation_p.P978S|DGKH_ENST00000337343.4_Missense_Mutation_p.P1114S|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.P1114S|DGKH_ENST00000261491.4_Missense_Mutation_p.P1114S			Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	1114					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ACAGGAACCTCCTATGGATTG	0.363000													4	11					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152404231	152404231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:152404231G>A	ENST00000397345.3	-	132	20381	c.20179C>T	c.(20179-20181)Cac>Tac	p.H6727Y	NEB_ENST00000172853.10_Missense_Mutation_p.H5026Y|NEB_ENST00000604864.1_Missense_Mutation_p.H6727Y|NEB_ENST00000603639.1_Missense_Mutation_p.H6727Y|NEB_ENST00000409198.1_Missense_Mutation_p.H5026Y|NEB_ENST00000427231.2_Missense_Mutation_p.H6727Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5026					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAGTTTGTGGTACAATTCC	0.438000													6	17					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73590890	73590890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:73590890C>T	ENST00000339362.5	+	28	4550	c.4103C>T	c.(4102-4104)cCg>cTg	p.P1368L	NEO1_ENST00000560262.1_Missense_Mutation_p.P1315L|NEO1_ENST00000261908.6_Missense_Mutation_p.P1368L|NEO1_ENST00000558964.1_Missense_Mutation_p.P1357L			Q92859	NEO1_HUMAN	neogenin 1	1368					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CCAGCAATCCCGCCTCCAGGA	0.587000													46	43					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351694	57351694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57351694C>T	ENST00000361249.3	+	7	1046	c.950C>T	c.(949-951)tCa>tTa	p.S317L		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	317	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						ATGCTGCAGTCATTAATGGAG	0.413000													19	14					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21802333	21802333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:21802333C>T	ENST00000382254.1	-	10	2285	c.1199G>A	c.(1198-1200)gGg>gAg	p.G400E	CDH12_ENST00000504376.2_Missense_Mutation_p.G400E|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G360E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	400	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AATGATGGTCCCTACCGGAGT	0.483000										HNSCC(59;0.17)			5	62					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985153	140985153	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140985153C>T	ENST00000298296.1	+	7	1609	c.1609C>T	c.(1609-1611)Ctg>Ttg	p.L537L	MAGEC3_ENST00000536088.1_Silent_p.L239L|MAGEC3_ENST00000443323.2_Silent_p.L159L|MAGEC3_ENST00000409007.1_Silent_p.L239L|MAGEC3_ENST00000544766.1_Silent_p.L239L	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	537	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGAAGCCTGATTGATGA	0.473000													68	59					0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053508	135053508	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135053508T>G	ENST00000325980.9	+	3	986	c.475T>G	c.(475-477)Ttc>Gtc	p.F159V		NM_014468.2	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	159					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCACAGCCCCTTCTCGGGGTC	0.577000													33	22					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21878090	21878090	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21878090C>T	ENST00000399982.2	-	10	2348	c.2284G>A	c.(2284-2286)Gag>Aag	p.E762K	CHD8_ENST00000557364.1_Missense_Mutation_p.E762K|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.E483K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	762	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TCTTTTAGCTCCCATGTGCTA	0.423000													37	43					0	0	1	0	0
NT5E	4907	broad.mit.edu	37	6	86181159	86181159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:86181159G>A	ENST00000369646.3	+	3	816	c.767G>A	c.(766-768)aGg>aAg	p.R256K	NT5E_ENST00000369651.3_Intron|NT5E_ENST00000257770.3_Intron			P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	0					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TGTTTCAAAAGGATTGCATGG	0.388000													10	19					0	0	1	0	0
NADSYN1	55191	broad.mit.edu	37	11	71212393	71212393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71212393G>A	ENST00000319023.2	+	21	2304	c.2116G>A	c.(2116-2118)Gac>Aac	p.D706N	NADSYN1_ENST00000539574.1_Missense_Mutation_p.D446N|NADSYN1_ENST00000530055.1_Missense_Mutation_p.D335N	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	706	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGACGGCGTGGACTGAGGCCG	0.632000													10	4					0	0	1	0	0
CHODL	140578	broad.mit.edu	37	21	19629035	19629035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:19629035G>A	ENST00000299295.2	+	2	680	c.289G>A	c.(289-291)Ggt>Agt	p.G97S	CHODL_ENST00000400131.1_Missense_Mutation_p.G56S|CHODL_ENST00000543733.1_Missense_Mutation_p.G78S|CHODL_ENST00000400128.1_Missense_Mutation_p.G56S|CHODL_ENST00000400135.1_Missense_Mutation_p.G56S|CHODL_ENST00000400127.1_Missense_Mutation_p.G56S|CHODL_ENST00000338326.3_Missense_Mutation_p.G56S	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	97	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding	p.G97C(1)		kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		GATTTCTGATGGTGATTTCTG	0.498000													27	80					0	0	1	0	0
HERC2P3	283755	broad.mit.edu	37	15	20588710	20588710	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:20588710C>T	ENST00000428453.1	-	0	4041																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACATTCTTTCCTGAAAAATAC	0.299000													5	56					0	0	1	0	0
SYNPR	132204	broad.mit.edu	37	3	63542241	63542241	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:63542241G>A	ENST00000478300.1	+	4	643	c.232G>A	c.(232-234)Gtg>Atg	p.V78M	SYNPR_ENST00000465156.1_Missense_Mutation_p.V58M|SYNPR_ENST00000295894.5_Missense_Mutation_p.V58M|SYNPR_ENST00000479198.1_Missense_Mutation_p.V58M|SYNPR_ENST00000460711.1_Missense_Mutation_p.V69M|SYNPR_ENST00000478744.1_3'UTR	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	58	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		GACGTTTGAGGTGCCCACCTG	0.463000													9	12					0	0	1	0	0
METTL7B	196410	broad.mit.edu	37	12	56075839	56075839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56075839C>T	ENST00000394252.3	+	1	510	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	101							methyltransferase activity			kidney(1)|large_intestine(1)|lung(4)	6						AGACCCAAATCCCCACTTTGA	0.582000													14	47					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170136018	170136018	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170136018C>A	ENST00000263816.3	-	12	1714	c.1429G>T	c.(1429-1431)Gtt>Ttt	p.V477F	LRP2_ENST00000443831.1_Missense_Mutation_p.V477F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	477					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTATTATTAACCCAGTCCACA	0.378000													14	42					1.5842e-08	1.59294e-08	1	1	0
WDR78	79819	broad.mit.edu	37	1	67306349	67306349	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:67306349C>T	ENST00000371026.3	-	9	1352	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	WDR78_ENST00000371023.3_Missense_Mutation_p.E433K|WDR78_ENST00000431318.1_Missense_Mutation_p.E179K	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	433	Glu-rich.									NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TCTTCAGGTTCAGGTTCTAAA	0.398000													32	2					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14752422	14752422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14752422C>T	ENST00000253673.5	-	10	1157	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	EMR3_ENST00000599900.1_Missense_Mutation_p.D138N|EMR3_ENST00000344373.4_Missense_Mutation_p.D301N|EMR3_ENST00000443157.2_Missense_Mutation_p.D227N	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	353					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						AGCACGGGATCCTCCTCCTGG	0.562000													7	29					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158585192	158585192	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158585192C>T	ENST00000368148.3	-	48	6782	c.6600_splice	c.e48-1	p.R2201_splice	SPTA1_ENST00000368147.3_Splice_Site_p.R2198_splice	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2201					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCTGTTTTCTCTGGAAAAA	0.453000													37	140					0	0	1	0	0
ZNF582	147948	broad.mit.edu	37	19	56895962	56895962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56895962C>T	ENST00000301310.4	-	5	982	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	ZNF582_ENST00000586929.1_Missense_Mutation_p.R275Q	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TGTGTGAGTTCGCTGATGTTC	0.403000													7	36					0	0	1	0	0
ZNF256	10172	broad.mit.edu	37	19	58453234	58453234	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58453234C>T	ENST00000282308.3	-	3	1138	c.942G>A	c.(940-942)caG>caA	p.Q314Q	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	314					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TATGAACTCTCTGATGTATAA	0.403000													11	48					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149506157	149506157	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149506157C>T	ENST00000378016.2	+	0	9149							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCCTTGGTCTCCGTGCTCC	0.687000													19	4					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764701	92764701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92764701G>A	ENST00000318238.4	-	5	1800	c.584C>T	c.(583-585)cCa>cTa	p.P195L	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P195L|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P195L	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	195										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCATGTATTGGATCAATGAG	0.403000													70	58					0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77328972	77328972	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:77328972G>T	ENST00000282849.5	-	19	3272	c.2854C>A	c.(2854-2856)Cag>Aag	p.Q952K		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	952	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTTCGGCTCTGCTGGCCTCCA	0.498000													8	12					0.0581538	0.0581857	1	1	0
C1orf168	199920	broad.mit.edu	37	1	57257924	57257924	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57257924T>C	ENST00000343433.6	-	2	642	c.562A>G	c.(562-564)Aca>Gca	p.T188A	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	188										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCTCCTTTTGTTTCCAGCTTT	0.473000													27	42					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193833	60193833	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:60193833G>A	ENST00000267484.5	-	3	1904	c.1569C>T	c.(1567-1569)ctC>ctT	p.L523L		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	523					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGGGGTAGTCGAGGAAGGAAC	0.706000													4	17					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11666907	11666907	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11666907C>T	ENST00000262442.3	+	36	7214	c.7146C>T	c.(7144-7146)ttC>ttT	p.F2382F	DNAH9_ENST00000454412.2_Silent_p.F2382F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2382					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTGGGCTTTCGGCGGAGCAA	0.468000													18	18					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814408	106814408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:106814408G>A	ENST00000407775.2	+	8	2348	c.2098G>A	c.(2098-2100)Gaa>Aaa	p.E700K	ZFPM2_ENST00000517361.1_Missense_Mutation_p.E568K|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E431K|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E568K|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	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													15	12					0	0	1	0	0
SLC4A1	6521	broad.mit.edu	37	17	42328546	42328546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42328546C>T	ENST00000262418.6	-	19	2791	c.2636G>A	c.(2635-2637)aGg>aAg	p.R879K		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	879	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CTCCACGTTCCTGAAGATGAG	0.662000													4	19					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478185	14478185	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14478185C>T	ENST00000581457.1	-	0	1723					NR_024076.1																						TAGACCCATCCTTGCTCTGTG	0.453000													13	21					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42147122	42147122	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:42147122C>T	ENST00000394237.1	+	6	1563	c.587C>T	c.(586-588)gCc>gTc	p.A196V	GUCA1A_ENST00000053469.4_Missense_Mutation_p.A196V|GUCA1A_ENST00000541991.1_Missense_Mutation_p.A196V|GUCA1A_ENST00000372958.1_Missense_Mutation_p.A196V			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	196					signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTGACGAGGCCGCTGAGGCA	0.632000													5	19					0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28195179	28195179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:28195179C>T	ENST00000302326.4	-	1	2307	c.1353G>A	c.(1351-1353)atG>atA	p.M451I		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	451							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGGCCACGTTCATGTAGGGGG	0.637000			T	ETV6	"""AML, meningioma"""								16	13					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247779	177247779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177247779G>A	ENST00000361539.4	+	7	1405	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		365						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTGGGCCATGGACACCAGCCT	0.562000													49	214					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6833594	6833594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6833594G>A	ENST00000304076.2	+	17	1760	c.1666G>A	c.(1666-1668)Gag>Aag	p.E556K	VAV1_ENST00000599806.1_Missense_Mutation_p.E501K|VAV1_ENST00000602142.1_Missense_Mutation_p.E556K|VAV1_ENST00000539284.1_Missense_Mutation_p.E459K|VAV1_ENST00000596764.1_Missense_Mutation_p.E524K	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	556					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TGCACACAAGGAGTGTCTGGG	0.572000													47	50					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154645528	154645528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:154645528G>A	ENST00000404039.1	+	17	2100	c.1513G>A	c.(1513-1515)Gat>Aat	p.D505N	DPP6_ENST00000377770.3_Missense_Mutation_p.D569N|DPP6_ENST00000332007.3_Missense_Mutation_p.D507N|DPP6_ENST00000427557.1_Missense_Mutation_p.D462N|RP11-476H24.1_ENST00000448767.1_RNA	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	569					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CAACACAACAGATAAGAAAAG	0.428000													23	43					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73497860	73497860	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73497860C>T	ENST00000321617.3	-	18	3881	c.3295_splice	c.e18+1	p.G1099_splice	CASKIN2_ENST00000433559.2_Splice_Site_p.G1017_splice	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	1099	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCCCTCTTACCTGCTCCGGGC	0.637000													31	137					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156148	155156148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155156148G>A	ENST00000357232.3	-	25	8290	c.8291C>T	c.(8290-8292)tCa>tTa	p.S2764L		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2764					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CGTCTGAGTTGAAAGAGCTGC	0.423000													15	51					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102837635	102837635	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:102837635C>T	ENST00000312132.4	-	0	3536																											ATCCCTTACCCGTCAAGAGCA	0.363000													4	25					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43519497	43519497	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43519497G>A	ENST00000401740.1	-	4	838	c.735C>T	c.(733-735)ttC>ttT	p.F245F	PSG11_ENST00000320078.7_Silent_p.F245F|PSG11_ENST00000403486.1_Silent_p.F123F|PSG11_ENST00000306322.7_Silent_p.F123F			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	245	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TGACTGAAGGGAAAATTCTGG	0.473000													19	103					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105161027	105161027	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:105161027C>T	ENST00000436393.2	+	23	3580	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I	RIMS2_ENST00000406091.3_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	541					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGTAGCTATCGTTGGTCTGT	0.483000										HNSCC(12;0.0054)			19	57					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085292	80085292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:80085292C>T	ENST00000466387.1	+	8	1176	c.452C>T	c.(451-453)tCc>tTc	p.S151F	CTNNA2_ENST00000540488.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000361291.4_Missense_Mutation_p.S185F|CTNNA2_ENST00000541047.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000496558.1_Missense_Mutation_p.S151F|CTNNA2_ENST00000402739.4_Missense_Mutation_p.S151F			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	151					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGACTTTTATCCCATCTGAAA	0.483000													17	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179434655	179434655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179434655G>A	ENST00000589042.1	-	326	76428	c.76204C>T	c.(76204-76206)Cct>Tct	p.P25402S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P22834S|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P16337S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16462S|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16529S|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P23761S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23761	Fibronectin type-III 84.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATAAATAGGATCACAAGCC	0.423000													13	32					0	0	1	0	0
IGHJ5	28476	broad.mit.edu	37	14	106330029	106330029	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106330029G>A	ENST00000488476.1	-	0	43																											CTCACCTGAGGAGACGGTGAC	0.602000													11	15					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28923499	28923499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28923499G>A	ENST00000257192.4	+	12	1986	c.1774G>A	c.(1774-1776)Gga>Aga	p.G592R	RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	592					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGTTCAGATGGAGCAATTCA	0.493000													41	25					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129311	248129311	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248129311C>T	ENST00000366480.3	+	1	777	c.678C>T	c.(676-678)ttC>ttT	p.F226F	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TACTACCATTCCTAGCCATTC	0.468000													13	24					0	0	1	0	0
LPIN1	23175	broad.mit.edu	37	2	11905737	11905737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:11905737C>T	ENST00000256720.2	+	2	163	c.70C>T	c.(70-72)Ccc>Tcc	p.P24S	LPIN1_ENST00000449576.2_Missense_Mutation_p.P73S|LPIN1_ENST00000396099.1_Missense_Mutation_p.P30S|LPIN1_ENST00000425416.2_Missense_Mutation_p.P30S|LPIN1_ENST00000396098.1_Missense_Mutation_p.P30S	NM_145693.2	NP_663731.1	Q14693	LPIN1_HUMAN	lipin 1	24	N-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGGGCTGAATCCCGCCACACT	0.532000													36	132					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233016	55233016	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:55233016C>T	ENST00000275493.2	+	15	1943	c.1766C>T	c.(1765-1767)cCc>cTc	p.P589L	EGFR_ENST00000454757.2_Missense_Mutation_p.P536L|EGFR_ENST00000344576.2_Missense_Mutation_p.P589L|EGFR_ENST00000442591.1_Missense_Mutation_p.P589L|EGFR_ENST00000342916.3_Missense_Mutation_p.P589L|EGFR_ENST00000455089.1_Missense_Mutation_p.P544L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	589					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P589L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATTGACGGCCCCCACTGCGTC	0.532000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			38	58					0	0	1	0	0
LSM7	51690	broad.mit.edu	37	19	2328389	2328389	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2328389C>A	ENST00000252622.9	-	2	143	c.94G>T	c.(94-96)Gaa>Taa	p.E32*		NM_016199.2	NP_057283.1	Q9UK45	LSM7_HUMAN	LSM7 homolog, U6 small nuclear RNA associated (S. cerevisiae)	32					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			kidney(1)|urinary_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCACCTTCGCGGCCTCCC	0.502000													9	22					3.86212e-05	3.87204e-05	1	1	0
DSC1	1823	broad.mit.edu	37	18	28736029	28736029	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28736029G>A	ENST00000257197.3	-	4	709	c.448C>T	c.(448-450)Cca>Tca	p.P150S	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.P150S	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	150	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTGGAAATGGACCCAACGAG	0.408000													9	25					0	0	1	0	0
MYO1A	4640	broad.mit.edu	37	12	57437088	57437088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57437088G>A	ENST00000442789.2	-	12	1234	c.947C>T	c.(946-948)gCt>gTt	p.A316V	MYO1A_ENST00000300119.3_Missense_Mutation_p.A316V|MYO1A_ENST00000544473.1_Missense_Mutation_p.A154V	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	316	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CGAGCACAAAGCTCTCTCTAC	0.502000													16	53					0	0	1	0	0
ANGPTL3	27329	broad.mit.edu	37	1	63069664	63069664	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:63069664A>T	ENST00000371129.3	+	6	1036	c.956A>T	c.(955-957)aAg>aTg	p.K319M	DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron|DOCK7_ENST00000404627.2_Intron|ANGPTL3_ENST00000493994.1_3'UTR	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	319	Fibrinogen C-terminal.				acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						GGCCTAGAGAAGATATACTCC	0.308000													24	4					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538842	56538842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56538842G>A	ENST00000390649.3	+	7	1243	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	415	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTGGGCACAGAGAAGCTCAA	0.562000													6	18					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34182945	34182945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:34182945C>T	ENST00000297161.2	+	15	2223	c.1849C>T	c.(1849-1851)Cac>Tac	p.H617Y	BMPER_ENST00000426693.1_Missense_Mutation_p.H617Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	617					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CATCAAAGTCCACTGGGAGCC	0.478000													38	53					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60928080	60928080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:60928080C>T	ENST00000321731.3	-	13	1268	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	370										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ACCTTTATCCCCTTTTTCCGA	0.284000													8	17					0	0	1	0	0
ZDHHC15	158866	broad.mit.edu	37	X	74644606	74644606	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:74644606C>T	ENST00000541184.1	-	7	1067	c.590G>A	c.(589-591)aGt>aAt	p.S197N	ZDHHC15_ENST00000373367.3_Missense_Mutation_p.S206N|ZDHHC15_ENST00000373361.3_Missense_Mutation_p.V166M	NM_001146256.1	NP_001139728.1	Q96MV8	ZDH15_HUMAN	zinc finger, DHHC-type containing 15	206						integral to membrane	zinc ion binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(1)|lung(11)|ovary(2)|skin(2)	26						AGAGCGAACACTGGGTAATTC	0.373000													5	0					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26709787	26709787	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26709787C>T	ENST00000529632.2	+	9	2130	c.1934C>T	c.(1933-1935)cCc>cTc	p.P645L	SEZ6L_ENST00000248933.6_Missense_Mutation_p.P645L|SEZ6L_ENST00000402979.1_Missense_Mutation_p.P418L|SEZ6L_ENST00000343706.4_Missense_Mutation_p.P645L|SEZ6L_ENST00000403121.1_Missense_Mutation_p.P418L|SEZ6L_ENST00000404234.3_Missense_Mutation_p.P645L|SEZ6L_ENST00000360929.3_Missense_Mutation_p.P645L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	645	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCAAACTGGCCCGAGCCCTAC	0.483000													21	71					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554810	150554810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150554810C>T	ENST00000493429.1	+	4	1836	c.1252C>T	c.(1252-1254)Ctc>Ttc	p.L418F	AOC1_ENST00000416793.2_Missense_Mutation_p.L418F|AOC1_ENST00000360937.4_Missense_Mutation_p.L418F|AOC1_ENST00000467291.1_Missense_Mutation_p.L418F					amine oxidase, copper containing 1																		AGCCCTCTGCCTCTTTGAAAT	0.582000													18	42					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46932242	46932242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:46932242C>T	ENST00000262738.3	-	1	825	c.826G>A	c.(826-828)Gag>Aag	p.E276K	CELSR1_ENST00000395964.1_Missense_Mutation_p.E276K	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	276	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGCTCCTCCTCGCCCTCGATG	0.632000													26	42					0	0	1	0	0
LPHN1	22859	broad.mit.edu	37	19	14273562	14273562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14273562C>T	ENST00000340736.6	-	6	1363	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E351K	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	356	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGACAGGCTCCTCGCGGTTG	0.577000													33	34					0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762736	131762736	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:131762736C>T	ENST00000370836.2	-	4	1748	c.1333G>A	c.(1333-1335)Gag>Aag	p.E445K	HS6ST2_ENST00000406696.3_Missense_Mutation_p.E171K|HS6ST2_ENST00000370833.2_Missense_Mutation_p.E339K|HS6ST2_ENST00000521489.1_Missense_Mutation_p.E485K|HS6ST2_ENST00000370837.1_Missense_Mutation_p.E299K	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	445						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AAGGTTTTCTCAAACAGATAT	0.423000													29	38					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33510724	33510724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:33510724C>T	ENST00000265371.4	-	9	1730	c.1205G>A	c.(1204-1206)cGa>cAa	p.R402Q	NRP1_ENST00000374867.2_Missense_Mutation_p.R402Q|NRP1_ENST00000395995.1_Missense_Mutation_p.R402Q|NRP1_ENST00000374816.3_Missense_Mutation_p.R402Q|NRP1_ENST00000374821.5_Missense_Mutation_p.R402Q|NRP1_ENST00000374822.4_Missense_Mutation_p.R402Q|NRP1_ENST00000374823.5_Missense_Mutation_p.R402Q			O14786	NRP1_HUMAN	neuropilin 1	402	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TCGGACAAATCGAGTTATCAG	0.433000													63	53					0	0	1	0	0
OR52A1	23538	broad.mit.edu	37	11	5173160	5173160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5173160C>T	ENST00000380367.1	-	2	857	c.440G>A	c.(439-441)gGa>gAa	p.G147E	OR52A1_ENST00000328942.1_Missense_Mutation_p.G147E			Q9UKL2	O52A1_HUMAN	olfactory receptor, family 52, subfamily A, member 1	147					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACCATAGTTCCTATCTGAAT	0.488000													19	44					0	0	1	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816274	156816274	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:156816274C>T	ENST00000347377.6	+	29	3716	c.3285C>T	c.(3283-3285)atC>atT	p.I1095I	CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000377576.3_Silent_p.I1095I|CYFIP2_ENST00000435847.2_Silent_p.I794I|CYFIP2_ENST00000318218.6_Silent_p.I1120I|CYFIP2_ENST00000522463.1_Silent_p.I899I|CYFIP2_ENST00000541131.1_Silent_p.I1020I|CYFIP2_ENST00000521420.1_Silent_p.I1069I	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	1120					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCGAGGTCATCCTGACCCGCA	0.617000													76	253					0	0	1	0	0
OR56A1	120796	broad.mit.edu	37	11	6048009	6048009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6048009C>T	ENST00000316650.5	-	1	962	c.926G>A	c.(925-927)gGa>gAa	p.G309E		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCTGAATTCCCTGTTTTAT	0.448000													15	38					0	0	1	0	0
NCF4	4689	broad.mit.edu	37	22	37268389	37268389	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:37268389A>G	ENST00000397147.4	+	7	733	c.549A>G	c.(547-549)ggA>ggG	p.G183G	NCF4_ENST00000248899.6_Silent_p.G183G	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	183	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ACTTCACTGGAAACAGCAAAC	0.468000													29	67					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155287521	155287521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155287521G>A	ENST00000357232.3	-	5	534	c.535C>T	c.(535-537)Cca>Tca	p.P179S	DCHS2_ENST00000339452.1_Missense_Mutation_p.P773S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	179	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAGGTTGATGGGTTAAACACA	0.498000													22	14					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829928	106829928	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106829928G>A	ENST00000390616.2	-	0	98																											TGAGCCCTGGGATCAGAGGCA	0.562000													5	33					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2953033	2953033	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:2953033G>A	ENST00000396946.4	-	22	3310	c.2907C>T	c.(2905-2907)ttC>ttT	p.F969F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	969					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GCTCGCAGTAGAAGGCGCGTA	0.662000			Mis		DLBCL								14	93					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1093939	1093939	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1093939G>A	ENST00000308624.5	+	3	396		c.e3+1		SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2						central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAGTATAAAGGTATGGAAATG	0.388000													32	223					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54542603	54542603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:54542603G>A	ENST00000545554.1	+	7	3409	c.3409G>A	c.(3409-3411)Gaa>Aaa	p.E1137K	UNC13C_ENST00000260323.11_Missense_Mutation_p.E1137K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1135K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1137					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAATGCCACGAAAAGTGTCA	0.507000													14	51					0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99723978	99723978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:99723978C>T	ENST00000345514.2	-	2	523	c.257G>A	c.(256-258)gGt>gAt	p.G86D	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000357195.3_Missense_Mutation_p.G86D	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	485						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		ATAGCAGGCACCCAAGCTGCC	0.587000			T	TLX3	T-ALL								8	61					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126143258	126143258	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:126143258C>T	ENST00000263578.5	+	4	519	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	FOXRED1_ENST00000532125.1_Missense_Mutation_p.P135S|FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	149						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGATGCTCCTCCCCTGGACCT	0.557000													20	40					0	0	1	0	0
PEX26	55670	broad.mit.edu	37	22	18566338	18566338	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18566338G>A	ENST00000329627.6	+	4	713	c.507G>A	c.(505-507)ctG>ctA	p.L169L	PEX26_ENST00000399744.3_Silent_p.L169L|PEX26_ENST00000428061.2_Silent_p.L169L	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	169					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGGTGCTGCTGCCTCTGGGCT	0.582000													30	105					0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90213292	90213292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90213292C>T	ENST00000300055.5	-	5	682	c.517G>A	c.(517-519)Gct>Act	p.A173T	PLIN1_ENST00000430628.2_Missense_Mutation_p.A173T	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	173					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CCTCCAGAAGCCAGTCGGCCA	0.632000													10	22					0	0	1	0	0
TMIGD2	126259	broad.mit.edu	37	19	4292752	4292752	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:4292752G>A	ENST00000301272.2	-	5	738	c.693C>T	c.(691-693)ccC>ccT	p.P231P	TMIGD2_ENST00000595645.1_Silent_p.P227P|TMIGD2_ENST00000600349.1_Silent_p.P59P|TMIGD2_ENST00000600114.1_Silent_p.P111P	NM_001169126.1|NM_144615.2	NP_001162597.1|NP_653216.2	Q96BF3	TMIG2_HUMAN	transmembrane and immunoglobulin domain containing 2	231	Pro-rich.					integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCTGGCGGGGGGCCGGTT	0.687000													31	23					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94048616	94048616	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94048616G>A	ENST00000553484.1	+	20	2883	c.2729G>A	c.(2728-2730)gGg>gAg	p.G910E	UNC79_ENST00000393151.2_Missense_Mutation_p.G910E|UNC79_ENST00000555664.1_Missense_Mutation_p.G910E|UNC79_ENST00000256339.4_Missense_Mutation_p.G733E			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	910						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGCCCTGAAGGGGAGGAGGAG	0.567000													14	39					0	0	1	0	0
FUT8	2530	broad.mit.edu	37	14	66200043	66200043	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:66200043C>T	ENST00000360689.5	+	10	3081	c.1354C>T	c.(1354-1356)Ctg>Ttg	p.L452L	FUT8_ENST00000557164.1_Silent_p.L289L|FUT8_ENST00000417683.1_Silent_p.L46L|FUT8_ENST00000358307.2_Silent_p.L323L|FUT8_ENST00000394586.2_Silent_p.L452L|FUT8_ENST00000394585.1_Silent_p.L452L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	452					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGGAGTGATCCTGGATATACA	0.383000													20	92					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141055433	141055433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141055433C>T	ENST00000389484.3	-	84	13882	c.12911G>A	c.(12910-12912)gGa>gAa	p.G4304E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4304	EGF-like 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCTGGTTTCCAGCAGTCAC	0.498000										TSP Lung(27;0.18)			45	117					0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557678	36557678	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36557678C>T	ENST00000373178.4	+	4	714	c.684C>T	c.(682-684)tcC>tcT	p.S228S		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	228						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				ATGCCCAGTCCGTCTTGGATG	0.602000													17	2					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582416	55582416	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55582416G>A	ENST00000361849.3	-	34	5470	c.5076C>T	c.(5074-5076)atC>atT	p.I1692I	PCDH15_ENST00000320301.6_Silent_p.I1690I|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Silent_p.I1621I|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Silent_p.I1687I|PCDH15_ENST00000395432.2_Silent_p.I1650I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Silent_p.I1667I|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1690					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGGAGAACTGATGACATTAG	0.423000										HNSCC(58;0.16)			7	23					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436726	248436726	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248436726G>A	ENST00000318021.2	-	1	412	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGAGAGTGGGATATCGGAGT	0.592000													12	171					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53686161	53686161	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53686161C>T	ENST00000257934.4	+	28	5987	c.5896C>T	c.(5896-5898)Cga>Tga	p.R1966*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.R1966*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1966					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGCAATTTCGAGCCAATTT	0.527000													24	89					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967664	4967664	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4967664G>A	ENST00000380373.2	-	1	692	c.667C>T	c.(667-669)Ctc>Ttc	p.L223F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTCTTGAGGATCAGGGTG	0.433000													16	57					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084466	248084466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248084466G>A	ENST00000319968.4	+	1	147	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	49			W -> R (in dbSNP:rs11204564).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGATTCACTGGGACCACCGGC	0.527000													49	56					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54343061	54343061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:54343061G>A	ENST00000306888.2	-	8	1714	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L	LNX1_ENST00000263925.7_Missense_Mutation_p.S584L|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	584						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGTACTATCGAGGATGATGT	0.522000													89	9					0	0	1	0	0
MUC20	200958	broad.mit.edu	37	3	195451910	195451910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:195451910G>A	ENST00000320736.6	+	2	562	c.436G>A	c.(436-438)Gat>Aat	p.D146N	MUC20_ENST00000447234.2_Missense_Mutation_p.D146N|MUC20_ENST00000445522.2_Missense_Mutation_p.D111N|MUC20_ENST00000436408.1_Missense_Mutation_p.D146N	NM_001098516.1|NM_152673.2	NP_001091986.1|NP_689886.2	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	327			Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CCTTTGCACCGATGACAGCTC	0.557000													78	130					0	0	1	0	0
WNT5A	7474	broad.mit.edu	37	3	55504257	55504257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:55504257C>T	ENST00000474267.1	-	6	1527	c.1006G>A	c.(1006-1008)Gag>Aag	p.E336K	WNT5A_ENST00000497027.1_Missense_Mutation_p.E321K|WNT5A_ENST00000264634.4_Missense_Mutation_p.E336K			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	336					activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing	extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CACATGAGCTCGCAGCCATCC	0.637000													27	54					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612077	20612077	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20612077C>T	ENST00000333629.1	+	1	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CCCTCTATTTCTTTCTGGGCA	0.453000													57	193					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902628	236902628	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:236902628C>T	ENST00000366578.4	+	10	1069	c.903C>T	c.(901-903)atC>atT	p.I301I	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Silent_p.I301I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	301					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTCGCACGATCCCCTGGCTGG	0.537000													51	79					0	0	1	0	0
OR10A5	144124	broad.mit.edu	37	11	6867366	6867366	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6867366C>T	ENST00000299454.4	+	1	484	c.453C>T	c.(451-453)ttC>ttT	p.F151F	OR10A5_ENST00000379831.2_Silent_p.F155F			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTCCTGGTTCCCAGGCTTTC	0.542000													62	73					0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2969694	2969694	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:2969694C>T	ENST00000396946.4	-	12	1988	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	529					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GTGCCTTCTTCCTCGTGCCCC	0.622000			Mis		DLBCL								28	81					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90170247	90170247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90170247C>T	ENST00000268138.7	+	22	5768	c.5663C>T	c.(5662-5664)tCc>tTc	p.S1888F	TICRR_ENST00000560985.1_Missense_Mutation_p.S1887F|KIF7_ENST00000558928.1_Intron					TOPBP1-interacting checkpoint and replication regulator																		CGCGCTTTCTCCAGGAGGCGC	0.493000													58	190					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177247848	177247848	+	Missense_Mutation	SNP	C	C	T	rs138472115		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177247848C>T	ENST00000361539.4	+	7	1474	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		388						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAAGACCCATCGGATCCTACG	0.612000													68	61					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511960	44511960	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:44511960C>T	ENST00000372523.1	+	2	824	c.729C>T	c.(727-729)caC>caT	p.H243H	ZSWIM1_ENST00000372520.1_Silent_p.H243H	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	243							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GGCTGGCTCACCGCTGGAGAA	0.572000													16	39					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119296250	119296250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:119296250C>T	ENST00000338891.7	-	13	3150	c.2707G>A	c.(2707-2709)Gaa>Aaa	p.E903K	FAM184A_ENST00000368475.4_Missense_Mutation_p.E783K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E783K|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.E903K	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	903										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AATTCCAGTTCTTTGGTTAGG	0.383000													11	13					0	0	1	0	0
PLD2	5338	broad.mit.edu	37	17	4713310	4713310	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4713310C>T	ENST00000263088.6	+	9	977	c.846C>T	c.(844-846)atC>atT	p.I282I	PLD2_ENST00000572940.1_Silent_p.I282I	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	282	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCGTGCGGATCGATACCTCCC	0.607000													13	35					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91873617	91873617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:91873617C>T	ENST00000373094.1	+	7	4567	c.3722C>T	c.(3721-3723)tCa>tTa	p.S1241L	PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1231L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1223L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1233L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1204L|PCDH11X_ENST00000504220.1_3'UTR|PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1204L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1241					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCACAGGCCTCAGCCCTCTGC	0.587000													26	40					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067148	9067148	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9067148C>T	ENST00000397910.4	-	3	20501	c.20298G>A	c.(20296-20298)tcG>tcA	p.S6766S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6768	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6766S(2)|p.S2399S(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTCGCCATCGAGTGTGTTC	0.483000													58	143					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74046460	74046460	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:74046460A>G	ENST00000296805.3	-	7	920	c.463T>C	c.(463-465)Tgc>Cgc	p.C155R	GFM2_ENST00000509430.1_Missense_Mutation_p.C155R|GFM2_ENST00000427854.2_Missense_Mutation_p.C155R|GFM2_ENST00000345239.2_Missense_Mutation_p.C155R	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	155					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		ACTCTTAGGCACCGCTCAACC	0.403000													10	19					0	0	1	0	0
FDCSP	260436	broad.mit.edu	37	4	71099752	71099752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71099752G>A	ENST00000317987.5	+	4	218	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	36						extracellular region											TGACAGCGATGAATTAGCTTC	0.363000													34	154					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45833925	45833925	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45833925C>T	ENST00000397928.1	+	20	3559	c.3114C>T	c.(3112-3114)atC>atT	p.I1038I	TRPM2_ENST00000300481.9_Silent_p.I1018I|TRPM2_ENST00000300482.5_Silent_p.I1038I|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.I1038I	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1038						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCACCAACATCCTGCTGCTCA	0.657000													122	162					0	0	1	0	0
KIF19	124602	broad.mit.edu	37	17	72339245	72339245	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72339245C>T	ENST00000389916.4	+	5	540	c.402C>T	c.(400-402)gcC>gcT	p.A134A		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	134	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCTTCCGTGCCATCGAGGAGA	0.592000													8	37					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555178	10555178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10555178C>T	ENST00000304519.5	+	3	340	c.311C>T	c.(310-312)aCc>aTc	p.T104I	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	104										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		CATTTCAACACCACCCACCTG	0.572000													63	107					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45517738	45517738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:45517738G>A	ENST00000379161.4	-	9	1256	c.1210C>T	c.(1210-1212)Cca>Tca	p.P404S		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	404					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCTTGACTTGGACTCTTAGGA	0.373000													29	48					0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180372715	180372715	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:180372715C>T	ENST00000273654.4	-	13	1636	c.1017G>A	c.(1015-1017)acG>acA	p.T339T	CCDC39_ENST00000442201.2_Silent_p.T255T			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	255					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTTTTTCTCTCGTTTCCTGCT	0.289000													5	9					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134182771	134182771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134182771C>T	ENST00000431683.2	+	15	1490	c.1490C>T	c.(1489-1491)cCt>cTt	p.P497L		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	497					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGCACATTCCTGAACTCAGG	0.517000													8	5					0	0	1	0	0
RHNO1	83695	broad.mit.edu	37	12	2997420	2997420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2997420C>T	ENST00000489288.2	+	3	664	c.512C>T	c.(511-513)cCc>cTc	p.P171L	RHNO1_ENST00000464682.2_3'UTR|RHNO1_ENST00000461997.2_Missense_Mutation_p.P157L	NM_001252499.2|NM_001257097.1|NM_001257098.1	NP_001239428.1|NP_001244026.1|NP_001244027.1			RAD9-HUS1-RAD1 interacting nuclear orphan 1																		GAACTCATTCCCCAAGATCAG	0.502000													64	52					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5758290	5758290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5758290G>A	ENST00000317121.3	+	1	610	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		CTCCAAGAATGAAATTGAACA	0.483000													24	38					0	0	1	0	0
TNNI2	7136	broad.mit.edu	37	11	1862278	1862278	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1862278G>A	ENST00000381906.1	+	7	363	c.294G>A	c.(292-294)caG>caA	p.Q98Q	TNNI2_ENST00000252898.7_Silent_p.Q98Q|TNNI2_ENST00000381905.3_Silent_p.Q98Q|TNNI2_ENST00000381911.1_Silent_p.Q98Q	NM_001145829.1	NP_001139301.1	P48788	TNNI2_HUMAN	troponin I type 2 (skeletal, fast)	98	Involved in binding TNC and actin.				muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction	cytosol|nucleus|troponin complex	actin binding|troponin T binding			lung(8)|prostate(1)|urinary_tract(1)	10		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACATGAACCAGAAGCTATTTG	0.701000													3	23					0	0	1	0	0
IL27RA	9466	broad.mit.edu	37	19	14159999	14159999	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14159999C>T	ENST00000263379.2	+	10	1400	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	425	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TTTGGCGACTCCAAGATGCCC	0.647000											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	34					0	0	1	0	0
OR2AK2	391191	broad.mit.edu	37	1	248128867	248128867	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248128867C>T	ENST00000366480.3	+	1	333	c.234C>T	c.(232-234)ctC>ctT	p.L78L	OR2L13_ENST00000366478.2_Intron	NM_001004491.1	NP_001004491.1	Q8NG84	O2AK2_HUMAN	olfactory receptor, family 2, subfamily AK, member 2	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			ACTTTCTGCTCAGTCAGCTCT	0.478000													94	75					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117923411	117923411	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117923411C>T	ENST00000425217.1	-	15	2272	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	KSR2_ENST00000339824.5_Missense_Mutation_p.E769K|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	769	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCACAATTTCTTGAGCAATC	0.502000													8	55					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151739672	151739672	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151739672C>T	ENST00000321531.5	+	2	233	c.66C>T	c.(64-66)ctC>ctT	p.L22L	OAZ3_ENST00000453029.2_Silent_p.L35L|OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000577465.1_3'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Silent_p.L22L			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	19					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	ACTTGACACTCCAGCCCCGTT	0.512000													69	123					0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77715665	77715665	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:77715665G>A	ENST00000298351.4	+	21	2046	c.1902G>A	c.(1900-1902)acG>acA	p.T634T		NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C	634						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AGCACTTGACGGATCGCTATA	0.542000													35	59					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41005676	41005676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41005676G>A	ENST00000399564.4	-	35	4271	c.3821C>T	c.(3820-3822)tCc>tTc	p.S1274F	MROH2B_ENST00000506092.2_Missense_Mutation_p.S829F	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTTCTCCGAGGAGGAGGTAAG	0.512000													10	8					0	0	1	0	0
NUFIP1	26747	broad.mit.edu	37	13	45515448	45515448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:45515448G>A	ENST00000379161.4	-	10	1427	c.1381C>T	c.(1381-1383)Ccg>Tcg	p.P461S		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	461					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding	p.P461S(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		CGAATGTCCGGAGCTAGAAGC	0.318000													9	19					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159819933	159819933	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:159819933G>A	ENST00000497452.1	-	0	517																											GGAAGACTCTGATCTTCCAAG	0.423000													4	31					0	0	1	0	0
OR13F1	138805	broad.mit.edu	37	9	107267343	107267343	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:107267343C>T	ENST00000334726.2	+	1	889	c.800C>T	c.(799-801)tCa>tTa	p.S267L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGTAGATTCACAGGAAATA	0.478000													18	29					0	0	1	0	0
HNF4A	3172	broad.mit.edu	37	20	43057118	43057118	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43057118G>A	ENST00000316099.3	+	9	1362	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	HNF4A_ENST00000415691.1_Intron|HNF4A_ENST00000457232.1_Intron	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	425					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCGACCCAGGGGACAGGCAGG	0.542000													51	199					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62851143	62851143	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62851143C>T	ENST00000536311.1	+	13	2494	c.2130C>T	c.(2128-2130)ttC>ttT	p.F710F	MYT1_ENST00000328439.1_Silent_p.F683F|MYT1_ENST00000360149.4_Silent_p.F385F			Q01538	MYT1_HUMAN	myelin transcription factor 1	683	Ser-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AAAATGCTTTCCCcagcagca	0.582000													11	54					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106124612	106124612	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:106124612C>T	ENST00000369704.3	+	4	696	c.562C>T	c.(562-564)Cga>Tga	p.R188*	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	188										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		GGAAACAGAGCGATCAAAAGA	0.473000													7	20					0	0	1	0	0
ADPRHL2	54936	broad.mit.edu	37	1	36557677	36557677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36557677C>T	ENST00000373178.4	+	4	713	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	228						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				GATGCCCAGTCCGTCTTGGAT	0.602000													17	2					0	0	1	0	0
RNF165	494470	broad.mit.edu	37	18	44013247	44013247	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44013247C>T	ENST00000269439.7	+	2	207	c.156C>T	c.(154-156)ttC>ttT	p.F52F	RNF165_ENST00000543885.1_Intron	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	52							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTCCCGACTTCCCGCTGGCCC	0.716000													8	0					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467093	56467093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56467093C>T	ENST00000291971.3	+	3	1740	c.1669C>T	c.(1669-1671)Ctt>Ttt	p.L557F	NLRP8_ENST00000590542.1_Missense_Mutation_p.L557F	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	557						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACATGGGACTTTTCTTATT	0.468000													9	58					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265685	3265685	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3265685C>T	ENST00000520002.1	-	15	2365	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	CSMD1_ENST00000539096.1_Missense_Mutation_p.E603K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E604K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E604K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E603K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E603K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E604K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	604	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCCCATATTCCTCTGGATAA	0.373000													12	17					0	0	1	0	0
OR52R1	119695	broad.mit.edu	37	11	4825533	4825533	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4825533G>A	ENST00000380382.1	-	1	314	c.315C>T	c.(313-315)ttC>ttT	p.F105F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Silent_p.F26F			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACAACTGGAAACTCTCCA	0.502000													8	28					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18849183	18849183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18849183G>A	ENST00000266505.7	-	11	1455	c.1192C>T	c.(1192-1194)Cac>Tac	p.H398Y	PLCZ1_ENST00000541695.1_Missense_Mutation_p.H261Y|PLCZ1_ENST00000539875.1_Missense_Mutation_p.H205Y|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000435379.1_Missense_Mutation_p.H203Y|PLCZ1_ENST00000447925.2_Missense_Mutation_p.H396Y|PLCZ1_ENST00000538330.1_Missense_Mutation_p.H180Y			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	398	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTCCTGGTGTGAAAAATAAAC	0.269000													8	8					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125330655	125330655	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:125330655G>A	ENST00000304865.2	-	1	183	c.102C>T	c.(100-102)atC>atT	p.I34I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCAGGTACACGATGAGGAAGA	0.498000													13	23					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178419001	178419001	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178419001G>A	ENST00000231188.5	-	2	766	c.588C>T	c.(586-588)ccC>ccT	p.P196P	GRM6_ENST00000517717.1_Silent_p.P196P	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	196					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGTAGGAGTCGGGTGGCACCA	0.622000													5	38					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243455	13243455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:13243455C>T	ENST00000337630.6	-	2	374	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	GSG1_ENST00000432710.2_Missense_Mutation_p.E116K|GSG1_ENST00000457134.2_Missense_Mutation_p.E103K|GSG1_ENST00000537302.1_Missense_Mutation_p.E103K|GSG1_ENST00000396302.3_Missense_Mutation_p.E103K|GSG1_ENST00000396310.2_Missense_Mutation_p.E100K|GSG1_ENST00000324458.8_Missense_Mutation_p.E116K|GSG1_ENST00000351606.6_Missense_Mutation_p.E116K	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	103						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		TCCACAGTTTCCTCACAGGAT	0.552000													8	47					0	0	1	0	0
MYL7	58498	broad.mit.edu	37	7	44179950	44179950	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44179950G>A	ENST00000458240.1	-	3	477	c.189C>T	c.(187-189)ttC>ttT	p.F63F	MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000223364.3_Silent_p.F90F			Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory	90	EF-hand 1.				actin filament-based movement|smooth muscle contraction	A band|myosin complex	ATPase activity, coupled|calcium ion binding|microfilament motor activity	p.F90L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						AGAGCGTGAGGAAGACGGTGA	0.637000													14	190					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986872	141986872	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141986872C>T	ENST00000389484.3	-	6	1701	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	244					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCATATCTTCATTATAAATA	0.303000										TSP Lung(27;0.18)			10	20					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101044924	101044924	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101044924C>T	ENST00000394095.2	-	24	3069	c.3015_splice	c.e24-1	p.D1006_splice	SENP7_ENST00000358203.3_Splice_Site_p.D842_splice|SENP7_ENST00000394085.3_Splice_Site_p.D194_splice|SENP7_ENST00000314261.7_Splice_Site_p.D940_splice|SENP7_ENST00000348610.3_Splice_Site_p.D973_splice|SENP7_ENST00000394091.1_Splice_Site_p.D842_splice|SENP7_ENST00000394094.2_Splice_Site_p.D941_splice	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1006	Protease.			D -> N (in Ref. 1; AAL25651).	proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACAATAGGATCCTAATGAGAG	0.303000													7	10					0	0	1	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153277427	153277427	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153277427C>T	ENST00000290722.1	-	3	424	c.372G>A	c.(370-372)aaG>aaA	p.K124K		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	124					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTTACCTATCTTATTGCCAA	0.512000													20	37					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46832687	46832687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46832687C>T	ENST00000339613.2	+	12	1751	c.1496C>T	c.(1495-1497)tCc>tTc	p.S499F	HIF3A_ENST00000472815.1_Intron|HIF3A_ENST00000420102.2_Missense_Mutation_p.S504F|HIF3A_ENST00000377670.4_Missense_Mutation_p.S555F|HIF3A_ENST00000244303.6_Missense_Mutation_p.S486F|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.S486F|HIF3A_ENST00000300862.3_Missense_Mutation_p.S553F			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	555	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TCCAGCCCTTCCAGAGGGGAC	0.667000													3	15					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134911659	134911659	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:134911659C>T	ENST00000398015.3	+	11	2494	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F	EPHB1_ENST00000493838.1_Silent_p.F269F	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	708	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TGGATTCTTTCCTCAGGGTAA	0.507000													12	20					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214132	1214132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:1214132C>T	ENST00000304460.10	+	6	895	c.839C>T	c.(838-840)tCc>tTc	p.S280F		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	280					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCTCCTTCTCCCTGGCCTTC	0.642000													59	34					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117884941	117884941	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:117884941G>C	ENST00000439649.3	-	5	913	c.546C>G	c.(544-546)tgC>tgG	p.C182W	GFRA1_ENST00000544592.1_Missense_Mutation_p.C66W|GFRA1_ENST00000369236.1_Missense_Mutation_p.C182W|GFRA1_ENST00000355422.6_Missense_Mutation_p.C187W	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	187					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		TGCGGCGGTTGCAGACATCGT	0.607000													3	30					0	0	1	0	0
FAM220A	84792	broad.mit.edu	37	7	6370174	6370174	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6370174C>T	ENST00000313324.4	-	2	1079	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_001037163.1	NP_001032240.1	Q7Z4H9	SIPAR_HUMAN	family with sequence similarity 220, member A	204						nucleus											TCTCCTCACTCAGGAGCACTT	0.483000													99	74					0	0	1	0	0
KERA	11081	broad.mit.edu	37	12	91449587	91449587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:91449587G>A	ENST00000266719.3	-	2	719	c.472C>T	c.(472-474)Cct>Tct	p.P158S		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	158					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTCCCTTGAGGAATTCTGGAC	0.393000													91	8					0	0	1	0	0
PIGN	23556	broad.mit.edu	37	18	59814235	59814235	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:59814235G>A	ENST00000357637.5	-	9	1189	c.774C>T	c.(772-774)atC>atT	p.I258I	PIGN_ENST00000400334.3_Silent_p.I258I	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	258					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAGAGGTAAAGATAAATGTTG	0.323000													8	10					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046879	73046879	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73046879C>T	ENST00000604411.1	+	0	34840				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						ATGGGCTTTCCATCTTAGTCC	0.488000													31	36					0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38538480	38538480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:38538480C>T	ENST00000399017.2	+	33	6711	c.3964C>T	c.(3964-3966)Cct>Tct	p.P1322S	TTC3_ENST00000354749.2_Missense_Mutation_p.P1322S|TTC3_ENST00000355666.1_Missense_Mutation_p.P1322S|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1322					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TACGTATCTTCCTTTCCAGAG	0.478000													83	94					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4536769	4536769	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4536769G>A	ENST00000570836.1	-	10	1284	c.1188C>T	c.(1186-1188)acC>acT	p.T396T	ALOX15_ENST00000574640.1_Silent_p.T357T|ALOX15_ENST00000545513.1_Silent_p.T418T|ALOX15_ENST00000293761.3_Silent_p.T396T			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	396	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	TAATTTCCAGGGTGTATCGCA	0.517000													21	70					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37581099	37581099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:37581099C>T	ENST00000399151.3	+	5	663	c.578C>T	c.(577-579)cCg>cTg	p.P193L	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	193					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CTGGCCAGCCCGTCCATCCGC	0.612000													16	48					0	0	1	0	0
CKAP5	9793	broad.mit.edu	37	11	46839876	46839876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:46839876G>A	ENST00000529230.1	-	3	282	c.236C>T	c.(235-237)gCc>gTc	p.A79V	CKAP5_ENST00000312055.5_Missense_Mutation_p.A79V|CKAP5_ENST00000354558.3_Missense_Mutation_p.A79V|CKAP5_ENST00000415402.1_Missense_Mutation_p.A79V			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	79					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGCTACATGGGCATTTTCAAC	0.343000													34	49					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174724	63174724	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:63174724C>T	ENST00000322893.7	-	11	2737	c.2469G>A	c.(2467-2469)gaG>gaA	p.E823E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	823					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		CTTCCTTTTTCTCCTCATGGG	0.438000													27	108					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32975518	32975518	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32975518C>T	ENST00000340811.4	-	8	1830	c.1722G>A	c.(1720-1722)ctG>ctA	p.L574L	PKP2_ENST00000070846.6_Silent_p.L618L	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	618					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCTCTGCCTCCAGCTGGTAGG	0.413000													20	58					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181846	65181846	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:65181846G>A	ENST00000310045.7	-	2	1503	c.30C>T	c.(28-30)atC>atT	p.I10I		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	0						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTAACGCCATGATCCATGGGG	0.393000													10	20					0	0	1	0	0
TTC22	55001	broad.mit.edu	37	1	55266809	55266809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:55266809C>T	ENST00000371276.4	-	1	131	c.28G>A	c.(28-30)Gat>Aat	p.D10N	TTC22_ENST00000371274.4_Missense_Mutation_p.D10N	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	10							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						GCGTCTAGATCGTCGGCCACA	0.672000													7	12					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99448966	99448966	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:99448966G>A	ENST00000397899.2	-	5	716	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	KIAA1211L_ENST00000462314.1_5'UTR	NM_207362.2	NP_997245.2			KIAA1211-like																		ACATTACACTGTATTTTTAAC	0.473000													31	13					0	0	1	0	0
ZNF584	201514	broad.mit.edu	37	19	58929094	58929094	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58929094C>T	ENST00000306910.4	+	4	1732	c.1209C>T	c.(1207-1209)gtC>gtT	p.V403V	ZNF584_ENST00000593920.1_Silent_p.V358V|ZNF584_ENST00000599238.1_3'UTR	NM_173548.1	NP_775819.1	Q8IVC4	ZN584_HUMAN	zinc finger protein 584	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		all_cancers(17;5.3e-17)|all_epithelial(17;3.71e-12)|Lung NSC(17;8.3e-05)|Colorectal(82;0.000147)|all_lung(17;0.000386)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0271)		ACAAGAAAGTCCATACTCCAG	0.498000													42	56					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85970861	85970861	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:85970861C>T	ENST00000372117.3	+	13	1528	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	CDHR1_ENST00000332904.3_Silent_p.L475L|CDHR1_ENST00000440770.2_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	475	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCGACTCCCTCTACTACGTTG	0.582000													23	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179582526	179582526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179582526G>A	ENST00000589042.1	-	87	25299	c.25075C>T	c.(25075-25077)Cca>Tca	p.P8359S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P7115S|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P8042S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8042	Ig-like 66.						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)			AAGAAAGGTGGAAGTTTGCGC	0.388000													7	15					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128298085	128298085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128298085C>T	ENST00000368227.3	-	27	4243	c.3877G>A	c.(3877-3879)Gaa>Aaa	p.E1293K	PTPRK_ENST00000368215.3_Missense_Mutation_p.E1275K|PTPRK_ENST00000368213.5_Missense_Mutation_p.E1282K|PTPRK_ENST00000368210.3_Missense_Mutation_p.E1294K|PTPRK_ENST00000532331.1_Missense_Mutation_p.E1298K|PTPRK_ENST00000368226.4_Missense_Mutation_p.E1276K|PTPRK_ENST00000368207.3_Missense_Mutation_p.E1308K			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1275	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|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)		AAGTCGACTTCGTTTAACATC	0.368000													6	12					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769713	13769713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13769713C>T	ENST00000265104.4	-	57	9721	c.9617G>A	c.(9616-9618)gGa>gAa	p.G3206E	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3206	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTTCCAATCCAGTATTCAT	0.418000									Kartagener syndrome				65	28					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163561	167163561	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:167163561C>T	ENST00000303354.6	-	3	622	c.282G>A	c.(280-282)ggG>ggA	p.G94G	SCN9A_ENST00000409435.1_Silent_p.G94G|SCN9A_ENST00000409672.1_Silent_p.G94G|SCN9A_ENST00000375387.4_Silent_p.G94G			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	94						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGATTGTTTTCCCTTTGTTCA	0.328000													6	10					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43864744	43864744	+	Silent	SNP	C	C	T	rs61735848		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43864744C>T	ENST00000319294.6	+	14	1870	c.1839C>T	c.(1837-1839)ctC>ctT	p.L613L	UBASH3A_ENST00000398367.1_Intron|UBASH3A_ENST00000291535.6_Silent_p.L575L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	613	Phosphatase-like.					cytosol|nucleus		p.L613L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TTGCCCAACTCGTGAGAAAGG	0.557000													70	64					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879554	94879554	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:94879554G>A	ENST00000289495.5	+	8	2533	c.2317G>A	c.(2317-2319)Gat>Aat	p.D773N	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D773N|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D773N|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D795N|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D773N|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D773N	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	773	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTTGATCAAGGATTTTCAACA	0.348000										HNSCC(28;0.073)			27	22					0	0	1	0	0
TRIM4	89122	broad.mit.edu	37	7	99490094	99490094	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99490094C>G	ENST00000355947.2	-	7	1324	c.1195G>C	c.(1195-1197)Gag>Cag	p.E399Q	TRIM4_ENST00000349062.2_Missense_Mutation_p.E373Q	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	399	B30.2/SPRY.				protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ATGACGTCCTCCCGACACACC	0.488000													79	154					0	0	1	0	0
FBXW12	285231	broad.mit.edu	37	3	48422237	48422237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:48422237C>T	ENST00000296438.5	+	8	1006	c.820C>T	c.(820-822)Cct>Tct	p.P274S	FBXW12_ENST00000445170.1_Missense_Mutation_p.P255S|FBXW12_ENST00000415155.1_Missense_Mutation_p.P204S|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000436231.1_Missense_Mutation_p.P117S	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	274										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGCAGTGTTCCTCTGTCTAC	0.483000													13	82					0	0	1	0	0
SLC16A9	220963	broad.mit.edu	37	10	61443910	61443910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61443910C>T	ENST00000395348.3	-	2	776	c.140G>A	c.(139-141)gGa>gAa	p.G47E	SLC16A9_ENST00000490066.1_5'UTR|SLC16A9_ENST00000395347.1_Missense_Mutation_p.G47E	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	47					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						TTTTCCTTTTCCTTCACCAAA	0.433000													64	35					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271327	36271327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36271327G>A	ENST00000007510.4	+	8	773	c.629G>A	c.(628-630)gGa>gAa	p.G210E	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G74E|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G210E			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	210	SH3.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCCCAGGTGGGAGACATTGTC	0.642000													7	19					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203682187	203682187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:203682187C>T	ENST00000392237.2	-	7	795	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ICA1L_ENST00000358299.2_Missense_Mutation_p.G213E	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	213	AH.									breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCGACTAGCTCCAAGTAAATC	0.403000													118	81					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119726782	119726782	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:119726782G>A	ENST00000541757.1	+	0	290				MARCO_ENST00000327097.4_Silent_p.V48V			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure						cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CCCTAGCTGTGGTGGTCATCT	0.582000													13	43					0	0	1	0	0
KLHL1	57626	broad.mit.edu	37	13	70456521	70456521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:70456521G>A	ENST00000377844.4	-	5	1880	c.1121C>T	c.(1120-1122)aCc>aTc	p.T374I	KLHL1_ENST00000545028.1_Missense_Mutation_p.T181I	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	374					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ATGGAAGATGGTTTCTTCATC	0.423000													15	37					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93969189	93969189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:93969189G>A	ENST00000369303.4	-	10	1991	c.1807C>T	c.(1807-1809)Cca>Tca	p.P603S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	603						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTGGTGCCTGGAAATTTAACT	0.423000													22	21					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1095663	1095663	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1095663G>A	ENST00000441003.2	+	33	6201		c.e33-1		MUC2_ENST00000361558.6_Splice_Site|MUC2_ENST00000333592.6_Splice_Site	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming							inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCCGTCCCCAGGAGAACGAGA	0.657000													4	11					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921945	24921945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24921945C>T	ENST00000329468.2	+	1	1405	c.931C>T	c.(931-933)Cct>Tct	p.P311S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTTCTGTATTCCTCCAAGGAG	0.577000													33	53					0	0	1	0	0
MS4A1	931	broad.mit.edu	37	11	60229883	60229883	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:60229883C>T	ENST00000534668.1	+	2	325	c.36C>T	c.(34-36)ttC>ttT	p.F12F	MS4A1_ENST00000389939.2_Silent_p.F12F|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000345732.4_Silent_p.F12F|MS4A1_ENST00000532073.1_Silent_p.F12F|MS4A1_ENST00000528313.1_Silent_p.F12F	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	12					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATGGGACTTTCCCGGCAGAGC	0.423000													33	29					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45004421	45004421	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:45004421G>A	ENST00000372176.1	-	12	1020	c.552C>T	c.(550-552)atC>atT	p.I184I	ELMO2_ENST00000290246.6_Silent_p.I272I|ELMO2_ENST00000439931.2_Silent_p.I284I|ELMO2_ENST00000352077.2_Silent_p.I270I|ELMO2_ENST00000454865.2_Silent_p.I4I|ELMO2_ENST00000396391.1_Silent_p.I272I|ELMO2_ENST00000445496.2_Silent_p.I89I|ELMO2_ENST00000488853.1_5'UTR			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	272					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GGTTCCCTCGGATCACATGCT	0.473000													9	38					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661289	40661289	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:40661289C>T	ENST00000267889.3	+	8	3063	c.2976C>T	c.(2974-2976)tcC>tcT	p.S992S	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	992					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCTATTCTCCGTGGCAGCTG	0.627000													19	60					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133107539	133107539	+	Silent	SNP	C	C	T	rs148480002		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:133107539C>T	ENST00000368642.4	-	2	451	c.366G>A	c.(364-366)ccG>ccA	p.P122P		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	122										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GTCCTAGGGACGGAGAATGGC	0.532000													27	26					0	0	1	0	0
CHD7	55636	broad.mit.edu	37	8	61778215	61778215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:61778215C>T	ENST00000423902.2	+	38	9196	c.8717C>T	c.(8716-8718)tCc>tTc	p.S2906F	CHD7_ENST00000524602.1_Missense_Mutation_p.S857F	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2906					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TTCTACCCATCCATGTTTCTA	0.592000													22	63					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78010772	78010772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:78010772C>T	ENST00000435339.2	+	2	811	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	LPAR4_ENST00000373301.2_Missense_Mutation_p.R136C	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	136						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TAGTGTGGATCGTTTCCTGGC	0.483000													36	45					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436970	248436970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248436970C>T	ENST00000318021.2	-	1	168	c.147G>A	c.(145-147)tgG>tgA	p.W49*		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCCGGTGGTCCCAGTGAATCA	0.522000													11	107					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35128791	35128791	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35128791C>T	ENST00000373913.3	+	10	2760	c.2280C>T	c.(2278-2280)tcC>tcT	p.S760S	DLGAP4_ENST00000373907.2_Silent_p.S763S|DLGAP4_ENST00000340491.4_Silent_p.S224S|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Silent_p.S763S|DLGAP4_ENST00000401952.2_Silent_p.S760S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	763					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCAACCTCTCCTATGGAGACA	0.667000													24	29					0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039415	55039415	+	Silent	SNP	C	C	T	rs143272352		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55039415C>T	ENST00000370862.3	+	1	366	c.30C>T	c.(28-30)ccC>ccT	p.P10P		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	10			P -> S (in dbSNP:rs41271310).		feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGACTCCCCCCCTTGTCGCA	0.557000													21	42					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178419002	178419002	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178419002G>A	ENST00000231188.5	-	2	765	c.587C>T	c.(586-588)cCc>cTc	p.P196L	GRM6_ENST00000517717.1_Missense_Mutation_p.P196L	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	196					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GTAGGAGTCGGGTGGCACCAC	0.622000													5	39					0	0	1	0	0
MAP4K3	8491	broad.mit.edu	37	2	39499509	39499509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:39499509G>A	ENST00000263881.3	-	26	2212	c.1888C>T	c.(1888-1890)Cca>Tca	p.P630S	MAP4K3_ENST00000536018.1_Missense_Mutation_p.P183S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P546S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P609S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	630	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AAAAGCCCTGGTAAATTATGG	0.333000													11	52					0	0	1	0	0
TEAD3	7005	broad.mit.edu	37	6	35446053	35446053	+	Splice_Site	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35446053C>G	ENST00000338863.7	-	7	756	c.530_splice	c.e7+1	p.D177_splice	TEAD3_ENST00000402886.3_Splice_Site_p.D117_splice	NM_003214.3	NP_003205.2	Q99594	TEAD3_HUMAN	TEA domain family member 3	177	Pro-rich.|Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						AATACTCACTCCTGAGAGGGT	0.607000													23	21					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016395	27016395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:27016395G>A	ENST00000318627.2	+	1	768	c.322G>A	c.(322-324)Gac>Aac	p.D108N		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	108						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						CATCTCCTACGACCTAGACGG	0.627000													10	38					0	0	1	0	0
ATP10B	23120	broad.mit.edu	37	5	160042920	160042920	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:160042920C>T	ENST00000327245.5	-	17	3424	c.2578G>A	c.(2578-2580)Gag>Aag	p.E860K	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	860					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGATGCCTCAGCCTCACGC	0.478000													10	41					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121994834	121994834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121994834G>A	ENST00000498619.1	+	5	1991	c.1553G>A	c.(1552-1554)gGa>gAa	p.G518E	CASR_ENST00000296154.5_Missense_Mutation_p.G518E|CASR_ENST00000490131.1_Missense_Mutation_p.G518E	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	518					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCAAGAAGGGAGAAAGACTC	0.517000													67	41					0	0	1	0	0
FAM26F	441168	broad.mit.edu	37	6	116784568	116784568	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:116784568G>A	ENST00000368605.1	+	3	743	c.648G>A	c.(646-648)caG>caA	p.Q216Q	FAM26F_ENST00000368606.3_Silent_p.Q44Q|RP1-93H18.6_ENST00000476099.1_RNA	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	216						integral to membrane				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		ATTTGGAACAGGAGCAGCAGA	0.378000													16	37					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39729898	39729898	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:39729898C>A	ENST00000361337.2	+	13	1463	c.1213C>A	c.(1213-1215)Cgg>Agg	p.R405R	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	405					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	GAAAGAAGTCCGGCATGATAA	0.423000			T	NUP98	AML*								27	34					1.50538e-07	1.51202e-07	1	1	0
OR4K1	79544	broad.mit.edu	37	14	20403870	20403870	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20403870G>A	ENST00000285600.4	+	1	104	c.45G>A	c.(43-45)ttG>ttA	p.L15L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTGTACTTTTGGGACTCTCTA	0.348000													66	215					0	0	1	0	0
COG7	91949	broad.mit.edu	37	16	23444964	23444964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23444964C>T	ENST00000307149.5	-	6	897	c.712G>A	c.(712-714)Gag>Aag	p.E238K		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	238					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGACACAGCTCTTGCCAGGCT	0.532000													12	26					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95524276	95524276	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95524276G>A	ENST00000297591.5	-	12	2868	c.2793C>T	c.(2791-2793)acC>acT	p.T931T	KIAA1429_ENST00000437199.1_Silent_p.T931T|KIAA1429_ENST00000421249.2_Silent_p.T931T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	931					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTAAGGCAGTGGTAAGGCCAA	0.383000													18	20					0	0	1	0	0
PCGF5	84333	broad.mit.edu	37	10	92982654	92982654	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:92982654T>G	ENST00000336126.5	+	2	258	c.26T>G	c.(25-27)gTg>gGg	p.V9G	PCGF5_ENST00000543648.1_Missense_Mutation_p.V9G|PCGF5_ENST00000371687.2_Missense_Mutation_p.V9G|PCGF5_ENST00000490164.1_3'UTR	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						AAACACTTGGTGAAAGATTTT	0.423000													16	12					0	0	1	0	0
USP9Y	8287	broad.mit.edu	37	Y	14902403	14902403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:14902403C>T	ENST00000338981.3	+	25	4570	c.3625C>T	c.(3625-3627)Ccc>Tcc	p.P1209S	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1209					BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATTCCTAATCCCTCATCCGA	0.378000													19	21					0	0	1	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478439	14478439	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14478439C>T	ENST00000581457.1	-	0	1469					NR_024076.1																						TCCCTGATATCGTGATGAACT	0.448000													7	5					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274037	10274037	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:10274037C>T	ENST00000396573.2	-	3	541	c.232G>A	c.(232-234)Gac>Aac	p.D78N	GRIN2A_ENST00000562109.1_Missense_Mutation_p.D78N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D78N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.D78N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D78N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	78					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCTTGGGGTCGGTGCGGTTC	0.667000													17	75					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063117	9063117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9063117C>T	ENST00000397910.4	-	3	24532	c.24329G>A	c.(24328-24330)aGa>aAa	p.R8110K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8112	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTGAATTCTGCTAGTCTC	0.493000													31	59					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326619	57326619	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57326619T>G	ENST00000326441.9	-	10	3554	c.3191A>C	c.(3190-3192)cAa>cCa	p.Q1064P	PEG3_ENST00000423103.2_Missense_Mutation_p.Q1064P|PEG3_ENST00000593695.1_Missense_Mutation_p.Q938P|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q940P|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1064					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATTCTCGCCTTGAGACTCCTC	0.478000													23	73					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166910643	166910643	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:166910643G>A	ENST00000061240.2	+	2	927	c.280_splice	c.e2+1	p.G94_splice	TLL1_ENST00000513213.1_Splice_Site_p.G94_splice|TLL1_ENST00000507499.1_Splice_Site_p.G94_splice	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	94					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ACATACCACAGGTATGGTTGA	0.343000													62	66					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3077382	3077382	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3077382C>T	ENST00000326266.8	+	12	1122	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	THOC6_ENST00000575576.1_Nonsense_Mutation_p.Q252*|THOC6_ENST00000574549.1_Nonsense_Mutation_p.Q252*|THOC6_ENST00000253952.9_Intron	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	276					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						GTCAGCTGGCCAGGGCCGCTG	0.652000													23	34					0	0	1	0	0
DHCR7	1717	broad.mit.edu	37	11	71155081	71155081	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71155081C>T	ENST00000355527.3	-	4	555	c.279G>A	c.(277-279)acG>acA	p.T93T	DHCR7_ENST00000407721.2_Silent_p.T93T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	93			T -> M (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CGGCTTTCCTCGTTATAGGTG	0.627000									Smith-Lemli-Opitz syndrome				8	25					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45401769	45401769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45401769G>A	ENST00000389039.6	-	11	1572	c.1187C>T	c.(1186-1188)tCc>tTc	p.S396F	DUOX2_ENST00000603300.1_Missense_Mutation_p.S396F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	396	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGAAATCTGGGAGGCCATTCC	0.522000													13	133					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11367483	11367483	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:11367483A>T	ENST00000315872.6	-	6	1213	c.765T>A	c.(763-765)gaT>gaA	p.D255E	ROCK2_ENST00000401753.1_Missense_Mutation_p.D12E	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	255	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTGATATATAATCCGGTGTTC	0.408000													31	209					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510677	169510677	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169510677G>A	ENST00000367796.3	-	13	3867	c.3666C>T	c.(3664-3666)ctC>ctT	p.L1222L	F5_ENST00000367797.3_Silent_p.L1217L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1217	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTCTCTGAATGAGTTCTGGAG	0.537000													148	252					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088141	86088141	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86088141C>T	ENST00000330753.4	+	2	1050	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	FLRT2_ENST00000554746.1_Silent_p.L95L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	95					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.L95L(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CACGGTCTACCTGTATGGCAA	0.478000													23	94					0	0	1	0	0
OR5D14	219436	broad.mit.edu	37	11	55563235	55563235	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55563235C>T	ENST00000335605.1	+	1	204	c.204C>T	c.(202-204)ctC>ctT	p.L68L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAGTCACCTCTCTTTTGTTG	0.378000													28	45					0	0	1	0	0
GLG1	2734	broad.mit.edu	37	16	74497348	74497348	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:74497348G>A	ENST00000422840.2	-	20	2696	c.2697C>T	c.(2695-2697)acC>acT	p.T899T	GLG1_ENST00000205061.5_Silent_p.T899T|GLG1_ENST00000447066.2_Silent_p.T888T	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	899						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						ACTGCAACATGGTTTTAGAAT	0.403000													13	13					0	0	1	0	0
MARCH10	162333	broad.mit.edu	37	17	60821749	60821749	+	Missense_Mutation	SNP	G	G	A	rs140083317		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:60821749G>A	ENST00000544856.2	-	6	898	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	MARCH10_ENST00000583600.1_Missense_Mutation_p.P213S|MARCH10_ENST00000456609.2_Missense_Mutation_p.P175S|MARCH10_ENST00000311269.5_Missense_Mutation_p.P175S			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	175							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTCCCCTGGGAACCGGCACC	0.532000													34	176					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7846844	7846844	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7846844G>A	ENST00000328375.1	-	1	675	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGCATCTTCAGGATGGTGATG	0.463000													18	56					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196695995	196695995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196695995G>A	ENST00000367429.4	+	14	2401	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	721	Sushi 12.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CAATTGCTCAGAATCATTTAC	0.433000													15	93					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108489194	108489194	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:108489194G>A	ENST00000408999.3	+	20	4811	c.4734G>A	c.(4732-4734)ttG>ttA	p.L1578L	RGPD4_ENST00000354986.4_Silent_p.L1578L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1578					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATGCATCTTTGAAAAGTAACA	0.353000													70	197					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102049854	102049854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:102049854C>T	ENST00000318222.3	-	14	2550	c.2168G>A	c.(2167-2169)gGa>gAa	p.G723E	PKD2L1_ENST00000353274.3_Missense_Mutation_p.G723E|PKD2L1_ENST00000338519.3_Missense_Mutation_p.G648E	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	723					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGACACTACTCCTTCCAGGAC	0.562000													46	65					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71375682	71375682	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:71375682T>C	ENST00000392650.3	-	35	4769	c.4769A>G	c.(4768-4770)aAc>aGc	p.N1590S	SDK2_ENST00000388726.3_Missense_Mutation_p.N1571S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1590	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTGTGCTTGTTCAGGTCTGT	0.642000													29	23					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140256431	140256431	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140256431C>T	ENST00000398631.2	+	1	1374	c.1374C>T	c.(1372-1374)ccC>ccT	p.P458P	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGCAGCCCGAGTACACAG	0.657000													30	113					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635262	7635262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7635262C>T	ENST00000359156.4	-	14	3426	c.3224G>A	c.(3223-3225)cGa>cAa	p.R1075Q	CD163_ENST00000541972.1_Missense_Mutation_p.R1063Q|CD163_ENST00000396620.3_Missense_Mutation_p.R1108Q|CD163_ENST00000432237.2_Missense_Mutation_p.R1075Q	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1075					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	p.R1075Q(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCTCTGTCTTCGCTTTTTAGT	0.433000													43	130					0	0	1	0	0
EZH1	2145	broad.mit.edu	37	17	40858135	40858135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40858135C>T	ENST00000428826.2	-	16	1850	c.1729G>A	c.(1729-1731)Gca>Aca	p.A577T	EZH1_ENST00000590078.1_Missense_Mutation_p.A507T|EZH1_ENST00000415827.2_Missense_Mutation_p.A568T|EZH1_ENST00000435174.1_Missense_Mutation_p.A438T|EZH1_ENST00000585893.1_Missense_Mutation_p.A537T|EZH1_ENST00000592743.1_Missense_Mutation_p.A577T|EZH1_ENST00000590783.1_Intron			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	577	Cys-rich.				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TCTCGCACTGCCAGATAGCAA	0.537000													24	67					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015204	135015204	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135015204G>A	ENST00000304613.3	+	17	3210	c.3189G>A	c.(3187-3189)gtG>gtA	p.V1063V	KNDC1_ENST00000368572.2_Silent_p.V1065V|KNDC1_ENST00000368571.2_Silent_p.V998V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1063					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCAGACGTGGAGGCAGTGA	0.697000													16	24					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3723945	3723945	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:3723945A>G	ENST00000324932.7	-	23	3680	c.3260T>C	c.(3259-3261)gTt>gCt	p.V1087A	NUP98_ENST00000359171.4_Missense_Mutation_p.V1087A|NUP98_ENST00000355260.3_Missense_Mutation_p.V1087A	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1104					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TTTCAACGGAACCTCAGGGGC	0.522000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								20	33					0	0	1	0	0
OTOL1	131149	broad.mit.edu	37	3	161214886	161214886	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:161214886C>T	ENST00000327928.4	+	1	291	c.291C>T	c.(289-291)ttC>ttT	p.F97F		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	97						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CAGCTGATTTCTTTTTGAATT	0.443000													89	40					0	0	1	0	0
MFGE8	4240	broad.mit.edu	37	15	89453037	89453037	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:89453037T>C	ENST00000539437.1	-	3	303	c.167A>G	c.(166-168)aAc>aGc	p.N56S	MFGE8_ENST00000566497.1_Missense_Mutation_p.N64S|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.N64S|MFGE8_ENST00000268150.8_Missense_Mutation_p.N64S|MFGE8_ENST00000542878.1_Intron			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	64	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CTCACAGTGGTTGCCCGCGTA	0.567000													57	50					0	0	1	0	0
RP11-478B9.1	0	broad.mit.edu	37	12	45458880	45458880	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:45458880C>T	ENST00000548424.1	+	0	448																											CTCAGCTCTCCGTTTGGATGT	0.458000													12	13					0	0	1	0	0
ACBD4	79777	broad.mit.edu	37	17	43215131	43215131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:43215131C>T	ENST00000431281.1	+	9	1014	c.545C>T	c.(544-546)cCc>cTc	p.P182L	ACBD4_ENST00000586346.1_Missense_Mutation_p.P182L|ACBD4_ENST00000321854.8_Silent_p.S169S|ACBD4_ENST00000592162.1_Silent_p.S169S|ACBD4_ENST00000591859.1_Missense_Mutation_p.P182L|ACBD4_ENST00000591136.1_3'UTR|ACBD4_ENST00000376955.4_Silent_p.S169S|ACBD4_ENST00000398322.3_Silent_p.S169S	NM_001135704.1	NP_001129176.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	169							fatty-acyl-CoA binding			kidney(1)|lung(3)|ovary(1)	5						CCACAGAGTCCCATTCACCCA	0.592000													34	153					0	0	1	0	0
ITSN2	50618	broad.mit.edu	37	2	24523000	24523000	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:24523000C>T	ENST00000355123.4	-	12	1565	c.1122G>A	c.(1120-1122)ggG>ggA	p.G374G	ITSN2_ENST00000361999.3_Silent_p.G374G|ITSN2_ENST00000406921.3_Silent_p.G374G	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	374					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCATGTTCCCTCGCTCAT	0.473000													91	151					0	0	1	0	0
SYNE3	161176	broad.mit.edu	37	14	95906269	95906269	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:95906269G>A	ENST00000334258.5	-	11	2069	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S	SYNE3_ENST00000557275.1_Silent_p.S685S|SYNE3_ENST00000554873.1_Silent_p.S442S	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CGGCCTCTTGGGACTCGGCAT	0.627000													30	95					0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42895469	42895469	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:42895469G>A	ENST00000399770.2	+	1	186	c.186G>A	c.(184-186)caG>caA	p.Q62Q		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	62					cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						ATGGACAGCAGAATGGCCACA	0.483000													86	13					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101589973	101589973	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:101589973G>T	ENST00000284395.5	+	24	3815	c.3415G>T	c.(3415-3417)Gat>Tat	p.D1139Y	LRRK1_ENST00000388948.3_Missense_Mutation_p.D1142Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1142					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCTTGATTGATCAGTGGTT	0.463000													32	33					2.80507e-11	2.82679e-11	1	1	0
SLC22A8	9376	broad.mit.edu	37	11	62766404	62766404	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62766404G>A	ENST00000336232.2	-	5	885	c.750C>T	c.(748-750)ttC>ttT	p.F250F	SLC22A8_ENST00000545207.1_Silent_p.F159F|SLC22A8_ENST00000535878.1_Silent_p.F127F|SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000311438.8_Silent_p.F250F|SLC22A8_ENST00000430500.2_Silent_p.F250F	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	250					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGGATGATAGGAAGAAGACGA	0.577000													22	33					0	0	1	0	0
OR52J3	119679	broad.mit.edu	37	11	5068652	5068652	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5068652G>A	ENST00000380370.1	+	1	897	c.897G>A	c.(895-897)caG>caA	p.Q299Q		NM_001001916.2	NP_001001916.2	Q8NH60	O52J3_HUMAN	olfactory receptor, family 52, subfamily J, member 3	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q299H(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGACCAAACAGATTCGAGAAC	0.378000													14	41					0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52993551	52993551	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:52993551G>A	ENST00000259803.7	-	6	975	c.764C>T	c.(763-765)tCc>tTc	p.S255F		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	255						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GTCCACAGTGGAAGTCTGGTC	0.473000													9	66					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38302620	38302620	+	Silent	SNP	G	G	A	rs138442090		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:38302620G>A	ENST00000399120.1	-	6	2340	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	HLCS_ENST00000336648.3_Silent_p.T370T|HLCS_ENST00000482273.1_5'UTR	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	370					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGAGGCCAAGGGTTGTCAGAA	0.483000													20	27					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062726	9062726	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062726C>T	ENST00000397910.4	-	3	24923	c.24720G>A	c.(24718-24720)gaG>gaA	p.E8240E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8242	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGTGGTCATCTCTGAGTGTG	0.498000													22	30					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564383	39564383	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39564383C>T	ENST00000265707.5	+	18	2022	c.1977C>T	c.(1975-1977)tcC>tcT	p.S659S	ADAM18_ENST00000379866.1_Silent_p.S635S|ADAM18_ENST00000541111.1_Silent_p.S73S|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	659					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGTTTGGTTCCCCAGGGGGTA	0.318000													23	61					0	0	1	0	0
NDUFB6	4712	broad.mit.edu	37	9	32572893	32572893	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32572893G>A	ENST00000379847.3	-	1	267	c.166C>T	c.(166-168)Cct>Tct	p.P56S	NDUFB6_ENST00000350021.2_Missense_Mutation_p.P56S	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa	56					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)	NADH(DB00157)	TTCCTCCAAGGGGATTTATTC	0.577000											OREG0019131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	10					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210560569	210560569	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:210560569C>T	ENST00000360351.4	+	7	4181	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.I1221I|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1225					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.I1225I(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGAAACGATCGTATCTGAAC	0.453000													4	33					0	0	1	0	0
ACSF2	80221	broad.mit.edu	37	17	48551589	48551589	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48551589C>T	ENST00000427954.2	+	16	1876	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	ACSF2_ENST00000502667.1_Silent_p.I573I|ACSF2_ENST00000506085.1_3'UTR|ACSF2_ENST00000541920.1_Silent_p.I426I|ACSF2_ENST00000504392.1_Silent_p.I543I|ACSF2_ENST00000300441.4_Silent_p.I586I			Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	586					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGAAGTACATCGTGTTTGTCA	0.592000													90	78					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48138177	48138177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:48138177G>A	ENST00000311303.3	-	20	3121	c.2776C>T	c.(2776-2778)Cac>Tac	p.H926Y	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	926	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTCTCTGCGTGAAACGGCAGC	0.488000													17	38					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156308	155156308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155156308C>T	ENST00000357232.3	-	25	8130	c.8131G>A	c.(8131-8133)Gaa>Aaa	p.E2711K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2711					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E2711K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGATCTCCTTCCCCAAATGTT	0.532000													29	50					0	0	1	0	0
SBK1	388228	broad.mit.edu	37	16	28331744	28331744	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:28331744C>T	ENST00000341901.4	+	4	1566	c.777C>T	c.(775-777)gcC>gcT	p.A259A		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	259	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CGTCGGGCGCCGACGCCTTCT	0.726000													8	26					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21318775	21318775	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:21318775A>G	ENST00000583088.1	+	3	1016	c.121A>G	c.(121-123)Agg>Ggg	p.R41G	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R41G	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CACGCGGCGCAGGTGCCGCAA	0.607000										Prostate(3;0.18)			6	33					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108428	168108428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168108428C>T	ENST00000409195.1	+	9	10615	c.10526C>T	c.(10525-10527)aCc>aTc	p.T3509I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T3287I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3509I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3334					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGAGAACCACCTTCCAAGAG	0.388000													6	31					0	0	1	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602022	234602022	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:234602022C>T	ENST00000305139.6	+	1	511	c.372C>T	c.(370-372)atC>atT	p.I124I	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TGTACTTCATCAACTGCCAGA	0.468000													9	27					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101487313	101487313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:101487313C>T	ENST00000370483.5	-	3	330	c.280G>A	c.(280-282)Gag>Aag	p.E94K	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.E94K	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	94					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AGGCCAGACTCTGTCAACCTT	0.423000													63	26					0	0	1	0	0
TMEM72	643236	broad.mit.edu	37	10	45430455	45430455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:45430455C>T	ENST00000544540.1	+	4	831	c.347C>T	c.(346-348)tCc>tTc	p.S116F	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	234						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ATAGTCCCCTCCCTCGCCGAA	0.612000													24	80					0	0	1	0	0
XPO5	57510	broad.mit.edu	37	6	43533451	43533451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:43533451G>A	ENST00000265351.7	-	8	1067	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	286					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GACCATCAAGGGCTTCCGGTC	0.373000													5	13					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138545921	138545921	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138545921G>A	ENST00000440172.1	-	16	5259	c.5211C>T	c.(5209-5211)ttC>ttT	p.F1737F	KIAA1549_ENST00000422774.1_Silent_p.F1737F|KIAA1549_ENST00000242365.4_Silent_p.F1687F	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1737						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTGGGCTGTAGAAGGACCCCC	0.612000			O	BRAF	pilocytic astrocytoma								22	35					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473054	22473054	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22473054G>A	ENST00000557788.2	-	0	216																											CTCCCACTATGATAGATTTCC	0.562000													20	313					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179497525	179497525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179497525C>T	ENST00000367618.3	+	23	3061	c.2674C>T	c.(2674-2676)Cat>Tat	p.H892Y		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	892	Glu-rich.									NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TGAAAATGTTCATTCCAAACC	0.378000													10	41					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51630492	51630492	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51630492C>T	ENST00000440804.3	+	4	1021	c.954C>T	c.(952-954)ttC>ttT	p.F318F	SIGLEC9_ENST00000250360.3_Silent_p.F318F	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	318	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAGCTGAATTCACCTGCAGAG	0.627000													6	25					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49009250	49009250	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:49009250C>T	ENST00000226432.4	+	8	1276	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L	CWH43_ENST00000513409.1_Silent_p.L338L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	365					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGAATATGCTATTTGGTCC	0.323000													17	46					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87763712	87763712	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87763712A>G	ENST00000398204.4	+	13	1469	c.1146A>G	c.(1144-1146)tcA>tcG	p.S382S	ADAM22_ENST00000398209.3_Silent_p.S382S|ADAM22_ENST00000265727.7_Silent_p.S382S|ADAM22_ENST00000315984.7_Silent_p.S382S|ADAM22_ENST00000398201.4_Silent_p.S382S	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	382	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GTATTATCTCAGACAAAAGAA	0.284000													16	38					0	0	1	0	0
GLIS3	169792	broad.mit.edu	37	9	3937095	3937095	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:3937095G>A	ENST00000324333.10	-	4	1533	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L	GLIS3_ENST00000381971.3_Missense_Mutation_p.P602L|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	447					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTGACAACCCGGATGCTGGCA	0.532000													50	9					0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45987722	45987722	+	Missense_Mutation	SNP	G	G	A	rs140976669		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45987722G>A	ENST00000323084.4	-	2	315	c.250C>T	c.(250-252)Cct>Tct	p.P84S	TSPEAR_ENST00000397916.1_Missense_Mutation_p.P16S	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	84	TSP N-terminal.				cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						AATTCTTCAGGGAAGAGGTCA	0.517000													35	37					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165626	51165626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51165626G>A	ENST00000293441.1	-	23	6100	c.6082C>T	c.(6082-6084)Ctc>Ttc	p.L2028F	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000359082.3_Missense_Mutation_p.L2019F|SHANK1_ENST00000391814.1_Missense_Mutation_p.L2036F|SHANK1_ENST00000391813.1_Missense_Mutation_p.L1415F	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2028					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCTGGGTAGAGGGGTCCGGAA	0.716000													9	10					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95272458	95272458	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95272458C>T	ENST00000297596.2	-	2	538	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	GEM_ENST00000396194.2_Missense_Mutation_p.A92T	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	92					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			AAGATGTTGGCCAGAGTGGAC	0.597000													19	29					0	0	1	0	0
LINC00264	645528	broad.mit.edu	37	10	26880239	26880239	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26880239G>A	ENST00000412114.1	+	0	474					NR_026793.1																						TCCCTCTCAGGACCTATAAAA	0.423000													14	21					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154091173	154091173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154091173C>T	ENST00000368559.3	-	11	1509	c.1438G>A	c.(1438-1440)Gga>Aga	p.G480R	NUP210L_ENST00000271854.3_Missense_Mutation_p.G480R	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	480						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATAACATTCCCATAGGATGA	0.338000													32	156					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26790013	26790013	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26790013A>G	ENST00000376236.4	+	5	881	c.426A>G	c.(424-426)ccA>ccG	p.P142P	APBB1IP_ENST00000356785.4_Silent_p.P142P	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	142	Pro-rich.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTCCACTGCCACCACCACCTC	0.502000													70	77					0	0	1	0	0
NBPF22P	285622	broad.mit.edu	37	5	85578736	85578736	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:85578736C>T	ENST00000590707.1	+	0	459					NR_003719.2																						CTGCCTACTCCCTGGCCAACC	0.433000													4	7					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9046005	9046005	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9046005C>T	ENST00000397910.4	-	5	35829	c.35626G>A	c.(35626-35628)Ggc>Agc	p.G11876S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11878	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCCAGTAAGCCTGTAGTCTCT	0.493000													28	115					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569062	61569062	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:61569062G>A	ENST00000457692.1	+	7	957	c.624G>A	c.(622-624)tgG>tgA	p.W208*	SERPINB2_ENST00000299502.4_Nonsense_Mutation_p.W208*|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	208					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	AAGGAAAGTGGAAAACTCCAT	0.398000													23	25					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38885467	38885467	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:38885467C>T	ENST00000274276.3	+	6	1122	c.720C>T	c.(718-720)ccC>ccT	p.P240P	OSMR_ENST00000502536.1_Silent_p.P240P	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	240					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTGAGGAGCCCAAGGACTTTT	0.438000													41	20					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31318062	31318062	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:31318062C>T	ENST00000514738.1	+	11	2178	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				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						TCCTATCTCCCCATGGTGAGG	0.532000													51	23					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764729	92764729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92764729C>T	ENST00000318238.4	-	5	1772	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E186K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E186K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	186										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCTCCTGTTTCAGGTTGTAGA	0.393000													28	90					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56247505	56247505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56247505G>A	ENST00000361673.3	-	4	716	c.503C>T	c.(502-504)tCc>tTc	p.S168F		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	168							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAATGGTTGGATTTGGAGGG	0.483000													49	69					0	0	1	0	0
GP2	2813	broad.mit.edu	37	16	20335551	20335551	+	Missense_Mutation	SNP	G	G	A	rs140222432		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20335551G>A	ENST00000302555.5	-	3	271	c.122C>T	c.(121-123)tCg>tTg	p.S41L	GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Missense_Mutation_p.S41L|GP2_ENST00000341642.5_Intron			P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	41						anchored to membrane|extracellular region|plasma membrane		p.S41L(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CAGCCCATACGAACTGGCTTC	0.532000													31	17					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94145904	94145904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:94145904C>T	ENST00000282020.4	+	7	1361	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	GRID2_ENST00000510992.1_Missense_Mutation_p.S273F	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	368					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGTGGGCGCTCCATGTTGGAG	0.398000													5	36					0	0	1	0	0
SP8	221833	broad.mit.edu	37	7	20825373	20825373	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20825373G>A	ENST00000361443.4	-	3	246	c.9C>T	c.(7-9)gcC>gcT	p.A3A	SP8_ENST00000418710.2_Silent_p.A21A	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						TACAGGTAGCGGCAAGCATGG	0.627000													35	55					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106815544	106815544	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:106815544G>A	ENST00000407775.2	+	8	3484	c.3234G>A	c.(3232-3234)tgG>tgA	p.W1078*	ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.W946*|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.W809*|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.W946*|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1078					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTCCCTCGTGGATCTCTGAGA	0.483000													19	25					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120979129	120979129	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:120979129A>T	ENST00000222462.2	+	4	1118	c.828A>T	c.(826-828)aaA>aaT	p.K276N	WNT16_ENST00000361301.2_Missense_Mutation_p.K266N	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	276					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					ATCAGAGGAAAATACCAATCC	0.378000													7	13					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762623	130762623	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:130762623G>A	ENST00000392429.1	+	2	3434	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G	TMEM200A_ENST00000296978.3_Silent_p.G352G|TMEM200A_ENST00000545622.1_Silent_p.G352G	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	352						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ATTCCATTGGGGAGTCGTTGT	0.517000													15	18					0	0	1	0	0
MIR1283-1	100302265	broad.mit.edu	37	19	54191757	54191757	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54191757G>A	ENST00000408494.1	+	0	23					NR_031573.1																						GTCTACAAAGGAAAGCGCTTT	0.408000													38	43					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136093	55136093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55136093C>T	ENST00000314706.3	+	1	734	c.734C>T	c.(733-735)tCc>tTc	p.S245F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATCCTGCTTTCCTATGGGGTC	0.428000													35	46					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140433458	140433458	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140433458G>A	ENST00000306549.3	+	1	2480	c.2403G>A	c.(2401-2403)agG>agA	p.R801R		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		801					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCTGATAGGAATAAGTCTC	0.438000													52	28					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117199657	117199657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:117199657C>T	ENST00000003084.6	+	11	1664	c.1532C>T	c.(1531-1533)tCc>tTc	p.S511F	CFTR_ENST00000454343.1_Missense_Mutation_p.S450F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	511	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTGGTGTTTCCTATGATGAA	0.358000									Cystic Fibrosis				22	37					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286571	240286571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:240286571C>T	ENST00000319653.9	+	2	1938	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	570					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGCCATGGGTCTTCTCCTTCC	0.502000													15	155					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17855836	17855836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:17855836G>A	ENST00000378814.5	-	6	325	c.326C>T	c.(325-327)tCc>tTc	p.S109F	KIF13A_ENST00000378816.5_Missense_Mutation_p.S109F|KIF13A_ENST00000378843.2_Missense_Mutation_p.S109F|KIF13A_ENST00000259711.6_Missense_Mutation_p.S109F|KIF13A_ENST00000378826.2_Missense_Mutation_p.S109F	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	109	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CATGGAAAAGGATTTTCCCGA	0.463000													6	45					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263768	140263768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140263768G>A	ENST00000289272.2	+	1	1915	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E639K|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCTGGACGAGGTGGACGC	0.682000													18	59					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72300940	72300940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:72300940G>A	ENST00000263563.6	+	16	2259	c.1991G>A	c.(1990-1992)gGc>gAc	p.G664D		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		TGCCTCAGCGGCCAGGGCCGT	0.607000													48	32					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23701585	23701585	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:23701585C>T	ENST00000397312.2	-	5	779	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	ELAVL2_ENST00000544538.1_Missense_Mutation_p.G169R|ELAVL2_ENST00000223951.6_Missense_Mutation_p.G169R|ELAVL2_ENST00000380110.4_Missense_Mutation_p.G198R|ELAVL2_ENST00000380117.1_Missense_Mutation_p.G169R	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	169	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G169W(2)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		CGAATAAACCCTACACCCCTT	0.433000													19	45					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74104737	74104737	+	Nonsense_Mutation	SNP	C	C	T	rs147467609	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74104737C>T	ENST00000370336.4	+	1	267	c.109C>T	c.(109-111)Cga>Tga	p.R37*	DDX43_ENST00000539829.1_Nonsense_Mutation_p.R37*|OOEP_ENST00000370363.1_5'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	37						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						GGAGTTGAATCGAACAGGTCC	0.657000													24	58					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37446810	37446810	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:37446810G>A	ENST00000379826.4	-	3	997	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S	SMAD9_ENST00000399275.2_Missense_Mutation_p.P219S|SMAD9_ENST00000350148.5_Missense_Mutation_p.P219S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	219					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TGTTGATAGGGACTCTCTGGC	0.532000													12	25					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672872	141672872	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141672872G>A	ENST00000547270.1	-	1	701	c.618C>T	c.(616-618)ttC>ttT	p.F206F		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	206					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					GAAACAATAGGAAAGGAGGCA	0.438000													14	34					0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44470763	44470763	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44470763T>C	ENST00000585916.1	-	2	278	c.279A>G	c.(277-279)gaA>gaG	p.E93E	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Silent_p.E93E	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	93					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						CCAAGTCAGGTTCTACAGGTG	0.468000													8	11					0	0	1	0	0
ALDH1L1	10840	broad.mit.edu	37	3	125876293	125876293	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:125876293G>A	ENST00000393434.2	-	4	770	c.421C>T	c.(421-423)Ctg>Ttg	p.L141L	ALDH1L1_ENST00000455064.2_5'UTR|ALDH1L1_ENST00000472186.1_Silent_p.L141L|ALDH1L1_ENST00000273450.3_Silent_p.L151L|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000393431.2_Silent_p.L141L	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	141	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	CCGGTGTCCAGACCATCATCC	0.562000													18	69					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105859317	105859317	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:105859317C>T	ENST00000258456.1	+	1	1118	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	334						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.A334A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCGCGAGGCCTGCATAGAGT	0.542000													14	60					0	0	1	0	0
C1QA	712	broad.mit.edu	37	1	22965364	22965364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:22965364G>A	ENST00000374642.3	+	3	406	c.202G>A	c.(202-204)Gga>Aga	p.G68R	C1QA_ENST00000402322.1_Missense_Mutation_p.G68R	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	68	Collagen-like.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGCCTTAAAGGAGACCAGGG	0.637000													5	6					0	0	1	0	0
RBM23	55147	broad.mit.edu	37	14	23375447	23375447	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23375447G>A	ENST00000359890.3	-	5	553	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	RBM23_ENST00000556984.1_5'UTR|RBM23_ENST00000555209.1_5'UTR|RBM23_ENST00000542016.2_5'UTR|RBM23_ENST00000346528.5_Missense_Mutation_p.R104C|RBM23_ENST00000399922.2_Missense_Mutation_p.R104C	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	120	Arg-rich.				mRNA processing	nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		CGATCCTCACGACGATGGTCC	0.488000													18	59					0	0	1	0	0
FIBIN	387758	broad.mit.edu	37	11	27016273	27016273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:27016273G>A	ENST00000318627.2	+	1	646	c.200G>A	c.(199-201)gGg>gAg	p.G67E		NM_203371.1	NP_976249.1	Q8TAL6	FIBIN_HUMAN	fin bud initiation factor homolog (zebrafish)	67						extracellular region|Golgi apparatus				breast(1)|endometrium(2)|lung(7)|upper_aerodigestive_tract(1)	11						TGCTCCCAGGGGGAGGGGAGC	0.667000													4	21					0	0	1	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906636	84906636	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:84906636C>T	ENST00000262424.5	+	10	1244	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	CRISPLD2_ENST00000564567.1_Silent_p.I340I|CRISPLD2_ENST00000567845.1_Silent_p.I339I	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	340	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						ACTACGGGATCCTGGATGACA	0.567000													69	10					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64515365	64515365	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:64515365T>C	ENST00000371079.1	+	3	541	c.166T>C	c.(166-168)Tct>Cct	p.S56P	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.S56P	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	56	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						GCTCACAGATTCTTACCTGAC	0.542000													47	8					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141752589	141752589	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141752589C>T	ENST00000475668.2	+	26	3018	c.2964C>T	c.(2962-2964)tcC>tcT	p.S988S	MGAM_ENST00000549489.2_Silent_p.S988S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	988	P-type 2.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTCAGGCATCCAATTCTTCTG	0.403000													57	43					0	0	1	0	0
HCP5	10866	broad.mit.edu	37	6	31431924	31431924	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31431924G>A	ENST00000414046.2	+	0	996					NR_040662.1		Q6MZN7	HCP5_HUMAN							defense response					urinary_tract(1)	1						tgaaggaatgggatatggagc	0.458000													10	22					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	41306627	41306627	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:41306627G>A	ENST00000373198.3	-	7	1267	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N	PTPRT_ENST00000373201.1_Silent_p.N344N|PTPRT_ENST00000356100.2_Silent_p.N344N|PTPRT_ENST00000373184.1_Silent_p.N344N|PTPRT_ENST00000373190.1_Silent_p.N344N|PTPRT_ENST00000373193.3_Silent_p.N344N|PTPRT_ENST00000373187.1_Silent_p.N344N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	344	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ACAGCTTATAGTTGGGAGAGT	0.592000													23	96					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232320840	232320840	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:232320840G>A	ENST00000322723.4	-	12	1953	c.1713C>T	c.(1711-1713)tcC>tcT	p.S571S		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	571					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		ACAGAGTTTTGGATGGCTCTG	0.438000													10	24					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179413974	179413974	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179413974G>A	ENST00000589042.1	-	339	92603	c.92379C>T	c.(92377-92379)ttC>ttT	p.F30793F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F28225F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.F21728F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.F21853F|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.F21920F|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.F29152F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29152	Fibronectin type-III 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATGACATGGAATTCATACT	0.453000													35	30					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294623	42294623	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:42294623G>A	ENST00000342228.3	-	8	1776	c.1407C>T	c.(1405-1407)gaC>gaT	p.D469D	SLC20A2_ENST00000520179.1_Silent_p.D469D|SLC20A2_ENST00000520262.1_Silent_p.D469D	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	469					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCTCTGCAGGGTCCTCTCGCG	0.647000													12	43					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90759093	90759093	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:90759093G>T	ENST00000354366.3	-	9	2022	c.1790C>A	c.(1789-1791)cCt>cAt	p.P597H	NRDE2_ENST00000357904.3_Missense_Mutation_p.P366H	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GGTCTTATCAGGGCGCCAGGG	0.597000													32	163					1.26612e-14	1.2778e-14	1	1	0
FAAH2	158584	broad.mit.edu	37	X	57405110	57405110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:57405110C>T	ENST00000374900.4	+	6	889	c.769C>T	c.(769-771)Ccc>Tcc	p.P257S		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	257						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						AGGTCAGTTTCCCTTGGCTGT	0.507000										HNSCC(52;0.14)			26	32					0	0	1	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68704546	68704546	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68704546G>A	ENST00000255078.3	+	13	2709	c.2598G>A	c.(2596-2598)aaG>aaA	p.K866K		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	866	Poly-Lys.			K -> T (in Ref. 6; AAA58611).	cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAAAGAAAAAGAAAAAAGCCA	0.572000													10	42					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1348913	1348913	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:1348913C>T	ENST00000389851.4	+	7	1503	c.1056C>T	c.(1054-1056)acC>acT	p.T352T	UVSSA_ENST00000511216.1_Silent_p.T352T|UVSSA_ENST00000507531.1_Silent_p.T352T	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	352																	AGCGCTTCACCCGCGTCGGGA	0.622000													9	11					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371798	55371798	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55371798C>T	ENST00000302231.4	-	1	76	c.52G>A	c.(52-54)Gat>Aat	p.D18N		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTCAAGGGATCCTGTGTTAAT	0.383000													12	46					0	0	1	0	0
TAOK3	51347	broad.mit.edu	37	12	118598041	118598041	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:118598041T>C	ENST00000392533.3	-	19	2752	c.2262A>G	c.(2260-2262)ttA>ttG	p.L754L	TAOK3_ENST00000419821.2_Silent_p.L754L|TAOK3_ENST00000537952.1_Silent_p.L294L|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	754					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAGTGTCTTTAAGATTGTTT	0.393000													27	106					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126143259	126143259	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:126143259C>T	ENST00000263578.5	+	4	520	c.446C>T	c.(445-447)cCc>cTc	p.P149L	FOXRED1_ENST00000532125.1_Missense_Mutation_p.P135L|FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000534011.1_3'UTR	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	149						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GATGCTCCTCCCCTGGACCTC	0.552000													21	40					0	0	1	0	0
MLPH	79083	broad.mit.edu	37	2	238449159	238449159	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238449159C>T	ENST00000264605.3	+	10	1567	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	MLPH_ENST00000338530.4_Missense_Mutation_p.P397S|MLPH_ENST00000445024.2_Missense_Mutation_p.P425S|MLPH_ENST00000409373.1_Missense_Mutation_p.P357S|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Missense_Mutation_p.P282S	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	425							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		TGGGCCTCTCCCCCAGGCGGA	0.632000													3	9					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9056254	9056254	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9056254C>T	ENST00000397910.4	-	3	31395	c.31192G>A	c.(31192-31194)Gat>Aat	p.D10398N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10400	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATTCTGGTATCCAAAATGGGT	0.493000													48	140					0	0	1	0	0
HAGH	3029	broad.mit.edu	37	16	1859392	1859392	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1859392G>A	ENST00000566709.1	-	9	1023	c.739C>T	c.(739-741)Cct>Tct	p.P247S	HAGH_ENST00000397353.2_Intron|HAGH_ENST00000567398.1_Intron|HAGH_ENST00000397356.3_Intron|HAGH_ENST00000455446.2_Intron			Q16775	GLO2_HUMAN	hydroxyacylglutathione hydrolase	0					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CCCTGCGGAGGCCAGCACCGG	0.701000													15	30					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21484001	21484001	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:21484001G>A	ENST00000313654.9	+	50	6664	c.6423G>A	c.(6421-6423)gaG>gaA	p.E2141E	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.E476E|LAMA3_ENST00000399516.3_Silent_p.E2085E|LAMA3_ENST00000269217.6_Silent_p.E532E	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2141	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTGGAGGAGGCAGAAAAGC	0.498000													12	38					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6428719	6428719	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:6428719G>A	ENST00000262483.8	-	3	270	c.183C>T	c.(181-183)ctC>ctT	p.L61L	ACKR6_ENST00000421306.3_Intron	NM_031220.3	NP_112497.2																					TCTGCTCCACGAGGTCATTGG	0.557000													58	71					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117693741	117693741	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117693741C>T	ENST00000338101.4	-	16	2637	c.2633_splice	c.e16+1	p.R878_splice	NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron			P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	844	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CACACTCTACCTGTGCTGGCT	0.577000													56	60					0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1080683	1080683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1080683G>A	ENST00000313093.2	+	16	2146	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	HMHA1_ENST00000590214.1_Missense_Mutation_p.D666N|HMHA1_ENST00000536472.1_Missense_Mutation_p.D507N|HMHA1_ENST00000590577.1_Missense_Mutation_p.D274N|HMHA1_ENST00000543365.1_Missense_Mutation_p.D522N|HMHA1_ENST00000586866.1_Missense_Mutation_p.D643N|HMHA1_ENST00000539243.2_Missense_Mutation_p.D655N	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	639					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGCCCAGGGGACTTTAAGAA	0.632000													17	22					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49230093	49230093	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49230093C>T	ENST00000222145.4	-	8	2280	c.2076G>A	c.(2074-2076)ctG>ctA	p.L692L		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	692	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TGACCTCATCCAGGAGGGCCA	0.517000													18	78					0	0	1	0	0
IGFN1	91156	broad.mit.edu	37	1	201184907	201184907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201184907G>A	ENST00000335211.4	+	15	9366	c.9236G>A	c.(9235-9237)aGc>aAc	p.S3079N	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_Missense_Mutation_p.S239N	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGCCAGTACAGCGTGACACTG	0.642000													20	17					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484311	87484311	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:87484311G>A	ENST00000327946.7	-	11	1741	c.1656C>T	c.(1654-1656)atC>atT	p.I552I	GRID1_ENST00000536331.1_Silent_p.I123I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	552						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGAAGATGCTGATTTTCTCCT	0.502000										Multiple Myeloma(13;0.14)			15	38					0	0	1	0	0
DICER1	23405	broad.mit.edu	37	14	95562608	95562608	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:95562608G>A	ENST00000526495.1	-	25	4940	c.4649C>T	c.(4648-4650)aCt>aTt	p.T1550I	DICER1_ENST00000527414.1_Missense_Mutation_p.T1550I|DICER1_ENST00000393063.1_Missense_Mutation_p.T1550I|DICER1_ENST00000556045.1_Missense_Mutation_p.T448I|DICER1_ENST00000541352.1_Missense_Mutation_p.T1550I|DICER1_ENST00000343455.3_Missense_Mutation_p.T1550I			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1550					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		ACACTGCTCAGTGTGCAAGTC	0.502000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				20	71					0	0	1	0	0
TAAR2	9287	broad.mit.edu	37	6	132938576	132938576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:132938576C>T	ENST00000275191.2	-	1	741	c.634G>A	c.(634-636)Gac>Aac	p.D212N	TAAR2_ENST00000367931.1_Missense_Mutation_p.D257N|TAAR2_ENST00000537809.1_Missense_Mutation_p.D212N	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	257						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		GCTTTTTTGTCTTTCTTCACT	0.328000													7	9					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	103988288	103988288	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:103988288G>A	ENST00000388887.2	+	3	535	c.331_splice	c.e3+1	p.E111_splice		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	111	EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGACTGTATAGGTAAGTGGCA	0.463000													42	10					0	0	1	0	0
SNORD114-2	767578	broad.mit.edu	37	14	101418202	101418202	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:101418202G>A	ENST00000363953.1	+	0	10					NR_003194.1																						TGGGACCAATGATAATGACTG	0.328000													23	61					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7402425	7402425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7402425C>T	ENST00000322644.6	+	9	1802	c.1403C>T	c.(1402-1404)tCc>tTc	p.S468F	POLR2A_ENST00000572844.1_Missense_Mutation_p.S468F	NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	468					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CACAAAATGTCCATGATGGGG	0.532000													50	125					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161536254	161536254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:161536254G>A	ENST00000392142.4	+	26	4874	c.4726G>A	c.(4726-4728)Gac>Aac	p.D1576N	MAP3K4_ENST00000366920.2_Missense_Mutation_p.D1572N|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D1526N|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D1522N	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1576	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGAAGGAAAGGACTTCCTTTC	0.473000													7	25					0	0	1	0	0
ADAD1	132612	broad.mit.edu	37	4	123336679	123336679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:123336679G>A	ENST00000296513.2	+	11	1580	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	ADAD1_ENST00000388724.2_Missense_Mutation_p.M454I|ADAD1_ENST00000388725.2_Missense_Mutation_p.M447I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	465	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	p.M465I(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCCTTCAAATGAACTTGGAAT	0.388000													50	111					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238258824	238258824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238258824C>T	ENST00000295550.4	-	28	7297	c.6845G>A	c.(6844-6846)gGa>gAa	p.G2282E	COL6A3_ENST00000353578.4_Missense_Mutation_p.G2076E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G2076E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G2081E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G2082E|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1675E	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2282	Collagen-like 4.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCGATTCCTCCTTTTGGTCC	0.607000													8	32					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262588	128262588	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128262588G>A	ENST00000295321.4	-	3	1150	c.891C>T	c.(889-891)ccC>ccT	p.P297P	IWS1_ENST00000455721.2_Silent_p.P304P|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	297	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CACTGACTCGGGGTTTGGGTA	0.532000													43	123					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113299474	113299474	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:113299474C>T	ENST00000264852.4	+	5	1307	c.581C>T	c.(580-582)cCc>cTc	p.P194L	SIDT1_ENST00000393830.3_Missense_Mutation_p.P194L	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	194						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TACAAGTTTCCCAAAGACGTG	0.338000													21	69					0	0	1	0	0
RPS6KA6	27330	broad.mit.edu	37	X	83319409	83319409	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:83319409C>T	ENST00000262752.2	-	22	2121	c.2112_splice	c.e22-1	p.G705_splice	RPS6KA6_ENST00000543399.1_Splice_Site_p.G705_splice	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	705					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						AACCATTGCTCCCTAAAGTAA	0.393000													11	0					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6007026	6007026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6007026G>A	ENST00000303657.5	-	12	1548	c.1399C>T	c.(1399-1401)Ccc>Tcc	p.P467S	RFX2_ENST00000592546.1_Missense_Mutation_p.P442S|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000359161.3_Missense_Mutation_p.P467S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CACTTACTGGGGACCGGCCTC	0.617000													15	29					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11445951	11445951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:11445951C>T	ENST00000423059.3	-	22	4464	c.4213G>A	c.(4213-4215)Gaa>Aaa	p.E1405K	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	1405	TSP type-1 14.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CTGCAGGATTCCTCCAGAACC	0.423000										HNSCC(18;0.044)			78	117					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20698150	20698150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20698150G>A	ENST00000404938.2	+	14	2210	c.1558G>A	c.(1558-1560)Gaa>Aaa	p.E520K	ABCB5_ENST00000258738.6_Missense_Mutation_p.E75K|ABCB5_ENST00000443026.2_Missense_Mutation_p.E75K|ABCB5_ENST00000406935.1_Missense_Mutation_p.E75K	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	75	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATTGGTAGGGGAAAAAGGAGC	0.418000													49	13					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433392	10433392	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10433392C>T	ENST00000245503.5	-	23	3082		c.e23-1		MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Splice_Site|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult						muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						CTTCGGCTTCCTTAAGTTGGA	0.388000													22	74					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152086421	152086421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152086421G>A	ENST00000368804.1	-	1	135	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	46	EF-hand 1.|S-100-like.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCTTACCCGAAGCACAGCT	0.378000													51	71					0	0	1	0	0
BNC2	54796	broad.mit.edu	37	9	16436260	16436260	+	Silent	SNP	C	C	T	rs144681255		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:16436260C>T	ENST00000380672.4	-	6	1989	c.1932G>A	c.(1930-1932)aaG>aaA	p.K644K	BNC2_ENST00000545497.1_Silent_p.K549K|BNC2_ENST00000380667.2_Silent_p.K577K|BNC2_ENST00000380666.2_Silent_p.K644K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	644					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAATAATTTCCTTCTCAATCT	0.488000													27	30					0	0	1	0	0
RAP1GAP	5909	broad.mit.edu	37	1	21934823	21934823	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:21934823G>A	ENST00000542643.2	-	18	1481	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L	RAP1GAP_ENST00000374765.4_Silent_p.L393L|RAP1GAP_ENST00000374763.2_Silent_p.L393L|RAP1GAP_ENST00000374761.2_Silent_p.L424L|RAP1GAP_ENST00000290101.4_Silent_p.L457L	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	393	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		GCGTCTCCAGGAGGGCGGCCC	0.657000													15	36					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234444858	234444858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:234444858G>A	ENST00000366618.3	+	4	765	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	SLC35F3_ENST00000366617.3_Missense_Mutation_p.R138Q	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	138					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GAATGCTGTCGATTTTTTGGA	0.383000													12	87					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105408158	105408158	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105408158C>T	ENST00000333244.5	-	7	13749	c.13630G>A	c.(13630-13632)Ggg>Agg	p.G4544R	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4544						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGCAGGTGCCCTTTGAGGCCG	0.632000													40	170					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103018150	103018150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103018150C>T	ENST00000306312.3	-	18	2143	c.1882G>A	c.(1882-1884)Gaa>Aaa	p.E628K	SLC26A5_ENST00000339444.6_Missense_Mutation_p.E628K|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E596K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E598K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E591K|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.E61K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E596K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E630K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	628	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CTTTGCATTTCCTCAGGAAAT	0.423000													61	38					0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56651670	56651670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56651670C>T	ENST00000336078.4	+	11	4654	c.3878C>T	c.(3877-3879)tCc>tTc	p.S1293F	ZNF532_ENST00000591808.1_Missense_Mutation_p.S1293F|ZNF532_ENST00000591230.1_Missense_Mutation_p.S1293F|ZNF532_ENST00000589288.1_Missense_Mutation_p.S1293F|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591083.1_Missense_Mutation_p.S1293F	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TTCATCAAATCCAAAAGGATG	0.433000													16	10					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809378	18809378	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:18809378G>A	ENST00000400664.1	+	1	1955	c.1903G>A	c.(1903-1905)Gaa>Aaa	p.E635K		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	635						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GCGTGCCAAGGAAATCTTCGT	0.711000													15	10					0	0	1	0	0
CPLX3	594855	broad.mit.edu	37	15	75122526	75122526	+	Missense_Mutation	SNP	G	G	A	rs144213956		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75122526G>A	ENST00000395018.4	+	3	465	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	103						cell junction|synapse	syntaxin binding			large_intestine(2)|lung(2)	4						GAGCTGCCCCGGGAGCTGGCC	0.617000													27	31					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754406	31754406	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31754406G>A	ENST00000405650.1	-	0	834				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGCCCAAGGAAACAAAGTG	0.473000													11	36					0	0	1	0	0
LIN28A	79727	broad.mit.edu	37	1	26752948	26752948	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:26752948G>A	ENST00000326279.6	+	4	743	c.629G>A	c.(628-630)tGa>tAa	p.*210*	LIN28A_ENST00000254231.4_Silent_p.*210*	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	0					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GCACAGAATTGAGCCACAATG	0.542000													5	28					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130415673	130415673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:130415673G>A	ENST00000370904.1	-	14	2375	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	IGSF1_ENST00000370903.3_Missense_Mutation_p.R498C|IGSF1_ENST00000370910.1_Missense_Mutation_p.R489C|IGSF1_ENST00000361420.3_Missense_Mutation_p.R498C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	498	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGCTCACTGCGATGTGACCAG	0.527000													18	26					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10370002	10370002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10370002C>T	ENST00000255381.2	-	3	171	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	21	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGCTCCTTTTCAGACTTTCGG	0.483000													74	37					0	0	1	0	0
GLI2	2736	broad.mit.edu	37	2	121747145	121747145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:121747145G>A	ENST00000452319.1	+	14	3715	c.3655G>A	c.(3655-3657)Gta>Ata	p.V1219I	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.V1219I			P10070	GLI2_HUMAN	GLI family zinc finger 2	1219					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CATCCCCAGGGTAAACTACAT	0.657000													4	9					0	0	1	0	0
IGHV1-46	28465	broad.mit.edu	37	14	106967482	106967482	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106967482C>T	ENST00000390622.2	-	0	306																											AGGTCCAGTCCATGGTGAAGA	0.498000													41	33					0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058190	152058190	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152058190C>T	ENST00000368806.1	-	3	2032	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	656							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGTGGATTCCTGTGCTTCTG	0.537000													94	121					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81102314	81102314	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:81102314G>A	ENST00000228641.3	+	2	753	c.531G>A	c.(529-531)gcG>gcA	p.A177A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	177					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTGAGGGTGCGGATTTCCTGC	0.582000													27	88					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569877	52569877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52569877G>A	ENST00000389534.4	-	7	1717	c.1258C>T	c.(1258-1260)Cat>Tat	p.H420Y	ZNF841_ENST00000359973.2_Missense_Mutation_p.H304Y|ZNF841_ENST00000594295.1_Missense_Mutation_p.H420Y|ZNF841_ENST00000426391.2_Missense_Mutation_p.H304Y|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGGATTATATGATGTGCAGTG	0.393000													5	7					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20766725	20766725	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20766725C>T	ENST00000404938.2	+	22	3340	c.2688C>T	c.(2686-2688)ttC>ttT	p.F896F	ABCB5_ENST00000258738.6_Silent_p.F451F	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	451					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAAAAGCCTTCGAGCAAATGT	0.323000													21	50					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212812235	212812235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:212812235C>T	ENST00000342788.4	-	3	651	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	ERBB4_ENST00000402597.1_Missense_Mutation_p.R114Q|ERBB4_ENST00000436443.1_Missense_Mutation_p.R114Q|ERBB4_ENST00000484474.1_5'UTR	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	114					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CAAGGCATATCGATCCTCATA	0.378000										TSP Lung(8;0.080)			12	25					0	0	1	0	0
PCP4L1	654790	broad.mit.edu	37	1	161254249	161254249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161254249G>A	ENST00000504449.1	+	3	433	c.185G>A	c.(184-186)aGg>aAg	p.R62K		NM_001102566.1	NP_001096036.1	A6NKN8	PC4L1_HUMAN	Purkinje cell protein 4 like 1	62	IQ.									endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TTTCAGAAAAGGAAAAAGGAT	0.522000													25	49					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834455	61834455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61834455C>T	ENST00000280772.1	-	37	6375	c.6184G>A	c.(6184-6186)Gag>Aag	p.E2062K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2062				ER -> GG (in Ref. 1; AAA64834).	establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTGTCTCTCCTCACCATCC	0.383000													23	56					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32041572	32041572	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32041572C>T	ENST00000375244.3	-	12	4734	c.4533G>A	c.(4531-4533)aaG>aaA	p.K1511K	TNXB_ENST00000375247.2_Silent_p.K1511K			P22105	TENX_HUMAN	tenascin XB	1598	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCCGTCCTTGTCCTTGT	0.567000													108	450					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52425239	52425239	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52425239C>T	ENST00000420323.2	+	62	10047	c.9786C>T	c.(9784-9786)gaC>gaT	p.D3262D		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3327	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GTGACCGCGACTTCCTGCGCA	0.592000													6	18					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754297	49754297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49754297C>T	ENST00000304801.3	-	1	756	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	202					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					ACTGGGTTTTCCAAGGCTTTA	0.448000													13	90					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18576937	18576937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18576937C>T	ENST00000433979.1	+	17	2461	c.2345C>T	c.(2344-2346)tCc>tTc	p.S782F	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S782F|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S823F	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	782					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTCCACCGCTCCTTGCAGAGC	0.428000													3	19					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228239	142228239	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:142228239G>A	ENST00000519067.1	-	4	1650	c.1347C>T	c.(1345-1347)tcC>tcT	p.S449S	SLC45A4_ENST00000024061.3_Silent_p.S449S|SLC45A4_ENST00000433583.2_Silent_p.S442S|SLC45A4_ENST00000517878.1_Silent_p.S500S			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	500					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TCTTCAGCATGGAGAGCCACA	0.662000													6	31					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39491250	39491250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:39491250C>T	ENST00000518318.2	+	8	1394	c.1352C>T	c.(1351-1353)tCc>tTc	p.S451F	POU6F2_ENST00000403058.1_Missense_Mutation_p.S451F|POU6F2_ENST00000559001.1_Missense_Mutation_p.S396F			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	451	Ser-rich.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tcctcttcttcctcctcatcc	0.547000													8	22					0	0	1	0	0
SLC17A2	10246	broad.mit.edu	37	6	25926017	25926017	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:25926017C>T	ENST00000377850.3	-	2	532	c.8G>A	c.(7-9)gGg>gAg	p.G3E	SLC17A2_ENST00000360488.3_Missense_Mutation_p.G3E|SLC17A2_ENST00000265425.3_Missense_Mutation_p.G3E			O00624	NPT3_HUMAN	solute carrier family 17, member 2	3					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GGCAGGCTTCCCGTCCATTTA	0.458000													42	237					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066251	23066251	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23066251C>T	ENST00000246006.4	-	1	726	c.579G>A	c.(577-579)ctG>ctA	p.L193L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	193					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGGCCCCCCAGGGCCAGAG	0.642000													15	72					0	0	1	0	0
LRFN1	57622	broad.mit.edu	37	19	39804945	39804945	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39804945G>A	ENST00000248668.4	-	1	1031	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	344	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GGGTCCGGCTGGAGTTCCCCA	0.687000													8	9					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81660637	81660637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:81660637C>T	ENST00000558726.1	-	3	404	c.269G>A	c.(268-270)gGg>gAg	p.G90E	TMC3_ENST00000359440.5_Missense_Mutation_p.G90E			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	90						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGTCAGCCTCCCTTCAAACTT	0.473000													66	113					0	0	1	0	0
MPP7	143098	broad.mit.edu	37	10	28491141	28491141	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:28491141C>T	ENST00000337532.5	-	4	373	c.97G>A	c.(97-99)Gaa>Aaa	p.E33K	MPP7_ENST00000540098.1_Missense_Mutation_p.E33K|MPP7_ENST00000375732.1_Missense_Mutation_p.E33K|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.E33K|MPP7_ENST00000445954.2_Intron	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	33	L27 1.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTCAGGTCTTCCTGGCTATCC	0.433000													14	51					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50599144	50599144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50599144G>A	ENST00000262794.5	+	25	3435	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	MOV10L1_ENST00000395858.3_Intron|MOV10L1_ENST00000395852.1_Missense_Mutation_p.D245N|MOV10L1_ENST00000545383.1_Missense_Mutation_p.D1118N|MOV10L1_ENST00000540615.1_Missense_Mutation_p.D1098N	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1118					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TAGATTTGAAGATGATCGATA	0.383000													18	26					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697230	169697230	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169697230C>T	ENST00000333360.7	-	8	1387	c.1248G>A	c.(1246-1248)ggG>ggA	p.G416G	SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367776.1_Intron|SELE_ENST00000367782.4_Silent_p.G416G|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367777.1_Silent_p.G416G	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	416	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGTCCCACTCCCCTGTGGGGC	0.458000													41	143					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25451216	25451216	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:25451216C>T	ENST00000424208.1	+	0	2384				SNHG14_ENST00000424333.1_RNA	NR_003305.1																						GACCCATCTTCCAGCTATCTC	0.622000													3	9					0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35308323	35308323	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:35308323C>T	ENST00000278379.3	-	8	1549	c.1267G>A	c.(1267-1269)Gga>Aga	p.G423R	SLC1A2_ENST00000395750.1_Missense_Mutation_p.G414R|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G414R|SLC1A2_ENST00000606205.1_Missense_Mutation_p.G423R|SLC1A2_ENST00000479543.1_5'UTR	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	423					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ACAATCTGTCCTCCATCCAGG	0.488000													38	88					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86028341	86028341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:86028341C>T	ENST00000407528.2	+	8	1033	c.971C>T	c.(970-972)aCt>aTt	p.T324I	CADM2_ENST00000405615.2_Missense_Mutation_p.T326I|CADM2_ENST00000383699.3_Intron	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	324	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTTCCCACTACTATCATCCCC	0.408000													37	118					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515755	51515755	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51515755C>T	ENST00000328188.1	+	1	474	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCATACAGATCCTCTTCATCT	0.468000													45	69					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32018087	32018087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32018087C>T	ENST00000375244.3	-	27	9328	c.9127G>A	c.(9127-9129)Gaa>Aaa	p.E3043K	TNXB_ENST00000375247.2_Missense_Mutation_p.E3041K			P22105	TENX_HUMAN	tenascin XB	3088	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCTCGGCTTCATCCTTTGGA	0.582000													127	575					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557699	170557699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170557699C>T	ENST00000359744.3	+	4	606	c.218C>T	c.(217-219)cCt>cTt	p.P73L	KLHL23_ENST00000272797.4_Intron|KLHL23_ENST00000602521.1_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	73							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						ACATCATTGCCTTTCACTCCA	0.353000													21	37					0	0	1	0	0
USP49	25862	broad.mit.edu	37	6	41766657	41766657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:41766657G>A	ENST00000394253.3	-	6	2010	c.1681C>T	c.(1681-1683)Cgt>Tgt	p.R561C	USP49_ENST00000297229.2_Missense_Mutation_p.R561C|USP49_ENST00000373009.3_Missense_Mutation_p.R561C|USP49_ENST00000373010.1_Missense_Mutation_p.R561C|USP49_ENST00000373006.1_Missense_Mutation_p.R561C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	561					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CGATGATTACGGCCAGACCAC	0.418000													12	61					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82451976	82451976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82451976G>A	ENST00000423517.2	-	20	14963	c.14626C>T	c.(14626-14628)Cat>Tat	p.H4876Y	PCLO_ENST00000333891.8_Missense_Mutation_p.H4876Y|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4738					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGACTACTATGGGATTTCTCA	0.458000													142	138					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101062675	101062675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101062675G>A	ENST00000394095.2	-	14	2014	c.1961C>T	c.(1960-1962)cCg>cTg	p.P654L	SENP7_ENST00000358203.3_Missense_Mutation_p.P490L|SENP7_ENST00000314261.7_Missense_Mutation_p.P588L|SENP7_ENST00000348610.3_Missense_Mutation_p.P621L|SENP7_ENST00000394091.1_Missense_Mutation_p.P490L|SENP7_ENST00000394094.2_Missense_Mutation_p.P589L	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	654					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAAGACAACGGGTAAGAAAG	0.353000													8	31					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468403	86468403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86468403G>A	ENST00000361669.2	+	4	2672	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	GRM3_ENST00000536043.1_Missense_Mutation_p.D397N|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.D117N	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	525					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCAACCAGGGGATGTCTGCTG	0.537000													39	124					0	0	1	0	0
AC005863.1	0	broad.mit.edu	37	17	14683204	14683204	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:14683204G>A	ENST00000379640.1	-	0	316																											CAGCCAAGTAGGATAAGAACA	0.478000													37	60					0	0	1	0	0
SMAD9	4093	broad.mit.edu	37	13	37427646	37427646	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:37427646G>A	ENST00000379826.4	-	6	1512	c.1170C>T	c.(1168-1170)ttC>ttT	p.F390F	SMAD9_ENST00000399275.2_Silent_p.F390F|SMAD9_ENST00000350148.5_Silent_p.F353F	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	390	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GGAGCTGAGCGAAGAGCTGGT	0.532000													12	32					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53014261	53014261	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53014261G>A	ENST00000421239.2	+	6	871	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ATAACTATGGGAATAATTTTT	0.358000													18	66					0	0	1	0	0
FLI1	2313	broad.mit.edu	37	11	128628127	128628127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:128628127C>T	ENST00000344954.6	+	2	425	c.37C>T	c.(37-39)Cac>Tac	p.H13Y	FLI1_ENST00000534087.1_Missense_Mutation_p.H13Y|FLI1_ENST00000429175.2_Missense_Mutation_p.H46Y|FLI1_ENST00000525560.1_5'UTR|FLI1_ENST00000527767.2_3'UTR			Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor	46					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGGGCAGCCCCACAAGATCAA	0.602000			T	EWSR1	Ewing sarcoma								9	0					0	0	1	0	0
KLRK1	22914	broad.mit.edu	37	12	10531209	10531209	+	Missense_Mutation	SNP	C	C	T	rs147568901		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10531209C>T	ENST00000240618.6	-	6	513	c.373G>A	c.(373-375)Gct>Act	p.A125T	KLRC4-KLRK1_ENST00000539300.1_3'UTR|RP11-277P12.20_ENST00000500682.1_RNA|KLRK1_ENST00000540818.1_Missense_Mutation_p.A125T	NM_001199805.1|NM_007360.3	NP_001186734.1|NP_031386.2	P26718	NKG2D_HUMAN	killer cell lectin-like receptor subfamily K, member 1	125	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						ATACAAGAAGCCTGGCTCTCA	0.368000													26	22					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17084422	17084422	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:17084422C>T	ENST00000418129.2	+	4	3162	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	PLCL2_ENST00000396755.2_Silent_p.I899I|PLCL2-AS1_ENST00000414844.2_RNA|PLCL2_ENST00000432376.1_Silent_p.I899I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1025					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATGAAAAGATCGTACATTGTC	0.368000													23	68					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864629	13864629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13864629C>T	ENST00000265104.4	-	28	4577	c.4473G>A	c.(4471-4473)atG>atA	p.M1491I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1491	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCGCTCCATCATGGCTTTAC	0.502000									Kartagener syndrome				11	37					0	0	1	0	0
C17orf53	78995	broad.mit.edu	37	17	42226357	42226357	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42226357C>T	ENST00000319977.4	+	3	1423	c.1186C>T	c.(1186-1188)Cgc>Tgc	p.R396C	C17orf53_ENST00000585683.1_Missense_Mutation_p.R396C|C17orf53_ENST00000245382.6_Missense_Mutation_p.R396C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	396										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCCAAAACTCGCCGTTTCCC	0.612000													14	58					0	0	1	0	0
SPATC1	375686	broad.mit.edu	37	8	145095470	145095470	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:145095470C>T	ENST00000377470.3	+	3	870	c.766_splice	c.e3-1	p.V256_splice	SPATC1_ENST00000447830.2_Splice_Site_p.V256_splice	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	256										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATCACTAGTCCCACTCTCCA	0.617000													6	38					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26435379	26435379	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:26435379G>A	ENST00000457468.2	-	9	911	c.774C>T	c.(772-774)tcC>tcT	p.S258S	HADHA_ENST00000380649.3_Intron			P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	0					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TTTATACAGAGGATTGGATCT	0.328000													9	30					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105789577	105789577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:105789577G>A	ENST00000393127.2	+	11	1855	c.1409G>A	c.(1408-1410)gGa>gAa	p.G470E	GRIA4_ENST00000530497.1_Missense_Mutation_p.G470E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G470E|GRIA4_ENST00000282499.5_Missense_Mutation_p.G470E	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	470					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.G470E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GTCCCTGATGGAAAATATGGA	0.353000													15	2					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158064987	158064987	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:158064987C>T	ENST00000264428.4	+	8	1050	c.780C>T	c.(778-780)ttC>ttT	p.F260F	GLRB_ENST00000509282.1_Silent_p.F260F|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Silent_p.F260F	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	260					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AAGTCATCTTCACCCTGAGGA	0.502000													14	22					0	0	1	0	0
NBEAL1	65065	broad.mit.edu	37	2	203991366	203991366	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:203991366C>T	ENST00000449802.1	+	21	3318	c.2985C>T	c.(2983-2985)ctC>ctT	p.L995L		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	995							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATATGCAGCTCCTGCAACAAA	0.383000													92	204					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25492404	25492404	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:25492404C>T	ENST00000453082.2	+	0	2865					NR_003343.1																						TCGGGCCCTTCCTCGCGCCCT	0.612000													35	32					0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44328958	44328958	+	Silent	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:44328958G>C	ENST00000216180.3	+	4	860	c.687G>C	c.(685-687)ccG>ccC	p.P229P	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Silent_p.P225P	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	229					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				TTGTCCCCCCGGATCTCAAGG	0.537000													37	28					0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191536	66191536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66191536G>A	ENST00000311034.2	+	7	1351	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	392					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAGCTTCCCCGACCCTCCAAA	0.547000													79	94					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54450050	54450050	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:54450050C>T	ENST00000566473.2	+	6	654	c.654C>T	c.(652-654)gtC>gtT	p.V218V	ANKFN1_ENST00000318698.2_Silent_p.V218V			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	218										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ACACACTGGTCCAGGAAGCCC	0.493000													78	62					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7143015	7143015	+	Missense_Mutation	SNP	G	G	A	rs145643501		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7143015G>A	ENST00000341500.5	-	11	2357	c.2318C>T	c.(2317-2319)tCg>tTg	p.S773L	INSR_ENST00000302850.5_Missense_Mutation_p.S785L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	785	Fibronectin type-III 2.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CACGCTGGTCGAGGAAGTGTT	0.602000													91	130					0	0	1	0	0
GPR78	27201	broad.mit.edu	37	4	8583242	8583242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8583242C>T	ENST00000382487.4	+	1	950	c.533C>T	c.(532-534)gCc>gTc	p.A178V	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	178					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						ACGCTCCATGCCGTGGGCTTC	0.697000													5	6					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213294	21213294	+	Silent	SNP	C	C	T	rs143012218	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21213294C>T	ENST00000574002.1	-	13	1820	c.1338G>A	c.(1336-1338)acG>acA	p.T446T	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.T446T|ZP2_ENST00000574091.1_Silent_p.T446T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	446	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GAGGAAAATCCGTCCAGAGAG	0.358000													25	32					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36370325	36370325	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36370325C>T	ENST00000221891.4	+	17	2130	c.1938C>T	c.(1936-1938)ttC>ttT	p.F646F	APLP1_ENST00000537454.2_Silent_p.F606F|APLP1_ENST00000586861.1_Silent_p.F639F	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	645					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTTACCGCTTCCTGGAGGAAC	0.667000													41	62					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114186110	114186110	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:114186110G>A	ENST00000297405.5	-	4	794	c.550C>T	c.(550-552)Cca>Tca	p.P184S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P144S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P184S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P184S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	184	Sushi 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCTTTGGGTGGAACACCAGGA	0.423000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			50	23					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286802	55286802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55286802C>T	ENST00000336077.6	+	4	596	c.556C>T	c.(556-558)Cct>Tct	p.P186S	KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.P186S|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	186	Ig-like C2-type 2.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGCTGACTTTCCTCTGGGCCC	0.562000													44	62					0	0	1	0	0
PTX4	390667	broad.mit.edu	37	16	1535945	1535945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1535945G>A	ENST00000447419.2	-	3	1457	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	PTX4_ENST00000293922.1_Missense_Mutation_p.P473S|PTX4_ENST00000440447.2_3'UTR			Q96A99	PTX4_HUMAN	pentraxin 4, long	478						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CGGCCTCAGGGACAGCGTTCC	0.657000													6	12					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952185	141952185	+	Silent	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141952185A>T	ENST00000552471.1	-	5	901	c.582T>A	c.(580-582)gtT>gtA	p.V194V	PRSS58_ENST00000547058.2_Silent_p.V194V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	194	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						GGGCAGCAGAAACTTCCTGCC	0.408000													19	23					0	0	1	0	0
C1orf105	92346	broad.mit.edu	37	1	172417669	172417669	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:172417669A>T	ENST00000367727.4	+	3	394	c.196A>T	c.(196-198)Aag>Tag	p.K66*		NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	66										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TGTTTTATCTAAGGTACTAAA	0.343000													42	48					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117299146	117299146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:117299146C>T	ENST00000321322.6	-	33	6241	c.6240G>A	c.(6238-6240)atG>atA	p.M2080I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.M1810I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	2020					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGAGCCCCCCATTTTGGTGT	0.706000													6	10					0	0	1	0	0
ARSA	410	broad.mit.edu	37	22	51063801	51063801	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:51063801G>A	ENST00000547307.1	-	8	1701	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	ARSA_ENST00000395621.3_Silent_p.S434S|ARSA_ENST00000216124.5_Silent_p.S434S|ARSA_ENST00000453344.2_Silent_p.S348S|ARSA_ENST00000547805.1_Silent_p.S432S|ARSA_ENST00000356098.5_Silent_p.S434S|ARSA_ENST00000395619.3_Silent_p.S434S			P15289	ARSA_HUMAN	arylsulfatase A	432						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CAGGGTCCTTGGACAGGTCAT	0.637000													38	98					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31655934	31655934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:31655934C>T	ENST00000331728.4	+	5	536	c.422C>T	c.(421-423)tCt>tTt	p.S141F	LIMK2_ENST00000406516.1_Missense_Mutation_p.S63F|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Missense_Mutation_p.S120F|LIMK2_ENST00000340552.4_Missense_Mutation_p.S120F	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	141						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TCCACAGAGTCTGTTCAGGAG	0.607000													21	51					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168100393G>A	ENST00000409195.1	+	9	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATTGAAAAGGAAAAAATAAT	0.388000													15	56					0	0	1	0	0
C15orf38	348110	broad.mit.edu	37	15	90447118	90447118	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90447118G>A	ENST00000357484.5	-	4	519	c.399C>T	c.(397-399)acC>acT	p.T133T	C15orf38-AP3S2_ENST00000398333.3_Silent_p.T133T|C15orf38_ENST00000460685.1_Silent_p.T37T	NM_182616.2	NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			TGTGGTCGGGGGTGAGGCTCT	0.652000													33	47					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572698	38572698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38572698C>T	ENST00000222345.6	+	3	1002	c.493C>T	c.(493-495)Ccc>Tcc	p.P165S		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	165					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCCTTCCTCCCCCTTCGGCA	0.711000													31	36					0	0	1	0	0
OLAH	55301	broad.mit.edu	37	10	15115175	15115175	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:15115175A>T	ENST00000378217.3	+	9	1091	c.904A>T	c.(904-906)Atc>Ttc	p.I302F	OLAH_ENST00000485251.1_3'UTR|OLAH_ENST00000378228.3_Missense_Mutation_p.I249F	NM_018324.2	NP_060794.1	Q9NV23	SAST_HUMAN	oleoyl-ACP hydrolase	249					fatty acid biosynthetic process		myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity			endometrium(2)|large_intestine(1)|lung(14)|stomach(1)	18						CGAGAAATTAATCAAGAACTA	0.328000													15	40					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103162527	103162527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103162527C>T	ENST00000428762.1	-	48	7769	c.7610G>A	c.(7609-7611)gGg>gAg	p.G2537E	RELN_ENST00000343529.5_Missense_Mutation_p.G2537E|RELN_ENST00000424685.2_Missense_Mutation_p.G2537E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2537					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTCAATTTCCCTCCGTTCAC	0.517000													48	38					0	0	1	0	0
OR52A4P	390053	broad.mit.edu	37	11	5142675	5142675	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5142675C>T	ENST00000498233.1	-	0	723																				breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TAGAGAATTTCCAATCAGAGC	0.433000													26	67					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49190511	49190511	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:49190511G>A	ENST00000406846.2	-	10	1568	c.1449C>T	c.(1447-1449)ctC>ctT	p.L483L	FSHR_ENST00000541117.1_Silent_p.L219L|FSHR_ENST00000346173.3_Silent_p.L421L|FSHR_ENST00000304421.4_Silent_p.L457L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	483					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAGCATGGCGGAGCTGCACCT	0.522000									Gonadal Dysgenesis, 46 XX				31	11					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51512900	51512900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:51512900G>A	ENST00000371117.3	-	63	11602	c.11327C>T	c.(11326-11328)tCc>tTc	p.S3776F		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3776					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGTCCCAGGGACTCTACTCT	0.413000													79	63					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140772573	140772573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140772573C>T	ENST00000371372.1	+	1	333	c.188C>T	c.(187-189)cCg>cTg	p.P63L	CACNA1B_ENST00000277551.2_Missense_Mutation_p.P63L|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P63L|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P63L|CACNA1B_ENST00000277549.5_5'UTR|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P63L	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	63					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AACCCCATCCCGGTCAAGCAG	0.657000													7	20					0	0	1	0	0
MLLT4	4301	broad.mit.edu	37	6	168348570	168348570	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:168348570C>T	ENST00000366806.2	+	28	3712	c.3570C>T	c.(3568-3570)gcC>gcT	p.A1190A	MLLT4_ENST00000447894.2_Silent_p.A1190A|MLLT4_ENST00000351017.4_Silent_p.A1197A|MLLT4_ENST00000392108.3_Silent_p.A1190A|MLLT4_ENST00000400822.3_Silent_p.A1189A|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000344191.4_Silent_p.A1190A|MLLT4_ENST00000392112.1_Silent_p.A1173A			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1190					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GTGCATATGCCTCTGGAACAA	0.408000			T	MLL	AL								12	11					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22434020	22434020	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22434020G>A	ENST00000390442.3	+	0	129																											CCAACAGAAGGAGGTGGAGCA	0.463000													14	52					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3165341	3165341	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3165341C>T	ENST00000520002.1	-	26	4384	c.3829G>A	c.(3829-3831)Gaa>Aaa	p.E1277K	CSMD1_ENST00000539096.1_Missense_Mutation_p.E1276K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E1277K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E1277K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E1276K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E1276K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E1277K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1277						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACCACATTCCGCTGTAGAA	0.453000													14	70					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								37	21					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3248157	3248157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:3248157C>T	ENST00000217939.6	-	4	765	c.611G>A	c.(610-612)cGg>cAg	p.R204Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	204						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGGCATGTTCCGAAGCATGCT	0.458000													7	6					0	0	1	0	0
TMED6	146456	broad.mit.edu	37	16	69385549	69385549	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:69385549G>A	ENST00000564737.1	-	1	84	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S	RP11-343C2.9_ENST00000563634.1_Intron|TMED6_ENST00000288025.3_Silent_p.F36F																							CAGCTCCACGGAAGAGTGGCT	0.517000													13	34					0	0	1	0	0
ARFGEF1	10565	broad.mit.edu	37	8	68169972	68169972	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:68169972G>A	ENST00000262215.3	-	17	2910	c.2521C>T	c.(2521-2523)Cca>Tca	p.P841S	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.P295S	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	841					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CATACCTGTGGACTGTGAAGG	0.308000													83	33					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79375868	79375868	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79375868C>T	ENST00000350881.2	+	20	2842	c.2652C>T	c.(2650-2652)ttC>ttT	p.F884F	THBS4_ENST00000504720.1_3'UTR|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Silent_p.F793F|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	884	TSP C-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		ACCGCTGGTTCCTACAGCACA	0.587000													4	11					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927174	23927174	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:23927174G>T	ENST00000402377.3	-	4	1319	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H	ZNF681_ENST00000395385.3_Missense_Mutation_p.P324H	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTTGTAGGGTTTCTCTCC	0.408000													15	18					7.93312e-07	7.96371e-07	1	1	0
LRRC31	79782	broad.mit.edu	37	3	169579558	169579558	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169579558C>T	ENST00000316428.5	-	2	276	c.219G>A	c.(217-219)gaG>gaA	p.E73E	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.E73E|LRRC31_ENST00000523069.1_Silent_p.E73E	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	73										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GCTCATTTTTCTCCATACTGG	0.383000													65	27					0	0	1	0	0
CD276	80381	broad.mit.edu	37	15	73996051	73996051	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:73996051C>T	ENST00000318443.5	+	5	1087	c.785C>T	c.(784-786)aCc>aTc	p.T262I	CD276_ENST00000318424.5_Intron|CD276_ENST00000564751.1_Intron|CD276_ENST00000561213.1_Missense_Mutation_p.T262I|CD276_ENST00000537340.2_Missense_Mutation_p.T116I	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	262	Ig-like V-type 2.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CTAGTGGGCACCGATGCCACC	0.662000													6	32					0	0	1	0	0
PCNX	22990	broad.mit.edu	37	14	71522276	71522276	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:71522276C>T	ENST00000304743.2	+	25	5079	c.4633C>T	c.(4633-4635)Cca>Tca	p.P1545S	PCNX_ENST00000439984.3_Missense_Mutation_p.P1434S|PCNX_ENST00000238570.5_Missense_Mutation_p.P1545S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1545						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATAGAAATCCAGGTAATAG	0.313000													58	45					0	0	1	0	0
RGS14	10636	broad.mit.edu	37	5	176799013	176799013	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:176799013G>A	ENST00000408923.3	+	15	1826	c.1638G>A	c.(1636-1638)caG>caA	p.Q546Q	RGS14_ENST00000506944.1_3'UTR	NM_006480.4	NP_006471.2	O43566	RGS14_HUMAN	regulator of G-protein signaling 14	546					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCACCACAGACCAAATCAG	0.622000													109	67					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581748	55581748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55581748G>A	ENST00000361849.3	-	34	6138	c.5744C>T	c.(5743-5745)tCa>tTa	p.S1915L	PCDH15_ENST00000320301.6_Missense_Mutation_p.S1913L|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1844L|PCDH15_ENST00000373957.3_Missense_Mutation_p.S767L|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1910L|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1873L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1890L|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1913					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGAAGTTCTGAAACATTTGT	0.348000										HNSCC(58;0.16)			16	57					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20065598	20065598	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20065598C>T	ENST00000396085.1	+	13	3340	c.2979C>T	c.(2977-2979)gaC>gaT	p.D993D	NAV2_ENST00000396087.3_Silent_p.D1016D|NAV2-AS2_ENST00000533767.1_RNA|NAV2_ENST00000360655.4_Silent_p.D929D|NAV2_ENST00000311043.8_Silent_p.D79D|NAV2_ENST00000540292.1_Silent_p.D947D|NAV2_ENST00000527559.2_Silent_p.D945D|NAV2_ENST00000349880.4_Silent_p.D993D|NAV2_ENST00000533917.1_Silent_p.D79D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1016						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGAAATCAGACGGAGGCTCAG	0.517000													18	71					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930184	121930184	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:121930184C>T	ENST00000265922.3	-	8	1925	c.1464G>A	c.(1462-1464)ctG>ctA	p.L488L	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		488					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GCAGGTACTTCAGCTCCAGGT	0.577000													15	12					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153779	5153779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5153779G>A	ENST00000307388.1	-	1	93	c.94C>T	c.(94-96)Cct>Tct	p.P32S		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAGAGAAAGGAATCCCAATC	0.388000													11	41					0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850988	245850988	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:245850988C>G	ENST00000366518.4	+	9	3664	c.3560C>G	c.(3559-3561)tCg>tGg	p.S1187W	KIF26B_ENST00000407071.2_Missense_Mutation_p.S1568W			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1568					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGTGCAGCCTCGGGCACCCCG	0.672000													5	15					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43339046	43339046	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43339046C>T	ENST00000380486.3	-	4	757	c.516G>A	c.(514-516)aaG>aaA	p.K172K	C2CD2_ENST00000329623.7_Silent_p.K17K	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	172						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GGTCCTCTCTCTTCTCCTTCA	0.473000													19	51					0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67257813	67257813	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67257813C>T	ENST00000279146.3	+	5	790	c.672C>T	c.(670-672)atC>atT	p.I224I	AIP_ENST00000525341.1_3'UTR	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	224					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						CTGAATGGATCCAGCTGGACC	0.632000									Familial Isolated Pituitary Adenoma				8	24					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176734925	176734925	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176734925G>A	ENST00000367662.3	+	15	5439	c.4275G>A	c.(4273-4275)agG>agA	p.R1425R		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1425	Sushi 1.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTTGTCAAAGGGGATTTGCCC	0.522000													115	53					0	0	1	0	0
KRT79	338785	broad.mit.edu	37	12	53217761	53217761	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53217761C>T	ENST00000330553.5	-	6	1090	c.1056G>A	c.(1054-1056)ggG>ggA	p.G352G		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	352	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAGGTTGTCCCCATGCTTCC	0.607000													7	13					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168093498	168093498	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:168093498C>T	ENST00000519560.1	-	36	4952	c.4533G>A	c.(4531-4533)gtG>gtA	p.V1511V	CTC-558O2.2_ENST00000520041.1_RNA|SLIT3_ENST00000332966.8_Silent_p.V1518V	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1511	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGTCTCTCCACCTCTTCTA	0.642000													8	22					0	0	1	0	0
OAZ3	51686	broad.mit.edu	37	1	151739673	151739673	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151739673C>T	ENST00000321531.5	+	2	234	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	OAZ3_ENST00000453029.2_Nonsense_Mutation_p.Q36*|OAZ3_ENST00000479764.1_5'UTR|OAZ3_ENST00000577465.1_3'UTR|RP11-98D18.3_ENST00000512280.1_RNA|OAZ3_ENST00000400999.1_5'UTR|OAZ3_ENST00000315067.8_Nonsense_Mutation_p.Q23*			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	20					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CTTGACACTCCAGCCCCGTTC	0.507000													68	123					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160864705	160864705	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160864705G>A	ENST00000392145.1	+	9	1471	c.1444G>A	c.(1444-1446)Gga>Aga	p.G482R	SLC22A3_ENST00000275300.2_Missense_Mutation_p.G481R			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	481						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TGATTTTGGGGGAATCATAGC	0.398000													8	24					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780291	169780291	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169780291G>A	ENST00000263817.6	-	28	3931	c.3807C>T	c.(3805-3807)acC>acT	p.T1269T		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1269	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGACAATGCAGGTCCGACCCT	0.522000													26	16					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347308	222347308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:222347308G>A	ENST00000281821.2	-	5	1123	c.1082C>T	c.(1081-1083)tCc>tTc	p.S361F	EPHA4_ENST00000409854.1_Missense_Mutation_p.S361F|EPHA4_ENST00000392071.4_Missense_Mutation_p.S310F|EPHA4_ENST00000409938.1_Missense_Mutation_p.S361F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	361	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S361F(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CACATTATAGGAAATGTCCTG	0.517000													51	65					0	0	1	0	0
TMEM259	91304	broad.mit.edu	37	19	1011891	1011891	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1011891G>A	ENST00000356663.3	-	6	1063	c.942_splice	c.e6+1	p.F314_splice	TMEM259_ENST00000333175.5_Splice_Site_p.F314_splice	NM_001033026.1	NP_001028198.1			transmembrane protein 259																		AGGCACTCACGAAGATGACCA	0.682000													3	10					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991720	38991720	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38991720C>T	ENST00000302328.3	-	1	332	c.134G>A	c.(133-135)gGa>gAa	p.G45E	SCN11A_ENST00000456224.3_Missense_Mutation_p.G45E|SCN11A_ENST00000450244.1_Missense_Mutation_p.G45E|SCN11A_ENST00000444237.2_Missense_Mutation_p.G45E	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	45					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGGTACTTCTCCTGTCTGGTC	0.527000													108	60					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	540747	540747	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:540747G>A	ENST00000270115.7	+	4	563	c.63G>A	c.(61-63)cgG>cgA	p.R21R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	21										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)		TCCGGGTGCGGGAGCTGAGCT	0.632000													6	33					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501930	150501930	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150501930G>A	ENST00000484928.1	+	7	1263	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	TMEM176A_ENST00000004103.3_Missense_Mutation_p.E228K|TMEM176A_ENST00000461345.1_Missense_Mutation_p.E169K			Q96HP8	T176A_HUMAN	transmembrane protein 176A	228						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAAGGAAATGTTGGA	0.522000													54	40					0	0	1	0	0
ADSSL1	122622	broad.mit.edu	37	14	105207039	105207039	+	Missense_Mutation	SNP	C	C	T	rs144784529		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105207039C>T	ENST00000332972.5	+	6	866	c.707C>T	c.(706-708)tCc>tTc	p.S236F	ADSSL1_ENST00000330877.2_Missense_Mutation_p.S193F	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	193					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	GATGAGTTTTCCTCCAGGTAC	0.597000													38	47					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958677	51958677	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51958677C>T	ENST00000321424.3	-	4	1112	c.1046G>A	c.(1045-1047)gGc>gAc	p.G349D	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G240D|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G256D	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	349					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCACCTGTGCCCTCATTCTG	0.627000													8	39					0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31805073	31805073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:31805073G>A	ENST00000379163.5	+	11	1433	c.1418G>A	c.(1417-1419)gGg>gAg	p.G473E	ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000350638.5_3'UTR			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	0					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GGACTTCTAGGGATTCCTCCT	0.478000													25	27					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230479	29230479	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29230479C>T	ENST00000441381.1	+	0	79																											CTCCTTATTCCTTAGTGGGAT	0.408000													6	34					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145533450	145533450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:145533450C>T	ENST00000369304.3	+	12	1508	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	ITGA10_ENST00000539363.1_Missense_Mutation_p.R302C|ITGA10_ENST00000538811.1_Missense_Mutation_p.R314C	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	445					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGGTGGACGCCGCCTGTTTCT	0.522000													90	97					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62838965	62838965	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62838965C>T	ENST00000536311.1	+	7	780	c.416C>T	c.(415-417)tCc>tTc	p.S139F	MYT1_ENST00000328439.1_Missense_Mutation_p.S139F|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	139					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCCGTCAAGTCCCATTTTGGA	0.577000													35	145					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209935900	209935900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209935900C>T	ENST00000367024.1	+	4	902	c.386C>T	c.(385-387)cCt>cTt	p.P129L	TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.P109L|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.P109L|TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.P129L|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.P109L			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	129						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		GCCCAGCATCCTCCTCCCTCA	0.577000													49	32					0	0	1	0	0
SLMAP	7871	broad.mit.edu	37	3	57847687	57847687	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:57847687T>G	ENST00000383718.3	+	9	938	c.840T>G	c.(838-840)agT>agG	p.S280R	SLMAP_ENST00000295951.3_Missense_Mutation_p.S280R|SLMAP_ENST00000449503.2_Missense_Mutation_p.S280R|SLMAP_ENST00000428312.1_Missense_Mutation_p.S280R|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Missense_Mutation_p.S280R			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	280					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		GAAGTCTGAGTAATACTGAAG	0.294000													15	69					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179484381	179484381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179484381C>T	ENST00000589042.1	-	250	46887	c.46663G>A	c.(46663-46665)Gac>Aac	p.D15555N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12987N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D6490N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6615N|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6682N|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D13914N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13914	Fibronectin type-III 13.		R -> I (in a colorectal adenocarcinoma sample; somatic mutation).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCTTTGTCTTTGGCAATA	0.388000													28	52					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150005324	150005324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:150005324G>A	ENST00000543571.1	-	4	1448	c.901C>T	c.(901-903)Cct>Tct	p.P301S	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Missense_Mutation_p.P301S|LATS1_ENST00000253339.5_Missense_Mutation_p.P301S	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	301					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GGTGGTGGAGGATAGCCCTCT	0.493000													30	27					0	0	1	0	0
BBS4	585	broad.mit.edu	37	15	73016891	73016891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:73016891C>T	ENST00000268057.4	+	8	523	c.482C>T	c.(481-483)gCc>gTc	p.A161V	BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000539603.1_Missense_Mutation_p.A149V|BBS4_ENST00000395205.2_Missense_Mutation_p.A169V	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	161	Interaction with PCM1.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						TTGCACAATGCCCTGAATCTT	0.403000									Bardet-Biedl syndrome				14	41					0	0	1	0	0
KRT36	8689	broad.mit.edu	37	17	39642748	39642748	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39642748G>A	ENST00000393986.2	-	8	1346	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	KRT36_ENST00000328119.6_Silent_p.V428V			O76013	KRT36_HUMAN	keratin 36	428	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCACAGAGGGGACACAGGGCA	0.592000													14	28					0	0	1	0	0
DCTN4	51164	broad.mit.edu	37	5	150112988	150112988	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:150112988A>G	ENST00000447998.2	-	5	594	c.479T>C	c.(478-480)gTt>gCt	p.V160A	DCTN4_ENST00000424236.1_Missense_Mutation_p.V103A|DCTN4_ENST00000446090.2_Missense_Mutation_p.V160A|DCTN4_ENST00000521093.1_5'UTR	NM_016221.3	NP_057305.1	Q9UJW0	DCTN4_HUMAN	dynactin 4 (p62)	160						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTCGCTCAACCTTCTCTTT	0.388000													22	26					0	0	1	0	0
ZP1	22917	broad.mit.edu	37	11	60637179	60637179	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:60637179C>T	ENST00000278853.5	+	3	488	c.488C>T	c.(487-489)tCc>tTc	p.S163F		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	163					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CAAACCCTTTCCTTCCTCCCC	0.612000													13	31					0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46991887	46991887	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46991887G>A	ENST00000371253.2	-	5	559	c.344C>T	c.(343-345)tCa>tTa	p.S115L	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.S115L	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	115					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATCAAGGCATGAGGGAGGAAA	0.502000													31	29					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436958	248436958	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248436958G>A	ENST00000318021.2	-	1	180	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGCGTGTGGAGCCGGTGGT	0.527000													6	143					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124335983	124335983	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124335983C>T	ENST00000368909.3	+	7	458	c.352C>T	c.(352-354)Cta>Tta	p.L118L	DMBT1_ENST00000368956.2_Silent_p.L118L|DMBT1_ENST00000330163.4_Silent_p.L118L|DMBT1_ENST00000338354.3_Silent_p.L118L|DMBT1_ENST00000344338.3_Silent_p.L118L|DMBT1_ENST00000368955.3_Silent_p.L118L|DMBT1_ENST00000359586.6_Silent_p.L118L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	118	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface 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)				AGTGGAGATCCTATACCGAGG	0.567000													45	110					0	0	1	0	0
PWWP2A	114825	broad.mit.edu	37	5	159520835	159520835	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:159520835G>A	ENST00000456329.3	-	2	856	c.822C>T	c.(820-822)ccC>ccT	p.P274P	PWWP2A_ENST00000523662.1_Silent_p.P274P|PWWP2A_ENST00000307063.7_Silent_p.P274P	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	274	Pro-rich.							p.P274P(3)		kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAAACAAAGGGGGAGGATAAG	0.498000													114	53					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012134	29012134	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29012134G>A	ENST00000377175.1	-	1	883	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						AGAGGGTGAGGAACTTGCCCT	0.443000													23	32					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30980933	30980933	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:30980933C>T	ENST00000295055.8	-	8	1021	c.845G>A	c.(844-846)tGg>tAg	p.W282*	CAPN13_ENST00000534090.2_Nonsense_Mutation_p.W282*|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	282	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GCGCCCTCTCCATTCGGCCTC	0.552000													4	31					0	0	1	0	0
ZNF143	7702	broad.mit.edu	37	11	9492905	9492905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:9492905C>T	ENST00000396602.2	+	2	169	c.50C>T	c.(49-51)cCt>cTt	p.P17L	ZNF143_ENST00000299606.2_Missense_Mutation_p.P17L|ZNF143_ENST00000396597.3_Missense_Mutation_p.P17L|ZNF143_ENST00000530463.1_Missense_Mutation_p.P17L|ZNF143_ENST00000396604.1_Missense_Mutation_p.P17L	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	17					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		ACAGAGTTTCCTGGAGGAGGG	0.443000													22	68					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542780	61542780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61542780C>T	ENST00000266070.4	-	3	510	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	DIDO1_ENST00000370366.1_Missense_Mutation_p.R62Q|DIDO1_ENST00000370368.1_Missense_Mutation_p.R62Q|DIDO1_ENST00000370371.4_Missense_Mutation_p.R62Q|DIDO1_ENST00000354665.4_Missense_Mutation_p.R62Q|DIDO1_ENST00000395343.1_Missense_Mutation_p.R62Q|DIDO1_ENST00000395335.2_Missense_Mutation_p.R62Q|DIDO1_ENST00000266071.5_Missense_Mutation_p.R62Q|DIDO1_ENST00000395340.1_Missense_Mutation_p.R62Q	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	62					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCACTGCGCCGCAGGGACAG	0.692000													5	25					0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	677525	677525	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:677525G>A	ENST00000535977.1	+	7	971	c.749G>A	c.(748-750)gGc>gAc	p.G250D	RAB40C_ENST00000248139.3_Missense_Mutation_p.G250D|RAB40C_ENST00000539661.1_Missense_Mutation_p.G250D|RAB40C_ENST00000538492.1_Missense_Mutation_p.G250D	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	250					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GCCGGGGGCGGCGGCAGCAAG	0.642000													25	31					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147114146	147114146	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:147114146C>T	ENST00000383075.3	-	3	693	c.181G>A	c.(181-183)Gga>Aga	p.G61R	ZIC4_ENST00000473123.1_Missense_Mutation_p.G61R|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.G99R|ZIC4_ENST00000525172.2_Missense_Mutation_p.G111R|ZIC4_ENST00000484399.1_Missense_Mutation_p.G61R	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	61						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCAGGAGTCCATTCAAAGGA	0.736000													4	27					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924775	188924775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:188924775G>A	ENST00000326866.4	+	4	1222	c.814G>A	c.(814-816)Gag>Aag	p.E272K	ZFP42_ENST00000509524.1_Missense_Mutation_p.E272K	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	272					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		CCACACGGGGGAGAAACGTTT	0.488000													16	47					0	0	1	0	0
FCHSD1	89848	broad.mit.edu	37	5	141021112	141021112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:141021112G>A	ENST00000435817.2	-	20	2076	c.2026C>T	c.(2026-2028)Ccg>Tcg	p.P676S	FCHSD1_ENST00000522126.1_3'UTR|FCHSD1_ENST00000522783.1_3'UTR|FCHSD1_ENST00000523856.1_5'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	676	Pro-rich.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGCCGGCGGGGGAGGTGGT	0.582000													4	12					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66533873	66533873	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:66533873C>T	ENST00000592554.1	-	11	2093	c.1371G>A	c.(1369-1371)aaG>aaA	p.K457K	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	457						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					AAAGTGTTTTCTTTTTTATCC	0.448000													4	18					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902129	51902129	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51902129G>A	ENST00000268919.4	+	1	1891	c.1735G>A	c.(1735-1737)Gat>Aat	p.D579N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	579					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTCAGAGGGATGAATTTAT	0.418000													37	74					0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44470728	44470728	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44470728G>A	ENST00000585916.1	-	2	313	c.314C>T	c.(313-315)cCt>cTt	p.P105L	PIAS2_ENST00000545673.1_Intron|PIAS2_ENST00000324794.7_Missense_Mutation_p.P105L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	105					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|PML body	androgen receptor binding|DNA binding|protein binding|SUMO ligase activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						TGAAGTGGAAGGCAACGAGTG	0.488000													9	10					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104577453	104577453	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:104577453G>A	ENST00000304883.2	-	3	926	c.786C>T	c.(784-786)atC>atT	p.I262I		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	262						integral to plasma membrane	tachykinin receptor activity	p.I262I(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TAATACCCATGATGAGCAATG	0.373000													59	56					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56488261	56488261	+	Silent	SNP	C	C	T	rs56073151		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56488261C>T	ENST00000267101.3	+	15	2220	c.1780C>T	c.(1780-1782)Cta>Tta	p.L594L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Silent_p.L535L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	594					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCATGGAGTCCTAGGTGCCAA	0.542000													56	81					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587954	55587954	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55587954C>T	ENST00000333976.4	+	1	869	c.849C>T	c.(847-849)atC>atT	p.I283I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCGTGGTGATCCCCATGTTGA	0.473000													10	46					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634325	70634325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:70634325C>T	ENST00000381269.2	-	2	1568	c.815G>A	c.(814-816)gGa>gAa	p.G272E	SLC8A3_ENST00000356921.2_Missense_Mutation_p.G272E|SLC8A3_ENST00000534137.1_Missense_Mutation_p.G272E|SLC8A3_ENST00000357887.3_Missense_Mutation_p.G272E|SLC8A3_ENST00000528359.1_Missense_Mutation_p.G272E	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	272	Calmodulin-binding (By similarity).				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TATGATAATTCCTCGGTGTTT	0.468000													21	51					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9490783	9490783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9490783C>T	ENST00000446085.4	+	9	836	c.304C>T	c.(304-306)Cct>Tct	p.P102S	ZNF177_ENST00000541595.2_Missense_Mutation_p.P102S|ZNF177_ENST00000343499.4_Missense_Mutation_p.P102S|ZNF177_ENST00000434737.2_Missense_Mutation_p.P102S|ZNF177_ENST00000602856.1_Missense_Mutation_p.P102S|ZNF177_ENST00000602738.1_Missense_Mutation_p.P102S|ZNF177_ENST00000589262.1_Missense_Mutation_p.P102S|ZNF177_ENST00000590616.1_Missense_Mutation_p.P102S|ZNF177_ENST00000605471.1_3'UTR			Q13360	ZN177_HUMAN	zinc finger protein 177	102					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GCAGAACATTCCTGGGGGAAA	0.373000													15	13					0	0	1	0	0
POTEM	641455	broad.mit.edu	37	14	20019948	20019948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20019948C>T	ENST00000551509.1	-	1	324	c.273G>A	c.(271-273)atG>atA	p.M91I		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	91										endometrium(4)|kidney(1)|lung(4)	9						TGAGTGTCTTCATAGCAGAGT	0.632000													43	287					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62385095	62385095	+	Missense_Mutation	SNP	C	C	T	rs147103435		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:62385095C>T	ENST00000383710.4	-	30	4397	c.4048G>A	c.(4048-4050)Gaa>Aaa	p.E1350K	CADPS_ENST00000357948.3_Missense_Mutation_p.E1271K|CADPS_ENST00000283269.9_Missense_Mutation_p.E1311K	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1350	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	p.E1350K(2)|p.E1311K(2)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCGTCTTCTTCGTCTTCCTCA	0.498000													19	72					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32025965	32025965	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32025965C>T	ENST00000375244.3	-	22	7896	c.7695G>A	c.(7693-7695)gcG>gcA	p.A2565A	TNXB_ENST00000375247.2_Silent_p.A2565A			P22105	TENX_HUMAN	tenascin XB	2625					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAACACGCACCGCCTGGGGCC	0.677000													143	277					0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531930	140531930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140531930C>T	ENST00000231136.1	+	1	2092	c.2092C>T	c.(2092-2094)Ctc>Ttc	p.L698F	PCDHB6_ENST00000543635.1_Missense_Mutation_p.L562F	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		698					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGTCGTCGCTCTTCCTCTT	0.692000													36	136					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915871	72915871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72915871C>T	ENST00000319642.1	-	2	1242	c.1060G>A	c.(1060-1062)Gat>Aat	p.D354N		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	354					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGCTGTCATCGTCCAGGCTG	0.677000													40	52					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764286	92764286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92764286C>T	ENST00000318238.4	-	5	2215	c.999G>A	c.(997-999)tgG>tgA	p.W333*	SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.W333*|SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.W333*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	333										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GGTTTTGTTTCCATATTTTAT	0.343000													17	90					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934858	94934858	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:94934858C>T	ENST00000396200.3	+	3	922	c.646C>T	c.(646-648)Cag>Tag	p.Q216*	PDP1_ENST00000297598.4_Nonsense_Mutation_p.Q191*|PDP1_ENST00000520728.1_Nonsense_Mutation_p.Q191*|PDP1_ENST00000517764.1_Nonsense_Mutation_p.Q191*	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	191					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACCCATTCTCCAGTGGCACAA	0.443000													39	17					0	0	1	0	0
LRRC25	126364	broad.mit.edu	37	19	18507256	18507256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18507256C>T	ENST00000339007.3	-	1	1171	c.518G>A	c.(517-519)gGg>gAg	p.G173E	LRRC25_ENST00000595840.1_Missense_Mutation_p.G173E	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	173						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						AAGCAGGCACCCGCTGACCAC	0.647000													16	23					0	0	1	0	0
ATP11C	286410	broad.mit.edu	37	X	138823170	138823170	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:138823170G>A	ENST00000370557.1	-	27	4132	c.3105C>T	c.(3103-3105)ttC>ttT	p.F1035F	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Silent_p.F1041F|ATP11C_ENST00000361648.2_Silent_p.F1041F|ATP11C_ENST00000359686.2_Silent_p.F1041F|ATP11C_ENST00000370543.1_Silent_p.F1041F			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1041					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CTCCCCAGAAGAATGAGAAAA	0.363000													30	3					0	0	1	0	0
CHMP4A	29082	broad.mit.edu	37	14	24682688	24682688	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24682688G>A	ENST00000347519.6	-	1	387	c.87C>T	c.(85-87)gtC>gtT	p.V29V	AL136419.6_ENST00000565988.1_RNA	NM_014169.3	NP_054888.2			charged multivesicular body protein 4A											NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		GCGTCCTCCAGACTTCCGCCT	0.667000													14	35					0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699294	43699294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43699294G>A	ENST00000405312.3	-	4	1078	c.841C>T	c.(841-843)Cct>Tct	p.P281S	PSG4_ENST00000433626.2_Missense_Mutation_p.P188S|PSG4_ENST00000244295.9_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	281	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGACTGACAGGGAGGCTCTGA	0.443000													64	285					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133829221	133829221	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133829221T>C	ENST00000395386.2	+	11	1571	c.1272T>C	c.(1270-1272)ccT>ccC	p.P424P	PHF20L1_ENST00000315808.10_Silent_p.P424P|PHF20L1_ENST00000395382.3_Silent_p.P294P|PHF20L1_ENST00000395383.1_Silent_p.P428P|PHF20L1_ENST00000395390.2_Silent_p.P399P|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	424							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TACCCATGCCTGATGATTCTG	0.463000													24	40					0	0	1	0	0
KLK3	354	broad.mit.edu	37	19	51363376	51363376	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51363376A>G	ENST00000326003.2	+	5	820	c.779A>G	c.(778-780)aAc>aGc	p.N260S	KLK3_ENST00000360617.3_3'UTR|KLK3_ENST00000595952.1_Missense_Mutation_p.N217S	NM_001030047.1|NM_001030048.1|NM_001648.2	NP_001025218.1|NP_001025219.1|NP_001639.1	P07288	KLK3_HUMAN	kallikrein-related peptidase 3	260					negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		ATCGTGGCCAACCCCTGAGCA	0.547000													27	78					0	0	1	0	0
DAW1	164781	broad.mit.edu	37	2	228770952	228770952	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228770952G>A	ENST00000373666.2	+	9	1392	c.755_splice	c.e9-1	p.R252_splice	DAW1_ENST00000309931.2_Splice_Site_p.R252_splice|DAW1_ENST00000545118.1_Splice_Site_p.R237_splice					dynein assembly factor with WDR repeat domains 1																		TGTGTTGTAGGAAGGTAAATA	0.348000													14	22					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113569031	113569031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:113569031C>T	ENST00000297405.5	-	25	4439	c.4195G>A	c.(4195-4197)Gag>Aag	p.E1399K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E1359K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1295K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1399K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1399	Sushi 7.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GCCCTTCTCTCCCCTGTCATG	0.443000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	54					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25136116	25136116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:25136116C>T	ENST00000276440.7	+	5	300	c.256C>T	c.(256-258)Ccc>Tcc	p.P86S	DOCK5_ENST00000481100.1_Missense_Mutation_p.P86S	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	86						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGCGAGCTCCCCCTGGTGCA	0.557000													5	29					0	0	1	0	0
ALOX12B	242	broad.mit.edu	37	17	7984079	7984079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7984079C>T	ENST00000319144.4	-	5	807	c.547G>A	c.(547-549)Gga>Aga	p.G183R	AC129492.6_ENST00000399413.3_3'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	183	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						ATTGGGAATCCCGGAATATAG	0.602000										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	95					0	0	1	0	0
PCK1	5105	broad.mit.edu	37	20	56140624	56140624	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:56140624G>A	ENST00000319441.4	+	10	1797	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N	PCK1_ENST00000543666.1_Missense_Mutation_p.D228N	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	545					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAACCGGATCGATGGAAAAGC	0.542000													23	69					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454860	29454860	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:29454860C>T	ENST00000216071.4	-	3	794	c.743G>A	c.(742-744)tGg>tAg	p.W248*		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	248										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						AAGAGCCTCCCAGAGCTTTTG	0.587000													25	67					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060331	46060331	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46060331G>A	ENST00000295452.4	-	7	986	c.819C>T	c.(817-819)ttC>ttT	p.F273F		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	273					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCTGAATAGTGAAATATCCCA	0.343000													14	15					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22884757	22884757	+	Silent	SNP	G	G	A	rs141284481		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:22884757G>A	ENST00000276431.4	-	7	1109	c.825C>T	c.(823-825)atC>atT	p.I275I	TNFRSF10B_ENST00000542226.1_Silent_p.I95I|TNFRSF10B_ENST00000347739.3_Silent_p.I246I	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	275					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		AGATACTCACGATCTCATTGA	0.557000													13	61					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099166	168099166	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168099166G>A	ENST00000409195.1	+	9	1353	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E200K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E422K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	247					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCAGAGGAAGGAAACATCAAC	0.423000													16	29					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142564675	142564675	+	Silent	SNP	C	C	T	rs151016022	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142564675C>T	ENST00000392957.2	+	11	2386	c.1599C>T	c.(1597-1599)tcC>tcT	p.S533S	EPHB6_ENST00000442129.1_Silent_p.S533S|EPHB6_ENST00000411471.2_Silent_p.S256S	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	533	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AAGACGAATCCCACTCCTTCA	0.652000													22	42					0	0	1	0	0
FCRL4	83417	broad.mit.edu	37	1	157551414	157551414	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:157551414C>T	ENST00000271532.1	-	7	1291	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	386						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GCGACAAGGCCATCTCTGTTG	0.577000													22	13					0	0	1	0	0
STK32B	55351	broad.mit.edu	37	4	5458575	5458575	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:5458575C>T	ENST00000282908.5	+	8	1130	c.708C>T	c.(706-708)atC>atT	p.I236I	STK32B_ENST00000512636.1_Silent_p.I159I|STK32B_ENST00000510398.1_Silent_p.I189I|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	236	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCGATGAAATCCTCAACATGT	0.572000													6	2					0	0	1	0	0
SUPV3L1	6832	broad.mit.edu	37	10	70940115	70940115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:70940115C>T	ENST00000359655.4	+	1	128	c.68C>T	c.(67-69)gCc>gTc	p.A23V	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	23					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACCGGGCAGCCATCTGCTCT	0.682000													14	24					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238586	48238586	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48238586C>T	ENST00000309562.2	+	1	243	c.225C>T	c.(223-225)atC>atT	p.I75I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTCCACTATCGCCCCTAAAT	0.453000													33	131					0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96348103	96348103	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96348103G>A	ENST00000348459.5	+	13	1549	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Missense_Mutation_p.A528T|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.A384T	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	482					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		CTTTTATACAGCCATTGTGAA	0.363000													6	29					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40730916	40730916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40730916G>A	ENST00000373198.3	-	27	3863	c.3628C>T	c.(3628-3630)Cgt>Tgt	p.R1210C	PTPRT_ENST00000373201.1_Missense_Mutation_p.R1178C|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1197C|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1198C|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1187C|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1191C|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1188C	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1188	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCCGCACACGGGGTGTCACA	0.567000													7	49					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40701717	40701717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:40701717C>T	ENST00000372771.4	+	8	1370	c.1343C>T	c.(1342-1344)cCa>cTa	p.P448L		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	448					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCACCGGTTCCAAATTCTCTT	0.373000													55	9					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036349	71036349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:71036349G>A	ENST00000333538.5	+	6	1676	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	348	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCCTGGCATGGATGTATACGG	0.507000													24	104					0	0	1	0	0
DPY19L2P2	349152	broad.mit.edu	37	7	102837634	102837634	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:102837634C>T	ENST00000312132.4	-	0	3537																											AATCCCTTACCCGTCAAGAGC	0.358000													4	25					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750635	141750635	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141750635C>T	ENST00000475668.2	+	24	2830	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S	MGAM_ENST00000549489.2_Missense_Mutation_p.P926S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	926					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGACTTCTCCTACAGTCAC	0.398000													30	64					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151165712	151165712	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:151165712G>A	ENST00000282466.3	-	4	2056	c.2057C>T	c.(2056-2058)cCt>cTt	p.P686L		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	686					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P686L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGCAATAGGATTGGACTC	0.463000													18	45					0	0	1	0	0
PARP3	10039	broad.mit.edu	37	3	51979198	51979198	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:51979198C>T	ENST00000417220.2	+	7	1307	c.819C>T	c.(817-819)atC>atT	p.I273I	PARP3_ENST00000398755.3_Silent_p.I280I|PARP3_ENST00000431474.1_Silent_p.I273I			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	273	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCCGCCCATCAATTCCCCTG	0.627000													32	51					0	0	1	0	0
CCDC33	80125	broad.mit.edu	37	15	74623558	74623558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:74623558G>A	ENST00000321288.5	+	17	2301	c.2301G>A	c.(2299-2301)atG>atA	p.M767I	CCDC33_ENST00000558821.1_Missense_Mutation_p.M157I|CCDC33_ENST00000268082.4_Missense_Mutation_p.M157I|CCDC33_ENST00000398814.3_Missense_Mutation_p.M564I			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	767							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCGAGAAGATGGAGCGGGTGC	0.652000													16	55					0	0	1	0	0
ATRIP	84126	broad.mit.edu	37	3	48501565	48501565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:48501565C>T	ENST00000412052.1	+	8	1295	c.833C>T	c.(832-834)tCc>tTc	p.S278F	ATRIP_ENST00000346691.4_Missense_Mutation_p.S371F|ATRIP_ENST00000357105.6_Missense_Mutation_p.S244F|ATRIP_ENST00000320211.3_Missense_Mutation_p.S371F	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	371					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGGTCATTTTCCCTCTCAGCC	0.512000								Other conserved DNA damage response genes					47	25					0	0	1	0	0
LMO3	55885	broad.mit.edu	37	12	16713427	16713427	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:16713427G>A	ENST00000320122.6	-	3	774	c.252C>T	c.(250-252)atC>atT	p.I84I	LMO3_ENST00000354662.1_Silent_p.I84I|LMO3_ENST00000535535.1_Silent_p.I84I|LMO3_ENST00000261169.6_Silent_p.I95I|LMO3_ENST00000541295.1_Silent_p.I102I|LMO3_ENST00000537304.1_Silent_p.I84I|LMO3_ENST00000534946.1_Silent_p.I84I|LMO3_ENST00000447609.1_Silent_p.I84I|LMO3_ENST00000540445.1_Silent_p.I106I|LMO3_ENST00000541846.1_Silent_p.I84I|LMO3_ENST00000540848.1_Silent_p.I84I|LMO3_ENST00000441439.2_Silent_p.I84I	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	84	LIM zinc-binding 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CAAAGGCAGGGATGAGCTTAC	0.423000													31	24					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411754	51411754	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51411754G>A	ENST00000319760.6	-	1	694	c.642C>T	c.(640-642)tcC>tcT	p.S214S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGACTCCATAGGAGATTAACA	0.448000													6	34					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69002929	69002929	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:69002929G>A	ENST00000288368.4	+	20	2506	c.2229G>A	c.(2227-2229)agG>agA	p.R743R	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	743	PDZ 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCCTGCAGGAAGTACAGGC	0.498000													16	49					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74289888	74289888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74289888G>A	ENST00000262765.5	-	4	601	c.422C>T	c.(421-423)cCc>cTc	p.P141L		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	141							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGTACCAGAGGGGACCTTGCT	0.562000													44	37					0	0	1	0	0
KIF18A	81930	broad.mit.edu	37	11	28080652	28080652	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:28080652G>A	ENST00000263181.6	-	13	2059	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	590					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TGACAGGCCGGCTTCTTTTAA	0.373000													29	109					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22711466	22711466	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22711466C>T	ENST00000314246.8	-	0	738																											GAGAATGTTTCGTGTGGTACA	0.468000													24	18					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324264	161324264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:161324264G>A	ENST00000428797.2	+	11	1562	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_ENST00000023897.6_Missense_Mutation_p.E403K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E403K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E403K|GABRA1_ENST00000393943.4_Missense_Mutation_p.E403K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E403K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	403					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E403K(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGTCAAGCCCGAAACAAAACC	0.473000													70	31					0	0	1	0	0
DARC	2532	broad.mit.edu	37	1	159176192	159176192	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159176192C>T	ENST00000537147.1	+	3	1806	c.963C>T	c.(961-963)ctC>ctT	p.L321L	DARC_ENST00000368122.2_Silent_p.L321L|DARC_ENST00000368121.2_Silent_p.L323L			Q16570	DUFFY_HUMAN	Duffy blood group, atypical chemokine receptor	321					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CTCTGCCCCTCCCTGAAGGAT	0.557000													213	199					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25479440	25479440	+	RNA	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:25479440T>C	ENST00000453082.2	+	0	1891				SNORD115-35_ENST00000365122.1_RNA	NR_003343.1																						AGGTGATGACTTAAAAATCAT	0.493000													98	164					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26455093	26455093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26455093C>T	ENST00000265944.5	+	27	3263	c.3097C>T	c.(3097-3099)Ctt>Ttt	p.L1033F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1033	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAACTGGGCTCTTGGAAAAAC	0.398000													41	162					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123805592	123805592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:123805592G>A	ENST00000422452.2	-	6	1172	c.1109C>T	c.(1108-1110)tCc>tTc	p.S370F	TENM1_ENST00000371130.3_Missense_Mutation_p.S370F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AGTGTCCATGGACTCGGTCCC	0.428000													35	35					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68475844	68475844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68475844C>T	ENST00000255087.5	-	10	1642	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	487					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTTCCAAATTCCTCCAGGATC	0.483000													11	69					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174948	63174948	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:63174948C>T	ENST00000322893.7	-	11	2513	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	749					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACGCTGGTTCCGGTGATGGAG	0.537000													30	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058180	9058180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9058180G>A	ENST00000397910.4	-	3	29469	c.29266C>T	c.(29266-29268)Cct>Tct	p.P9756S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9758	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGTCACAGGAAGAGGAGAG	0.473000													13	20					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29599996	29599996	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:29599996G>A	ENST00000431530.3	+	1	1249	c.1191G>A	c.(1189-1191)ggG>ggA	p.G397G		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	387						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCAACCCAGGGGAGCAGGATT	0.562000													9	1					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100261799	100261799	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:100261799G>A	ENST00000515683.1	-	0	1248					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGAGGTTCTGGGAATCAGGAG	0.443000													89	148					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185956672	185956672	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:185956672C>T	ENST00000271588.4	+	20	3273	c.3044C>T	c.(3043-3045)tCc>tTc	p.S1015F	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1015F|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1015	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCATCTGGTCCAAGGTAAAT	0.458000													87	139					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56044656	56044656	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:56044656G>A	ENST00000244728.5	-	3	757	c.360C>T	c.(358-360)atC>atT	p.I120I	COL21A1_ENST00000535941.1_Silent_p.I120I|COL21A1_ENST00000370819.1_Silent_p.I120I	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	120	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCGCAAACTGGATGGCCTTCC	0.468000													12	24					0	0	1	0	0
METTL25	84190	broad.mit.edu	37	12	82870468	82870468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:82870468C>T	ENST00000248306.3	+	10	1687	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*		NM_032230.2	NP_115606.2			methyltransferase like 25									p.R540G(1)									GTATAAGCCTCGAATGAATGA	0.279000													27	18					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279695	114279695	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:114279695G>A	ENST00000357077.4	+	38	9974	c.9921G>A	c.(9919-9921)agG>agA	p.R3307R	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.R3274R|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3274					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCCTGTAAGGACTATGCCCA	0.443000													23	100					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63175003	63175003	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:63175003C>T	ENST00000322893.7	-	11	2458	c.2190G>A	c.(2188-2190)gaG>gaA	p.E730E	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	730					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GTTGGTTCCTCTCAGGGTCAC	0.557000													54	62					0	0	1	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139758	142139758	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142139758G>A	ENST00000390374.3	-	0	57																											CAGCATAGGAGACTGGTGCCC	0.537000													25	42					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900873	51900873	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51900873G>A	ENST00000268919.4	+	1	635	c.479G>A	c.(478-480)cGg>cAg	p.R160Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	160					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAGGAGCAGCGGGAAAAGCGC	0.552000													31	88					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896993	48896993	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:48896993G>A	ENST00000394754.1	+	9	3337	c.3223G>A	c.(3223-3225)Gaa>Aaa	p.E1075K	GTF2A1L_ENST00000403751.3_Missense_Mutation_p.E371K|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E1075K|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.E337K|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E1075K|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E1028K|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E1075K	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		1028					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGATGAGAATGAATTTCTAGG	0.383000													15	97					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285549	48285549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48285549C>T	ENST00000320048.1	+	1	137	c.137C>T	c.(136-138)aCc>aTc	p.T46I		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATTGTGGTGACCATCCTGGCC	0.498000													14	47					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890591	26890591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:26890591G>A	ENST00000231021.4	-	8	1508	c.1336C>T	c.(1336-1338)Ctt>Ttt	p.L446F		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	446	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.L446I(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCCGGTCAAGGGCTTTCAAA	0.423000													18	46					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12277206	12277206	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:12277206T>G	ENST00000256194.4	+	23	3152	c.2864T>G	c.(2863-2865)gTg>gGg	p.V955G	MICAL2_ENST00000379612.3_Intron|MICAL2_ENST00000342902.5_Missense_Mutation_p.V934G|MICAL2_ENST00000527546.1_Missense_Mutation_p.V765G|MICAL2_ENST00000537344.1_Missense_Mutation_p.V765G	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	955						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GTAGGGAAAGTGTCCAGCGGA	0.537000													9	14					0	0	1	0	0
CDCP1	64866	broad.mit.edu	37	3	45153916	45153916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:45153916G>A	ENST00000296129.1	-	3	448	c.314C>T	c.(313-315)cCt>cTt	p.P105L	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.P105L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	105						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTCCCCAAAAGGACATGGGCC	0.507000													117	77					0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92988151	92988151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:92988151C>T	ENST00000523629.1	-	10	1784	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	RUNX1T1_ENST00000520724.1_Missense_Mutation_p.E407K|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.E455K|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.E417K|GS1-5L10.1_ENST00000522980.1_RNA|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.E417K|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.E407K|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.E407K|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.E444K	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	444					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCCAGATCTCCTCTGGCACG	0.478000													39	112					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162873347	162873347	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:162873347A>G	ENST00000360534.3	-	18	2058	c.1498T>C	c.(1498-1500)Ttg>Ctg	p.L500L	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	500					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATTTTATCCAAAGCTGAATTG	0.353000													12	32					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111034	55111034	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55111034C>T	ENST00000314721.2	+	1	408	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGCCTATGATCGCTATGTGGC	0.463000													42	135					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459654	49459654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:49459654G>A	ENST00000374201.3	-	2	408	c.106C>T	c.(106-108)Ctc>Ttc	p.L36F	FRMPD2_ENST00000407470.4_Missense_Mutation_p.L27F|FRMPD2_ENST00000305531.3_Missense_Mutation_p.L34F	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	36	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		AGGAACAGGAGGGACCAGATT	0.562000													13	39					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351760	132351760	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:132351760G>A	ENST00000310125.4	-	1	616	c.528C>T	c.(526-528)atC>atT	p.I176I		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	176	Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCCTGGAGATGATATTCATGG	0.478000													20	3					0	0	1	0	0
TUSC3	7991	broad.mit.edu	37	8	15508299	15508299	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:15508299T>G	ENST00000382020.4	+	3	610	c.402T>G	c.(400-402)gaT>gaG	p.D134E	TUSC3_ENST00000503731.1_Missense_Mutation_p.D134E|TUSC3_ENST00000503191.1_Intron|TUSC3_ENST00000506802.1_Missense_Mutation_p.D134E|TUSC3_ENST00000509380.1_Missense_Mutation_p.D134E	NM_178234.2	NP_839952.1	Q13454	TUSC3_HUMAN	tumor suppressor candidate 3	134					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		TGGACTATGATGAGGGGACAG	0.358000													25	119					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40251394	40251394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:40251394C>T	ENST00000302541.6	+	11	2057	c.1715C>T	c.(1714-1716)cCc>cTc	p.P572L	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000396217.3_Missense_Mutation_p.P483L|MYRIP_ENST00000425621.1_Missense_Mutation_p.P572L|MYRIP_ENST00000444716.1_Missense_Mutation_p.P572L|MYRIP_ENST00000539167.1_Missense_Mutation_p.P385L	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	572	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCTCGGGATCCCCAGACTCTC	0.483000													61	27					0	0	1	0	0
ITPK1	3705	broad.mit.edu	37	14	93483031	93483031	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:93483031T>C	ENST00000267615.6	-	4	409	c.236A>G	c.(235-237)cAc>cGc	p.H79R	ITPK1_ENST00000555495.1_5'UTR|ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.H79R|ITPK1_ENST00000556603.2_Missense_Mutation_p.H79R			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	79					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CTGGAACCTGTGCACCAGCTC	0.592000													29	48					0	0	1	0	0
EPAS1	2034	broad.mit.edu	37	2	46574149	46574149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:46574149C>T	ENST00000263734.3	+	2	674	c.164C>T	c.(163-165)tCc>tTc	p.S55F	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	55	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GACAAGGCCTCCATCATGCGA	0.622000													79	89					0	0	1	0	0
OR8I2	120586	broad.mit.edu	37	11	55861600	55861600	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55861600G>A	ENST00000302124.2	+	1	848	c.817G>A	c.(817-819)Gca>Aca	p.A273T	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A273S(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GGCGCAGGTGGCATCTGTATT	0.443000													42	48					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655350	247655350	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247655350G>A	ENST00000522351.1	+	0	981							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CTTCTGGGGTGGGAGAAAGGG	0.502000													18	102					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216373131	216373131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:216373131C>T	ENST00000366943.2	-	17	4035	c.3649G>A	c.(3649-3651)Gat>Aat	p.D1217N	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Missense_Mutation_p.D1217N|USH2A_ENST00000307340.3_Missense_Mutation_p.D1217N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1217	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1217N(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)		ACAGAAAAATCGTACTTGGCA	0.517000										HNSCC(13;0.011)			55	29					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544027	82544027	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82544027G>A	ENST00000423517.2	-	7	13612	c.13275C>T	c.(13273-13275)ttC>ttT	p.F4425F	PCLO_ENST00000333891.8_Silent_p.F4425F|PCLO_ENST00000437081.1_Silent_p.F1145F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4356					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGCATGTTGGAAGTCATCCA	0.433000													4	23					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57246866	57246866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:57246866G>A	ENST00000607273.1	+	7	680	c.593G>A	c.(592-594)aGg>aAg	p.R198K	PRIM2_ENST00000389488.2_3'UTR	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	198					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTCGAGGAAGGAAAGTCTAT	0.403000													7	36					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137313574	137313574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137313574C>T	ENST00000540193.1	+	5	1465	c.542C>T	c.(541-543)aCc>aTc	p.T181I	RXRA_ENST00000481739.1_Missense_Mutation_p.T278I|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	278					cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CAGCTTTTCACCCTGGTGGAG	0.602000													17	36					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61819670	61819670	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61819670G>A	ENST00000373827.2	-	40	5003	c.4833C>T	c.(4831-4833)atC>atT	p.I1611I	ANK3_ENST00000503366.1_Silent_p.I1618I|ANK3_ENST00000280772.1_Intron|RP11-388P9.2_ENST00000414383.1_RNA|ANK3_ENST00000355288.2_Silent_p.I751I	NM_001204403.1	NP_001191332.1	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3668	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTATGCTAGAGATATCACTAA	0.498000													17	61					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34060901	34060901	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34060901C>T	ENST00000389232.4	+	61	8818	c.8748C>T	c.(8746-8748)tcC>tcT	p.S2916S	RYR3_ENST00000415757.3_Silent_p.S2916S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2916					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAGAATTTCCCTCTTTGGTA	0.448000													14	118					0	0	1	0	0
TRAV41	28640	broad.mit.edu	37	14	22789052	22789052	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22789052G>A	ENST00000390468.1	+	0	265																											AAACATACAGGAAAAGCACAG	0.527000													4	31					0	0	1	0	0
SLC11A1	6556	broad.mit.edu	37	2	219251363	219251363	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219251363C>T	ENST00000233202.6	+	5	739	c.399C>T	c.(397-399)ccC>ccT	p.P133P	SLC11A1_ENST00000473367.1_3'UTR|SLC11A1_ENST00000539932.1_Silent_p.P15P	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	133					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|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATAGGTGCCCCGCACCGTCC	0.537000													6	11					0	0	1	0	0
PER2	8864	broad.mit.edu	37	2	239176773	239176773	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:239176773C>T	ENST00000254657.3	-	8	1170	c.891G>A	c.(889-891)aaG>aaA	p.K297K	PER2_ENST00000355768.2_Silent_p.K297K|PER2_ENST00000254658.3_Silent_p.K297K|PER2_ENST00000440245.1_Silent_p.K297K	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	297					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGTCCCGCACCTTGACCAGGT	0.572000													11	25					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154516556	154516556	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154516556C>T	ENST00000368482.4	+	9	1459	c.621C>T	c.(619-621)acC>acT	p.T207T	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Silent_p.T207T	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	207							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCCGAAGACCCCGTTTTTCT	0.622000													59	49					0	0	1	0	0
IGHV3-74	28408	broad.mit.edu	37	14	107219103	107219103	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:107219103G>A	ENST00000424969.2	-	0	262																											TAGCAACAAGGAAAACCCAGC	0.498000													56	82					0	0	1	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47202494	47202494	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:47202494G>A	ENST00000296861.2	-	5	2043	c.1650C>T	c.(1648-1650)ttC>ttT	p.F550F		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	550					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACTCATCCACGAAGAAGCCCT	0.597000													4	17					0	0	1	0	0
ABCG1	9619	broad.mit.edu	37	21	43704778	43704778	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43704778C>T	ENST00000398437.1	+	8	1429	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	ABCG1_ENST00000347800.2_Silent_p.F278F|ABCG1_ENST00000398457.2_Silent_p.F283F|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398449.3_Silent_p.F281F|ABCG1_ENST00000343687.3_Silent_p.F292F|ABCG1_ENST00000361802.2_Silent_p.F281F|ABCG1_ENST00000340588.4_Silent_p.F389F			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	281	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCAAACTCTTCGAGCTGTTCG	0.627000													14	56					0	0	1	0	0
TRIM51HP	440041	broad.mit.edu	37	11	55063069	55063069	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55063069C>T	ENST00000526016.1	-	0	568					NR_038174.2																						GCCCTCCTTTCACAGCCTCTC	0.408000													5	20					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35086119	35086119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35086119G>A	ENST00000311875.5	-	10	1895	c.1478C>T	c.(1477-1479)cCc>cTc	p.P493L	TCP11_ENST00000512012.1_Missense_Mutation_p.P480L|TCP11_ENST00000412155.2_Missense_Mutation_p.P442L|TCP11_ENST00000444780.2_Missense_Mutation_p.P488L|TCP11_ENST00000373979.2_Missense_Mutation_p.P418L|TCP11_ENST00000373974.4_Missense_Mutation_p.P447L|TCP11_ENST00000418521.2_Missense_Mutation_p.P417L|TCP11_ENST00000244645.3_Missense_Mutation_p.P418L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	480					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						AGTGTAGTAGGGACCAAACAC	0.493000													46	170					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009489	5009489	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5009489C>T	ENST00000380390.1	+	2	264	c.48C>T	c.(46-48)ttC>ttT	p.F16F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000300762.1_Silent_p.F16F			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	16					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CCTGGTGTTTCGCCGTTCCAG	0.502000											OREG0003716	type=REGULATORY REGION|Gene=MMP26|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	29	110					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82532040	82532040	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82532040C>T	ENST00000423517.2	-	9	13792	c.13455G>A	c.(13453-13455)ggG>ggA	p.G4485G	PCLO_ENST00000333891.8_Silent_p.G4485G	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4416					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATAGTTTTCCCGTTCATCT	0.313000													14	47					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848847	166848847	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166848847G>A	ENST00000423058.2	-	26	4955	c.4938C>T	c.(4936-4938)atC>atT	p.I1646I	SCN1A_ENST00000409050.1_Silent_p.I1618I|SCN1A_ENST00000375405.3_Silent_p.I1635I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Silent_p.I1646I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1646						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TCAGACGTAGGATTCGGCCAA	0.478000													21	58					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284634	62284634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62284634G>A	ENST00000378024.4	-	5	17529	c.17255C>T	c.(17254-17256)tCt>tTt	p.S5752F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5752					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCTTCCAGAGAGCCCAGGCT	0.483000													49	40					0	0	1	0	0
PIK3CB	5291	broad.mit.edu	37	3	138461459	138461459	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:138461459A>G	ENST00000477593.1	-	4	635	c.562T>C	c.(562-564)Tta>Cta	p.L188L	PIK3CB_ENST00000289153.2_Silent_p.L188L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	188	PI3K-RBD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTATCTTCTAAGTTTTCAGGG	0.358000													109	305					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43606806	43606806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:43606806C>T	ENST00000355710.3	+	7	1647	c.1415C>T	c.(1414-1416)gCc>gTc	p.A472V	RET_ENST00000340058.5_Missense_Mutation_p.A472V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	472					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GACACCAAGGCCCTGCGGCGG	0.612000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				17	77					0	0	1	0	0
MAGEB10	139422	broad.mit.edu	37	X	27839927	27839927	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:27839927G>A	ENST00000356790.2	+	3	749	c.504G>A	c.(502-504)ctG>ctA	p.L168L		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	168	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GTCTTGACCTGAAGGAAGTGG	0.473000													25	31					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763639	113763639	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:113763639C>T	ENST00000259211.6	+	2	510	c.99C>T	c.(97-99)gtC>gtT	p.V33V		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	33					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TCATAGCAGTCCCGAGGAAGG	0.512000													11	22					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1994041	1994041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:1994041C>T	ENST00000382722.5	-	11	1527	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E325K|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E305K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E389K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E325K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E389K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	389	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCTTGGCCTCTTGGAACTGT	0.612000													6	16					0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763697	20763697	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:20763697C>T	ENST00000382844.1	-	1	222	c.24G>A	c.(22-24)acG>acA	p.T8T	GJB2_ENST00000382848.4_Silent_p.T8T			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	8					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCCCCAGGATCGTCTGCAGCG	0.512000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	24					0	0	1	0	0
KIF17	57576	broad.mit.edu	37	1	21009370	21009370	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:21009370G>A	ENST00000247986.2	-	11	2549	c.2239C>T	c.(2239-2241)Ctg>Ttg	p.L747L	KIF17_ENST00000400463.3_Silent_p.L747L|KIF17_ENST00000375044.1_Silent_p.L647L|KIF17_ENST00000490034.1_5'UTR			Q9P2E2	KIF17_HUMAN	kinesin family member 17	747					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TGCTCCAACAGCTGCAGACTG	0.612000													14	34					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116414988	116414988	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:116414988C>T	ENST00000397752.3	+	15	3282	c.3082C>T	c.(3082-3084)Ctg>Ttg	p.L1028L	MET_ENST00000318493.6_Silent_p.L1046L	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1028					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCAGTATCCTCTGACAGACAT	0.408000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				37	44					0	0	1	0	0
ARMS2	387715	broad.mit.edu	37	10	124214456	124214456	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124214456C>T	ENST00000528446.1	+	1	288	c.213C>T	c.(211-213)atC>atT	p.I71I		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	71					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGCTAAAATCCACACTGAGC	0.532000													12	42					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265585	39265585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:39265585G>A	ENST00000280481.7	+	1	4320	c.4104G>A	c.(4102-4104)atG>atA	p.M1368I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1368					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)		CACTGGGCATGAATTTTACCC	0.393000													28	17					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44605131	44605131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:44605131C>T	ENST00000266534.3	+	5	696	c.569C>T	c.(568-570)gCt>gTt	p.A190V	TMEM117_ENST00000536799.1_Missense_Mutation_p.A86V|TMEM117_ENST00000551577.1_Missense_Mutation_p.A190V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	190						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TCAGCAAGAGCTTTCTGGAAG	0.388000													8	37					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143806753	143806753	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143806753C>T	ENST00000408979.2	+	1	147	c.78C>T	c.(76-78)ctC>ctT	p.L26L		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CGATTCTCCTCTGTGGACTCT	0.512000													28	81					0	0	1	0	0
CCL15	6359	broad.mit.edu	37	17	34325917	34325917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:34325917G>A	ENST00000354059.4	-	2	673	c.121C>T	c.(121-123)Cca>Tca	p.P41S	CCL15-CCL14_ENST00000481427.2_Missense_Mutation_p.P41S|CCL14_ENST00000536149.1_5'UTR	NM_032965.4	NP_116741.1	Q16663	CCL15_HUMAN	chemokine (C-C motif) ligand 15	41					cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity	p.P41S(1)		large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAACTACTGGATTTTCCAGT	0.438000													8	36					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6190745	6190745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6190745G>A	ENST00000530810.1	-	1	893	c.812C>T	c.(811-813)cCt>cTt	p.P271L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACATGTTGAGGAATATTACG	0.458000													28	27					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241706377	241706377	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:241706377C>T	ENST00000498729.2	-	19	1885	c.1639G>A	c.(1639-1641)Gag>Aag	p.E547K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E538K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	538	FHA.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CAGTGCTCCTCCTTGATGAAG	0.647000													5	7					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87196275	87196275	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87196275C>T	ENST00000265724.3	-	7	773	c.356G>A	c.(355-357)aGt>aAt	p.S119N	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	119	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	ACCAATTCCACTGTAATAATA	0.393000													22	32					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8100445	8100445	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:8100445C>T	ENST00000379328.3	+	3	987	c.419C>T	c.(418-420)tCc>tTc	p.S140F	GATA3_ENST00000346208.3_Missense_Mutation_p.S140F|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	140	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCGTCCTCCTCCTTGTCGGGG	0.721000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						24	67					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11648297	11648297	+	Missense_Mutation	SNP	C	C	T	rs149674795		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11648297C>T	ENST00000262442.3	+	31	6363	c.6295C>T	c.(6295-6297)Ccc>Tcc	p.P2099S	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2099S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2099					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P2099S(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGACCTCTTTCCCGCCCTGGA	0.557000													47	16					0	0	1	0	0
TAF7L	54457	broad.mit.edu	37	X	100547833	100547833	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:100547833C>T	ENST00000372907.3	-	1	212	c.201G>A	c.(199-201)gcG>gcA	p.A67A	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	67					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CGCTGCTGTCCGCATCCGTTT	0.577000													38	36					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101756703	101756703	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:101756703G>A	ENST00000251127.6	-	25	2913	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	944						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGTTGGAGTGAAAAATAAGC	0.368000													14	42					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56226516	56226516	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56226516G>A	ENST00000332836.2	-	6	2433	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	802						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GATCGAGGAGGGACAGGGACT	0.547000													15	52					0	0	1	0	0
NXF2	56001	broad.mit.edu	37	X	101581400	101581400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:101581400C>T	ENST00000395088.2	+	34	3725	c.1853C>T	c.(1852-1854)cCc>cTc	p.P618L	NXF2_ENST00000372763.1_3'UTR|NXF2_ENST00000372757.1_Missense_Mutation_p.P618L|NXF2_ENST00000372758.1_Missense_Mutation_p.P618L|NXF2_ENST00000330252.5_Missense_Mutation_p.P618L			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2	618	TAP-C.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|RNA binding			endometrium(2)|lung(2)	4						GGCAAGATCCCCGCAGAGGCC	0.507000													16	88					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34922706	34922706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:34922706C>T	ENST00000356577.4	+	3	1644	c.1169C>T	c.(1168-1170)tCc>tTc	p.S390F	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.S390F|SON_ENST00000290239.6_Missense_Mutation_p.S390F|SON_ENST00000381679.4_Missense_Mutation_p.S390F	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	390					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCTGCGACCTCCATGCCGGAG	0.662000													26	60					0	0	1	0	0
DPH2	1802	broad.mit.edu	37	1	44437138	44437138	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:44437138C>T	ENST00000255108.3	+	4	736	c.564C>T	c.(562-564)tcC>tcT	p.S188S	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_Silent_p.S53S|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	188					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CAGTGGGTTCCCTGAGTCCAG	0.602000													14	24					0	0	1	0	0
HCRT	3060	broad.mit.edu	37	17	40336478	40336478	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40336478C>T	ENST00000293330.1	-	2	176	c.90G>A	c.(88-90)ggG>ggA	p.G30G		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	30					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle				breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		GTGCAGCCGCCCCGGACGACA	0.701000													5	12					0	0	1	0	0
TMEM213	155006	broad.mit.edu	37	7	138487709	138487709	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138487709C>T	ENST00000442682.2	+	3	372	c.219C>T	c.(217-219)atC>atT	p.I73I	TMEM213_ENST00000397602.3_Silent_p.I72I|TMEM213_ENST00000458494.1_Silent_p.I49I|TMEM213_ENST00000413208.1_Intron|TMEM213_ENST00000422794.2_Silent_p.I123I	NM_001085429.1	NP_001078898.1	A2RRL7	TM213_HUMAN	transmembrane protein 213	73						integral to membrane		p.I73I(2)		breast(1)|endometrium(3)|kidney(1)|lung(1)	6						ACGGCTGGATCGCGGCAGCTG	0.607000													9	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594115	179594115	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179594115G>A	ENST00000589042.1	-	64	18992	c.18768C>T	c.(18766-18768)ctC>ctT	p.L6256L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L5012L|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.L5939L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5939							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTATATGGAGGTTAAACA	0.468000													25	68					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32605317	32605317	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32605317G>A	ENST00000343139.5	+	1	184	c.82_splice	c.e1+1	p.A28_splice	HLA-DQA1_ENST00000395363.1_Splice_Site_p.A28_splice|HLA-DQA1_ENST00000374949.2_Splice_Site_p.A28_splice	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	28	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGACATTGTGGGTGAGTGCAT	0.493000													6	15					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104111584	104111584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:104111584G>A	ENST00000388887.2	+	44	4852	c.4648G>A	c.(4648-4650)Gga>Aga	p.G1550R		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1550	EGF-like 13.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACTGGAGATGGAAAGGTCTG	0.532000													100	10					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10944671	10944671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10944671G>A	ENST00000298232.7	-	10	876	c.509C>T	c.(508-510)cCc>cTc	p.P170L	TPTE_ENST00000342420.5_Missense_Mutation_p.P150L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P188L	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	188					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)		TTCATACCTGGGAATATTCCT	0.289000													18	255					0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17100582	17100582	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17100582C>T	ENST00000443236.1	-	13	1439		c.e13-1		CPAMD8_ENST00000388925.4_Intron	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8							extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TCACCTTGGTCTGAGAAGAGA	0.582000													9	24					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42875633	42875633	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42875633A>G	ENST00000334370.4	+	40	7702	c.7068_splice	c.e40+1	p.Q2356_splice	MEGF8_ENST00000251268.6_Splice_Site_p.Q2423_splice|MEGF8_ENST00000378073.4_Intron	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2423						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TACAAGTACCAGGTGCGGCTG	0.617000													26	36					0	0	1	0	0
GTF2IRD1P1	729156	broad.mit.edu	37	7	66296199	66296199	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:66296199C>T	ENST00000457166.1	-	0	667					NR_003934.1																						GCATCTCCATCCCACAATCAG	0.567000													13	50					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103412505	103412505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:103412505G>A	ENST00000358392.2	-	42	3529	c.3212C>T	c.(3211-3213)cCa>cTa	p.P1071L	COL11A1_ENST00000353414.4_Missense_Mutation_p.P1020L|COL11A1_ENST00000370096.3_Missense_Mutation_p.P1059L|COL11A1_ENST00000512756.1_Missense_Mutation_p.P943L	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1059	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACGTTCTCCTGGTGAGCCCTA	0.463000													9	6					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79313631	79313631	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:79313631C>T	ENST00000305089.3	-	4	264		c.e4-1			NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta						cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GGCAATAGAGCTGTTGGAGAA	0.498000													35	58					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19067875	19067875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:19067875C>T	ENST00000421369.3	+	14	2111	c.1553C>T	c.(1552-1554)tCg>tTg	p.S518L	TMC7_ENST00000569532.1_Missense_Mutation_p.S628L|TMC7_ENST00000304381.5_Missense_Mutation_p.S628L	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	628						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATCCCTTCCTCGAAAGCCTGT	0.577000													22	31					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54687108	54687108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54687108C>T	ENST00000540264.2	-	2	681	c.172G>A	c.(172-174)Gga>Aga	p.G58R	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Missense_Mutation_p.G58R|NFE2_ENST00000553070.1_Missense_Mutation_p.G58R|NFE2_ENST00000435572.2_Missense_Mutation_p.G58R			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	58	Required for interaction with MAPK8 (By similarity).|Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGTGGAGGTCCAAGGTATGGA	0.532000													50	51					0	0	1	0	0
SNPH	9751	broad.mit.edu	37	20	1286066	1286066	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:1286066C>T	ENST00000381867.1	+	7	1627	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	SNPH_ENST00000381873.3_Missense_Mutation_p.P285S			O15079	SNPH_HUMAN	syntaphilin	285					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CGGCCTGGGCCCCCGCTTCCC	0.657000													10	46					0	0	1	0	0
KLF12	11278	broad.mit.edu	37	13	74387374	74387374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:74387374C>T	ENST00000377669.2	-	4	747	c.721G>A	c.(721-723)Gat>Aat	p.D241N	KLF12_ENST00000377666.4_Missense_Mutation_p.D241N|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	241					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		TCATCATCATCACTGTCACTT	0.428000													13	43					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104385666	104385666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:104385666C>T	ENST00000361820.3	-	5	3148	c.2548G>A	c.(2548-2550)Gat>Aat	p.D850N		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	850					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ACTTCATAATCCAGAAGGGCT	0.398000													13	27					0	0	1	0	0
GPN3	51184	broad.mit.edu	37	12	110891655	110891655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:110891655G>A	ENST00000543199.1	-	7	886	c.802C>T	c.(802-804)Cga>Tga	p.R268*	GPN3_ENST00000228827.3_Nonsense_Mutation_p.R229*|GPN3_ENST00000537466.2_Nonsense_Mutation_p.R239*	NM_001164372.1	NP_001157844.1	Q9UHW5	GPN3_HUMAN	GPN-loop GTPase 3	229						protein complex	GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|urinary_tract(1)	8						GGTAAAAATCGAACCATGCTG	0.313000													6	30					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984916	140984916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140984916G>A	ENST00000298296.1	+	7	1372	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	MAGEC3_ENST00000536088.1_Missense_Mutation_p.E160K|MAGEC3_ENST00000443323.2_Missense_Mutation_p.E80K|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E160K|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E160K|MAGEC3_ENST00000483584.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	458	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCCTGGATGAAAAGGTGGC	0.483000													24	30					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884786	228884786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228884786C>T	ENST00000392056.3	-	7	830	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E262K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	262						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGCCACTTTTCCTTGTTGCAA	0.378000													40	44					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801717	185801717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:185801717C>T	ENST00000302277.6	+	4	2188	c.1594C>T	c.(1594-1596)Ctc>Ttc	p.L532F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	532						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGATGATATTCTCTCCAGTAG	0.343000													9	23					0	0	1	0	0
FCRL6	343413	broad.mit.edu	37	1	159784050	159784050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159784050C>T	ENST00000321935.6	+	9	1222	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	FCRL6_ENST00000392235.3_Missense_Mutation_p.S277F|FCRL6_ENST00000368106.3_Missense_Mutation_p.S372F|FCRL6_ENST00000339348.5_Missense_Mutation_p.S372F			Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	372						integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					GTTGTCTACTCTGTGGTGCAT	0.448000													64	23					0	0	1	0	0
ATP9B	374868	broad.mit.edu	37	18	77089262	77089262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:77089262C>T	ENST00000426216.2	+	16	1912	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	ATP9B_ENST00000307671.7_Missense_Mutation_p.P632L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	632					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CAGCTGTTTCCCTTCACCTCC	0.592000													23	34					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6015474	6015474	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:6015474G>A	ENST00000259569.5	-	1	144	c.134C>T	c.(133-135)cCa>cTa	p.P45L	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	45					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ACACAGACCTGGGATATTTTC	0.468000													24	38					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100681099	100681099	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100681099C>T	ENST00000306151.4	+	3	6466	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2134	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCCTGTGATCACTTCTACTG	0.473000													131	209					0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49063532	49063532	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:49063532C>T	ENST00000376265.2	-	44	5259	c.5198G>A	c.(5197-5199)gGa>gAa	p.G1733E	CACNA1F_ENST00000376251.1_Missense_Mutation_p.G1668E|CACNA1F_ENST00000323022.5_Missense_Mutation_p.G1722E	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1733					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTGAGAATTTCCTTCTTCTGG	0.547000													8	2					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3979426	3979426	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:3979426G>A	ENST00000309311.6	-	11	1702	c.1614C>T	c.(1612-1614)atC>atT	p.I538I		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	538						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGACTCCTCGATGATGCACT	0.642000													35	45					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169828506	169828506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169828506G>A	ENST00000263817.6	-	14	1613	c.1489C>T	c.(1489-1491)Cag>Tag	p.Q497*		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	497	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	ATCCCAATCTGATCTCTAAGC	0.458000													6	28					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515917	140515917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140515917C>T	ENST00000231134.5	+	1	1118	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		301	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCAGAAATTCGCCTGAAAAG	0.438000													17	100					0	0	1	0	0
OR10J3	441911	broad.mit.edu	37	1	159283485	159283485	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159283485G>A	ENST00000332217.5	-	1	964	c.965C>T	c.(964-966)tCc>tTc	p.S322F		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAACGCAAAGGAAAAGCCTTC	0.388000													53	57					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325038	150325038	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150325038C>T	ENST00000328902.5	-	3	864	c.648G>A	c.(646-648)atG>atA	p.M216I	GIMAP6_ENST00000493969.1_3'UTR	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	216							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAACTTTCTCCATGAGCTCTC	0.527000													45	127					0	0	1	0	0
DYDC1	143241	broad.mit.edu	37	10	82098173	82098173	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:82098173C>T	ENST00000421924.2	-	6	965	c.554G>A	c.(553-555)tGa>tAa	p.*185*	DYDC1_ENST00000372202.1_Intron|DYDC1_ENST00000372204.3_Intron			Q8WWB3	DYDC1_HUMAN	DPY30 domain containing 1	0										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			Taaaaaaaatcaaaaacaaaa	0.383000													8	8					0	0	1	0	0
GPX6	257202	broad.mit.edu	37	6	28472261	28472261	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28472261C>T	ENST00000474923.1	-	4	417	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	GPX6_ENST00000361902.1_Silent_p.P158P			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	24					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	GATCAGAGGTCGGAGGGCAGG	0.443000													12	54					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46802451	46802451	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46802451G>A	ENST00000230588.4	+	12	1755	c.1746G>A	c.(1744-1746)ctG>ctA	p.L582L		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	582	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GGAGTTTCCTGAAAAATGATG	0.413000													12	74					0	0	1	0	0
BMP1	649	broad.mit.edu	37	8	22056874	22056874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:22056874C>T	ENST00000397816.3	+	16	2666	c.2447C>T	c.(2446-2448)aCc>aTc	p.T816I	BMP1_ENST00000354870.5_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000306349.8_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACCCCTGCCACCTTCCGGGGC	0.617000													39	37					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50531107	50531107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50531107C>T	ENST00000374144.3	+	3	805	c.517C>T	c.(517-519)Cct>Tct	p.P173S	C10orf71_ENST00000323868.4_Missense_Mutation_p.P173S			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	173										endometrium(1)	1						TCTGAAAAATCCTCCCAAATT	0.502000													7	27					0	0	1	0	0
C11orf70	85016	broad.mit.edu	37	11	101946634	101946634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:101946634G>A	ENST00000434758.2	+	5	494	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	C11orf70_ENST00000526781.1_Missense_Mutation_p.E156K|C11orf70_ENST00000534360.1_Silent_p.*100*	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	156								p.E118*(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAAAATATGAAATATTCAG	0.343000													9	17					0	0	1	0	0
OR2A5	393046	broad.mit.edu	37	7	143747551	143747551	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143747551C>T	ENST00000408906.2	+	1	91	c.57C>T	c.(55-57)agC>agT	p.S19S		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TTCCACTCAGCCTAAGGATTC	0.517000													44	52					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61562542	61562542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:61562542G>A	ENST00000457692.1	+	4	546	c.213G>A	c.(211-213)atG>atA	p.M71I	SERPINB2_ENST00000299502.4_Missense_Mutation_p.M71I|SERPINB2_ENST00000482254.1_3'UTR	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	71					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTACCCCCATGACTCCAGAGA	0.443000													36	38					0	0	1	0	0
C1QB	713	broad.mit.edu	37	1	22987483	22987483	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:22987483C>T	ENST00000509305.1	+	3	706	c.360C>T	c.(358-360)atC>atT	p.I120I	C1QB_ENST00000314933.6_Silent_p.I122I			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	122	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGAAAATCGCCTTCTCTG	0.617000													64	9					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38917246	38917246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:38917246G>A	ENST00000359357.3	+	79	11751	c.11497G>A	c.(11497-11499)Ggg>Agg	p.G3833R	DNAH8_ENST00000449981.2_Missense_Mutation_p.G4050R|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.G3797R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TAATGAGAAGGGGTGGAAAAG	0.373000													26	153					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813294	106813294	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:106813294C>T	ENST00000407775.2	+	8	1234	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ZFPM2_ENST00000517361.1_Silent_p.F196F|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.F59F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.F196F|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	328					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGGAAGAATTCCTGCCCCCTG	0.428000													74	46					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103871	53103871	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53103871C>T	ENST00000408890.4	+	1	523	c.507C>T	c.(505-507)ctC>ctT	p.L169L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	169										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						cccAGGAGCTCCTGGACCCCT	0.711000													10	34					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54263408	54263408	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:54263408C>T	ENST00000354646.2	-	20	5029	c.4591G>A	c.(4591-4593)Gag>Aag	p.E1531K	WNK3_ENST00000375159.2_Missense_Mutation_p.E1531K|WNK3_ENST00000375169.3_Missense_Mutation_p.E1484K	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1484					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCAAGTCCTCATCCTCTATT	0.408000													84	11					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459360	141459360	+	Silent	SNP	C	C	T	rs139951414	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141459360C>T	ENST00000389484.3	-	40	7328	c.6357G>A	c.(6355-6357)acG>acA	p.T2119T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2119					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATGGTTATCGTTTCTGTGG	0.413000										TSP Lung(27;0.18)			15	33					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39875835	39875835	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:39875835G>A	ENST00000260356.5	+	4	810	c.645G>A	c.(643-645)gtG>gtA	p.V215V		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	215	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGCAGAATGTGAGGTTTGTCT	0.532000											OREG0023051	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	106					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179647313	179647313	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179647313T>A	ENST00000589042.1	-	19	3341	c.3117A>T	c.(3115-3117)gaA>gaT	p.E1039D	TTN_ENST00000342992.6_Missense_Mutation_p.E1039D|TTN_ENST00000460472.2_Missense_Mutation_p.E993D|TTN_ENST00000359218.5_Missense_Mutation_p.E993D|TTN_ENST00000342175.6_Missense_Mutation_p.E993D|TTN_ENST00000360870.5_Missense_Mutation_p.E1039D|TTN_ENST00000591111.1_Missense_Mutation_p.E1039D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1039							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTTCCTTTTCAAATTCTT	0.358000													7	14					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	10996525	10996525	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:10996525C>T	ENST00000324288.8	+	8	772	c.639C>T	c.(637-639)tcC>tcT	p.S213S	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Silent_p.S164S	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	213					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TGCCTTTCTCCAGTTCCTCGT	0.527000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								12	43					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103577	53103577	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53103577G>A	ENST00000408890.4	+	1	229	c.213G>A	c.(211-213)ccG>ccA	p.P71P		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	71										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGGCGCCCGGTGCCCAGCA	0.716000													24	25					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20959876	20959876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20959876C>T	ENST00000261383.3	-	57	11271	c.11272G>A	c.(11272-11274)Gaa>Aaa	p.E3758K	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3758					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCTCAATTTCCTTACAGTAG	0.532000													22	19					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48371337	48371337	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48371337C>T	ENST00000395702.2	+	2	1032	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	ZNF488_ENST00000586537.1_Silent_p.L162L|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						CCTCACCTCCCTGGGCTTGTC	0.607000													19	41					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786421	121786421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:121786421G>A	ENST00000261367.7	+	12	3448	c.2020G>A	c.(2020-2022)Gaa>Aaa	p.E674K	SNCAIP_ENST00000261368.8_Missense_Mutation_p.E627K|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E674K|SNCAIP_ENST00000542191.1_Missense_Mutation_p.E185K|SNCAIP_ENST00000414317.2_Missense_Mutation_p.E229K|SNCAIP_ENST00000379538.3_Missense_Mutation_p.E261K|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000379536.2_Missense_Mutation_p.E567K|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	627					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		ATTGGGAAAGGAAATCTCAGA	0.458000													24	16					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2598251	2598251	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2598251C>T	ENST00000570628.1	-	16	2740	c.2635G>A	c.(2635-2637)Ggg>Agg	p.G879R	CLUH_ENST00000575014.1_Missense_Mutation_p.G812R|CLUH_ENST00000435359.1_Missense_Mutation_p.G879R|CLUH_ENST00000538975.1_Missense_Mutation_p.G879R					clustered mitochondria (cluA/CLU1) homolog																		TCTGCAGCCCCCGGGGGCCGG	0.602000													5	17					0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190925138	190925138	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:190925138C>T	ENST00000260950.4	-	2	529	c.397G>A	c.(397-399)Gga>Aga	p.G133R	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	133					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTGGGTTTTCCATCCACTTGC	0.328000													6	23					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20552460	20552460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:20552460G>A	ENST00000504154.1	+	25	2752	c.2500G>A	c.(2500-2502)Gga>Aga	p.G834R	SLIT2_ENST00000503823.1_Missense_Mutation_p.G826R|SLIT2_ENST00000273739.5_Missense_Mutation_p.G838R|SLIT2_ENST00000503837.1_Missense_Mutation_p.G830R|SLIT2_ENST00000509394.2_3'UTR	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	834					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTCTCTACATGGAAATGACAT	0.328000													9	20					0	0	1	0	0
S100A7L2	645922	broad.mit.edu	37	1	153410677	153410677	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153410677G>A	ENST00000368725.2	-	2	161	c.162C>T	c.(160-162)ttC>ttT	p.F54F		NM_001045479.1	NP_001038944.2			S100 calcium binding protein A7-like 2											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCACTGAGGAAGTTGGGGA	0.522000													15	51					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97078132	97078132	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:97078132G>A	ENST00000371247.2	-	32	3945	c.3756C>T	c.(3754-3756)ctC>ctT	p.L1252L	SORBS1_ENST00000354106.3_Silent_p.L964L|SORBS1_ENST00000371246.2_Silent_p.L1111L|SORBS1_ENST00000607232.1_Silent_p.L1254L|SORBS1_ENST00000371239.1_Silent_p.L771L|SORBS1_ENST00000371227.4_Silent_p.L1226L|SORBS1_ENST00000353505.5_Silent_p.L865L|SORBS1_ENST00000347291.4_Silent_p.L806L|SORBS1_ENST00000393949.1_Silent_p.L964L|SORBS1_ENST00000371249.2_Silent_p.L776L|SORBS1_ENST00000277982.5_Silent_p.L1111L|SORBS1_ENST00000371241.1_Silent_p.L644L|SORBS1_ENST00000306402.6_Silent_p.L741L|SORBS1_ENST00000371245.3_Silent_p.L865L|SORBS1_ENST00000361941.3_Silent_p.L1252L			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1252	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTCCATCGCGGAGTTCCAACT	0.358000													49	20					0	0	1	0	0
SEMG2	6407	broad.mit.edu	37	20	43851398	43851398	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43851398G>A	ENST00000372769.3	+	2	1215	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	375	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GCAGTATTTCGATCCAAACTG	0.373000													6	37					0	0	1	0	0
RARRES3	5920	broad.mit.edu	37	11	63313646	63313646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63313646G>A	ENST00000255688.3	+	4	461	c.413G>A	c.(412-414)gGt>gAt	p.G138D	RARRES3_ENST00000354445.2_Missense_Mutation_p.G138D|RARRES3_ENST00000537871.1_3'UTR	NM_004585.3	NP_004576.2	Q9UL19	TIG3_HUMAN	retinoic acid receptor responder (tazarotene induced) 3	138					lipid catabolic process|negative regulation of cell proliferation		hydrolase activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	6						GTTGAAGTTGGTGTGGCCACG	0.527000													112	148					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140811979	140811979	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140811979C>T	ENST00000252085.3	+	1	1795	c.1653C>T	c.(1651-1653)ttC>ttT	p.F551F	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCCTGTTCGTGCTGGACC	0.652000													30	127					0	0	1	0	0
PCP4	5121	broad.mit.edu	37	21	41300978	41300978	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:41300978T>G	ENST00000328619.5	+	3	316	c.131T>G	c.(130-132)gTg>gGg	p.V44G	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	44	IQ.				central nervous system development	cytosol|nucleus				large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				CGTGCAGCGGTGGCCATTCAG	0.463000													27	30					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523166	23523166	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23523166T>C	ENST00000305877.8	+	1	770	c.19T>C	c.(19-21)Ttc>Ctc	p.F7L	BCR_ENST00000359540.3_Missense_Mutation_p.F7L|BCR_ENST00000398512.5_Missense_Mutation_p.F7L	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	7	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCGGTGGGCTTCGCGGAGGC	0.771000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								11	12					0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789788	26789788	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26789788C>T	ENST00000376236.4	+	5	656	c.201C>T	c.(199-201)ctC>ctT	p.L67L	APBB1IP_ENST00000356785.4_Silent_p.L67L	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	67					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TAGATGCTCTCATGGCAGATC	0.413000													13	62					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31332834	31332834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:31332834G>A	ENST00000544665.3	+	16	1962	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	ITGAM_ENST00000287497.8_Missense_Mutation_p.E630K	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	630					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CAATCCCAGGGAAGTGGCAAG	0.502000													133	87					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15811070	15811070	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:15811070T>C	ENST00000338282.6	-	38	5537	c.5431A>G	c.(5431-5433)Aag>Gag	p.K1811E	NDE1_ENST00000396354.1_Intron|MYH11_ENST00000576790.1_Missense_Mutation_p.K1811E|MYH11_ENST00000452625.2_Missense_Mutation_p.K1818E|MYH11_ENST00000300036.5_Missense_Mutation_p.K1811E|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.K1818E|NDE1_ENST00000396355.1_Intron	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1811					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GACTTGAACTTGGACTTGACG	0.632000			T	CBFB	AML								23	58					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31595132	31595132	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31595132G>A	ENST00000379416.3	-	17	1866	c.1818C>T	c.(1816-1818)ctC>ctT	p.L606L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	606					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TGACCAGCCGGAGAGACAGCT	0.652000													45	286					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86252057	86252057	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:86252057G>A	ENST00000370571.2	-	48	4405	c.4039C>T	c.(4039-4041)Cca>Tca	p.P1347S	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1347S	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1347	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TGAATTCCTGGGCTTCCTGGC	0.502000													70	6					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5073877	5073877	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5073877C>T	ENST00000574788.1	+	36	5851	c.3621C>T	c.(3619-3621)ctC>ctT	p.L1207L	USP6_ENST00000304328.5_Silent_p.L890L|USP6_ENST00000250066.6_Silent_p.L1207L|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1207					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGGGAGGCTCCGGCTGCCCC	0.532000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								37	12					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110482075	110482075	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:110482075C>T	ENST00000260283.4	-	8	950	c.666G>A	c.(664-666)gcG>gcA	p.A222A	ARHGAP20_ENST00000527598.1_Silent_p.A186A|ARHGAP20_ENST00000533353.1_Silent_p.A196A|ARHGAP20_ENST00000528829.1_Silent_p.A186A|ARHGAP20_ENST00000524756.1_Silent_p.A199A|ARHGAP20_ENST00000357139.3_Silent_p.A196A	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	222	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TAACTTCATTCGCTGTATCTG	0.229000													6	10					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32813462	32813462	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:32813462G>A	ENST00000380250.3	+	45	6988	c.6492G>A	c.(6490-6492)aaG>aaA	p.K2164K		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGTTCTGTAAGGATATAGCCG	0.453000													14	35					0	0	1	0	0
MCTP2	55784	broad.mit.edu	37	15	94841751	94841751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:94841751G>A	ENST00000357742.4	+	1	257	c.257G>A	c.(256-258)gGg>gAg	p.G86E	MCTP2_ENST00000543482.1_Missense_Mutation_p.G86E|MCTP2_ENST00000451018.3_Missense_Mutation_p.G86E|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	86					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCCACTGCAGGGATCTTTCCC	0.577000													22	84					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246584	80246584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:80246584C>T	ENST00000286794.4	-	1	620	c.448G>A	c.(448-450)Gat>Aat	p.D150N	NAA11_ENST00000513733.1_5'UTR	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	150	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TGCGAGAGATCCCGCTTCATA	0.522000													26	41					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141730444	141730444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141730444C>T	ENST00000475668.2	+	12	1411	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S	MGAM_ENST00000549489.2_Missense_Mutation_p.P453S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	453	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTTAGGATCCAGCCATCTC	0.463000													27	43					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55050430	55050430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:55050430G>A	ENST00000371316.3	+	2	218	c.136G>A	c.(136-138)Gag>Aag	p.E46K	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.E46K	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	46	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						GAACCCCACGGAGGTGCAGAT	0.627000													21	5					0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7411738	7411738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7411738C>T	ENST00000322644.6	+	20	3808	c.3409C>T	c.(3409-3411)Cct>Tct	p.P1137S		NM_000937.4	NP_000928.1	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1137					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GCCAAAGACTCCTTCGCTTAC	0.522000													4	11					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51464851	51464851	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:51464851G>A	ENST00000374095.5	-	7	1730	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	535	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CTTCCCTCGTGGACTTTTCTG	0.552000													82	43					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150072457	150072457	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:150072457C>T	ENST00000199814.4	-	10	1253	c.1132_splice	c.e10+1	p.G378_splice	RBM22_ENST00000447771.2_Splice_Site_p.G329_splice|RBM22_ENST00000540000.1_Splice_Site_p.G329_splice	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	378	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGAAGTTACCTGGGGGTGGG	0.517000													30	95					0	0	1	0	0
FAM188B	84182	broad.mit.edu	37	7	30931614	30931614	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:30931614C>T	ENST00000265299.6	+	18	2345	c.2268C>T	c.(2266-2268)atC>atT	p.I756I	AQP1_ENST00000434909.2_Intron|INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Intron	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	756										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGACCCCATCCTGTGACCGT	0.557000													174	93					0	0	1	0	0
PCDH17	27253	broad.mit.edu	37	13	58208178	58208178	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:58208178G>A	ENST00000377918.3	+	1	1524	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	500	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCAGGATCCCGACCTGGGCCA	0.602000													9	30					0	0	1	0	0
BANK1	55024	broad.mit.edu	37	4	102951398	102951398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:102951398G>A	ENST00000504592.1	+	14	2249	c.1831G>A	c.(1831-1833)Gaa>Aaa	p.E611K	BANK1_ENST00000444316.2_Missense_Mutation_p.E596K|BANK1_ENST00000322953.4_Missense_Mutation_p.E626K|BANK1_ENST00000428908.1_Missense_Mutation_p.E493K|RP11-498M5.2_ENST00000505091.1_RNA|BANK1_ENST00000508653.1_Missense_Mutation_p.E493K			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	626					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCCAAAAGAGGAAACTACACC	0.398000													31	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179587193G>A	ENST00000589042.1	-	77	22545	c.22321C>T	c.(22321-22323)Cga>Tga	p.R7441*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7124	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418000													28	56					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69666580	69666580	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:69666580C>T	ENST00000370598.1	+	8	2225	c.1404C>T	c.(1402-1404)tcC>tcT	p.S468S		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	468	TSP type-1 4.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTGGTTGTTCCAAGTCCTGTG	0.473000													17	63					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784640	151784640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:151784640C>T	ENST00000255262.3	-	1	200	c.35G>A	c.(34-36)tGg>tAg	p.W12*	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	12					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGGTAGATCCAGGAAGCATT	0.502000													26	93					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054788	29054788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29054788G>A	ENST00000377173.2	-	1	302	c.238C>T	c.(238-240)Cat>Tat	p.H80Y		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACCAACATATGAGGGACTGTA	0.448000													16	81					0	0	1	0	0
CPNE6	9362	broad.mit.edu	37	14	24546584	24546584	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24546584C>T	ENST00000397016.2	+	16	1832	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	CPNE6_ENST00000216775.2_Silent_p.F507F|CPNE6_ENST00000537691.1_Silent_p.F562F			O95741	CPNE6_HUMAN	copine VI (neuronal)	507	VWFA.				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		TCGTGCCCTTCCGAGACTTCA	0.617000													37	43					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232320841	232320841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:232320841G>A	ENST00000322723.4	-	12	1952	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	571					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CAGAGTTTTGGATGGCTCTGG	0.433000													10	23					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49714469	49714469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49714469C>T	ENST00000252826.5	+	24	3709	c.3583C>T	c.(3583-3585)Cgc>Tgc	p.R1195C	TRPM4_ENST00000355712.5_Missense_Mutation_p.R841C|TRPM4_ENST00000427978.2_Missense_Mutation_p.R1050C	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1195					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGCCCTGAGCCGCTCTGCCTT	0.667000													4	10					0	0	1	0	0
SFTA3	253970	broad.mit.edu	37	14	36946243	36946243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:36946243C>T	ENST00000518529.2	-	3	869	c.194G>A	c.(193-195)gGa>gAa	p.G65E	SFTA3_ENST00000518987.1_Intron|RP11-896J10.3_ENST00000521945.1_RNA	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	65										breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						ATGGACTGTTCCTGGACTTGG	0.517000													73	75					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484930	43484930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:43484930C>T	ENST00000395891.1	+	11	2764	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	HECW1_ENST00000453890.1_Missense_Mutation_p.S720F	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	720					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACGCGCTTCTCCTCCGTGGAC	0.622000													21	121					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80303448	80303448	+	Silent	SNP	G	G	A	rs141626483	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:80303448G>A	ENST00000435819.1	+	17	2088	c.1404G>A	c.(1402-1404)tcG>tcA	p.S468S	CD36_ENST00000534394.1_Silent_p.S392S|CD36_ENST00000433696.2_Silent_p.S429S|CD36_ENST00000394788.3_Silent_p.S468S|CD36_ENST00000538969.1_Silent_p.S408S|CD36_ENST00000447544.2_Silent_p.S468S|CD36_ENST00000432207.1_Silent_p.S468S|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000309881.7_Silent_p.S468S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	468					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						CATGCAGATCGAAAACAATAA	0.294000													11	14					0	0	1	0	0
RPSAP58	388524	broad.mit.edu	37	19	24010564	24010564	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:24010564C>T	ENST00000496398.1	+	4	1024	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	RP11-255H23.4_ENST00000599944.1_lincRNA|RP11-255H23.2_ENST00000471224.1_RNA|RPSAP58_ENST00000354585.4_Silent_p.L201L																endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1)	10						CATGCCTGATCTGTACTTCTA	0.527000													7	11					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65931988	65931988	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:65931988T>G	ENST00000261892.6	+	4	2287	c.2000T>G	c.(1999-2001)aTc>aGc	p.I667S	SLC24A1_ENST00000546330.1_Missense_Mutation_p.I649S|SLC24A1_ENST00000544319.2_Intron|SLC24A1_ENST00000537259.1_Missense_Mutation_p.I649S|SLC24A1_ENST00000399033.4_Missense_Mutation_p.I667S|SLC24A1_ENST00000339868.6_Missense_Mutation_p.I649S	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	667					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						AACAGCACCATCCGCAGCACC	0.622000													5	10					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10920104	10920104	+	Missense_Mutation	SNP	C	C	T	rs142165446		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10920104C>T	ENST00000298232.7	-	18	1463	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	TPTE_ENST00000342420.5_Missense_Mutation_p.G346R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.G384R	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	384	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.G366*(1)|p.G384*(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTTTTACTCCCTGAAATTTT	0.378000													11	52					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30982813	30982813	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30982813C>T	ENST00000262519.8	+	13	3817	c.3131C>T	c.(3130-3132)tCc>tTc	p.S1044F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1044	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						tcctcatcctcctcctcctcc	0.552000													12	43					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	161020673	161020673	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:161020673G>A	ENST00000447678.1	-	21	3266	c.3146C>T	c.(3145-3147)cCc>cTc	p.P1049L	LPA_ENST00000316300.5_Missense_Mutation_p.P1049L	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3557	Kringle 10.				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)	CTGTACCCCGGGGGTTTCCTC	0.423000													39	39					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277683	140277683	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:140277683G>A	ENST00000458420.3	+	12	2215	c.2025G>A	c.(2023-2025)ggG>ggA	p.G675G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	675					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAGCCCCCGGGGACGTGAAAA	0.498000										HNSCC(16;0.037)			25	8					0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31432951	31432951	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:31432951G>A	ENST00000261592.5	-	11	2069	c.1772C>T	c.(1771-1773)tCc>tTc	p.S591F	NOL4_ENST00000538587.1_Missense_Mutation_p.S517F|NOL4_ENST00000535475.1_Missense_Mutation_p.S372F|NOL4_ENST00000589544.1_Missense_Mutation_p.S489F|NOL4_ENST00000535384.1_Missense_Mutation_p.S306F|NOL4_ENST00000269185.4_Missense_Mutation_p.S375F	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	591						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GCTGCTGGAGGATCCTGAGCT	0.428000													13	37					0	0	1	0	0
OSBPL2	9885	broad.mit.edu	37	20	60847299	60847299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60847299C>T	ENST00000313733.3	+	5	579	c.377C>T	c.(376-378)cCc>cTc	p.P126L	OSBPL2_ENST00000439951.2_Missense_Mutation_p.P34L|OSBPL2_ENST00000358053.2_Missense_Mutation_p.P114L	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	126					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			CAGCCCCAGCCCCTGGAGAGG	0.607000													17	81					0	0	1	0	0
LCE3E	353145	broad.mit.edu	37	1	152538541	152538541	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152538541G>A	ENST00000368789.1	-	2	199	c.144C>T	c.(142-144)tcC>tcT	p.S48S		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	48					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		AGCCGCCCTCGGAGCTAGGGC	0.662000													19	79					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089314	86089314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86089314C>T	ENST00000330753.4	+	2	2223	c.1456C>T	c.(1456-1458)Cga>Tga	p.R486*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.R486*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	486	Fibronectin type-III.		R -> Q (in dbSNP:rs17646457).		cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.R486R(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTTAGAGCCCCGATCCACCTA	0.522000													25	89					0	0	1	0	0
PDGFC	56034	broad.mit.edu	37	4	157732033	157732033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:157732033G>A	ENST00000502773.1	-	3	941	c.451C>T	c.(451-453)Cct>Tct	p.P151S	PDGFC_ENST00000542208.1_Intron|PDGFC_ENST00000422544.2_Missense_Mutation_p.P151S|PDGFC_ENST00000541126.1_5'UTR	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	151	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GGTTCAGAAGGAAAATATTCA	0.368000													31	30					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56089326	56089326	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56089326C>T	ENST00000257880.7	-	15	2334	c.2115G>A	c.(2113-2115)acG>acA	p.T705T	ITGA7_ENST00000257879.6_Silent_p.T661T|ITGA7_ENST00000553804.1_Silent_p.T665T|ITGA7_ENST00000347027.6_Silent_p.T655T|ITGA7_ENST00000452168.2_Silent_p.T568T|ITGA7_ENST00000394230.2_Silent_p.T665T|ITGA7_ENST00000394229.2_Silent_p.T661T|ITGA7_ENST00000555728.1_Silent_p.T705T			Q13683	ITA7_HUMAN	integrin, alpha 7	705					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTTGGAATTCCGTGTCGCTGA	0.597000													22	52					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022100	120022100	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:120022100G>A	ENST00000379551.2	+	3	899	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	PRR16_ENST00000446965.1_Missense_Mutation_p.R134Q|PRR16_ENST00000407149.2_Missense_Mutation_p.R204Q|PRR16_ENST00000505123.1_Missense_Mutation_p.R134Q	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	204	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCTCGAGAACGAGTTCGGTTT	0.468000													20	17					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74737299	74737299	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:74737299C>T	ENST00000370895.1	+	7	689	c.654C>T	c.(652-654)atC>atT	p.I218I	FPGT-TNNI3K_ENST00000370899.3_Silent_p.I218I|TNNI3K_ENST00000326637.3_Silent_p.I117I|FPGT-TNNI3K_ENST00000557284.1_Silent_p.I218I|TNNI3K_ENST00000370891.2_Silent_p.I218I			Q59H18	TNI3K_HUMAN		117						cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CAGAATTGATCACTTCTCTGC	0.428000													36	288					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62812737	62812737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:62812737C>T	ENST00000512091.1	+	15	3068	c.2321C>T	c.(2320-2322)tCt>tTt	p.S774F	LPHN3_ENST00000514996.1_Missense_Mutation_p.S774F|LPHN3_ENST00000508693.1_Missense_Mutation_p.S842F|LPHN3_ENST00000514591.1_Missense_Mutation_p.S774F|LPHN3_ENST00000509896.1_Missense_Mutation_p.S842F|LPHN3_ENST00000508946.1_Missense_Mutation_p.S774F|LPHN3_ENST00000507164.1_Missense_Mutation_p.S842F|LPHN3_ENST00000504896.1_Missense_Mutation_p.S774F|LPHN3_ENST00000506746.1_Missense_Mutation_p.S842F|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000506720.1_Missense_Mutation_p.S842F|LPHN3_ENST00000514157.1_Missense_Mutation_p.S774F|LPHN3_ENST00000507625.1_Missense_Mutation_p.S842F|LPHN3_ENST00000511324.1_Missense_Mutation_p.S842F|LPHN3_ENST00000506700.1_Missense_Mutation_p.S774F|LPHN3_ENST00000545650.1_Missense_Mutation_p.S774F			Q9HAR2	LPHN3_HUMAN	latrophilin 3	761					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACAAATCATTCTGTTATTGTC	0.393000													158	15					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33259390	33259390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:33259390G>A	ENST00000314144.5	-	11	1458	c.1343C>T	c.(1342-1344)cCc>cTc	p.P448L	CCT6B_ENST00000436961.3_Missense_Mutation_p.P403L|CCT6B_ENST00000421975.3_Missense_Mutation_p.P411L	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	448					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				TTGTACCTTGGGAATAATGAG	0.388000													21	125					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17055912	17055912	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:17055912C>T	ENST00000262096.8	+	6	1161	c.466C>T	c.(466-468)Cat>Tat	p.H156Y		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	156						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		GATGGATCATCATTGTCCATG	0.264000													8	17					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40936447	40936447	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40936447G>A	ENST00000246914.5	+	4	1041	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	340	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.P340P(1)|p.E329K(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CAGGGACCCCGGAATTCATGG	0.612000													15	18					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148069078	148069078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:148069078G>A	ENST00000370460.2	+	20	4284	c.3805G>A	c.(3805-3807)Gaa>Aaa	p.E1269K	AFF2_ENST00000286437.5_Missense_Mutation_p.E910K|AFF2_ENST00000342251.3_Missense_Mutation_p.E1236K|AFF2_ENST00000370457.5_Missense_Mutation_p.E1234K	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1269					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACTGACAAGAGAAAACAAAGG	0.468000													62	2					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167272466	167272466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:167272466C>T	ENST00000453925.2	-	6	965	c.931G>A	c.(931-933)Gat>Aat	p.D311N	WDR49_ENST00000476376.1_Intron|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000308378.3_Intron			Q8IV35	WDR49_HUMAN	WD repeat domain 49	255										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAGGCATAATCATACCTCTCC	0.333000													21	46					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78445558	78445558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:78445558C>T	ENST00000306773.4	-	4	1208	c.1051G>A	c.(1051-1053)Ggc>Agc	p.G351S		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	351	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			ACCAGCACGCCCTGGGGCTTG	0.657000													14	34					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147861050	147861050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:147861050C>T	ENST00000513335.1	-	4	275	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	RP11-292D4.2_ENST00000515530.1_RNA|TTC29_ENST00000398886.4_Missense_Mutation_p.E26K|TTC29_ENST00000325106.4_5'UTR			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	0							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GTGGTCATTTCGGACTACAAA	0.413000													10	25					0	0	1	0	0
CYP3A4	1576	broad.mit.edu	37	7	99381691	99381691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99381691G>A	ENST00000354593.2	-	1	117	c.14C>T	c.(13-15)cCa>cTa	p.P5L	CYP3A4_ENST00000336411.2_Missense_Mutation_p.P5L			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	5					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)	GGCCAAGTCTGGGATGAGAGC	0.507000													21	82					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126370110	126370110	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126370110C>T	ENST00000394329.3	+	9	7952	c.7939C>T	c.(7939-7941)Cct>Tct	p.P2647S	FAT4_ENST00000335110.5_Missense_Mutation_p.P945S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2647	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						cggtggtttccctcctttctC	0.368000													26	28					0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314472	58314472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:58314472C>T	ENST00000219301.4	-	7	1238	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	CCDC113_ENST00000443128.2_3'UTR|CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Missense_Mutation_p.E183K|PRSS54_ENST00000567164.1_Missense_Mutation_p.E282K	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	282					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCAACTTTTCCCAGTGGTGG	0.517000													13	18					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982185	61982185	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61982185T>C	ENST00000370263.4	-	5	799	c.578A>G	c.(577-579)aAc>aGc	p.N193S	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	193					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCTGTGCATGTTCACCAGGTC	0.582000													16	78					0	0	1	0	0
JPH2	57158	broad.mit.edu	37	20	42744370	42744370	+	Missense_Mutation	SNP	C	C	T	rs146641400		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42744370C>T	ENST00000372980.3	-	4	2817	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	649					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TTCTTGGCCCCCGCCTTGGTC	0.687000													18	25					0	0	1	0	0
KRT77	374454	broad.mit.edu	37	12	53097124	53097124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53097124G>A	ENST00000341809.3	-	1	123	c.95C>T	c.(94-96)cCg>cTg	p.P32L	KRT77_ENST00000537195.1_5'UTR	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	32	Head.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACCCACTGCCGGACTCCCACC	0.537000													30	2					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83674049	83674049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:83674049C>T	ENST00000398309.2	-	9	1374	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	DLG2_ENST00000330014.6_Missense_Mutation_p.E241K|DLG2_ENST00000531015.1_Missense_Mutation_p.E269K|DLG2_ENST00000280241.8_Missense_Mutation_p.E341K|DLG2_ENST00000532653.1_Missense_Mutation_p.E302K|DLG2_ENST00000376104.2_Missense_Mutation_p.E407K|DLG2_ENST00000543673.1_Missense_Mutation_p.E407K|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Missense_Mutation_p.E56K|DLG2_ENST00000398301.2_Missense_Mutation_p.E341K|DLG2_ENST00000418306.2_Missense_Mutation_p.E251K|DLG2_ENST00000524982.1_Missense_Mutation_p.E302K	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	302						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AGATGGTTTTCCATTGGTGGA	0.413000													38	42					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77765125	77765125	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:77765125G>A	ENST00000521891.2	+	10	6416	c.5968G>A	c.(5968-5970)Gac>Aac	p.D1990N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.D1964N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D1945N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.D1945N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1945	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGAGGCCTATGACAAGCTTTA	0.483000										HNSCC(33;0.089)			7	17					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303699	45303699	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:45303699A>G	ENST00000303230.4	-	6	1676		c.e6+1			NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1							integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTTTTTACTAACCTCCAAAGT	0.348000													12	43					0	0	1	0	0
GRM7	2917	broad.mit.edu	37	3	7348333	7348333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:7348333G>A	ENST00000486284.1	+	4	1301	c.1027G>A	c.(1027-1029)Gtg>Atg	p.V343M	GRM7_ENST00000402647.2_Missense_Mutation_p.V343M|GRM7_ENST00000357716.4_Missense_Mutation_p.V343M|GRM7_ENST00000403881.1_Missense_Mutation_p.V343M|GRM7_ENST00000389336.4_Missense_Mutation_p.V343M	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	343					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCGAGCCACGGTGGAAGGTAT	0.502000													30	20					0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57458438	57458438	+	Missense_Mutation	SNP	G	G	A	rs138462668	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:57458438G>A	ENST00000374900.4	+	8	1204	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	FAAH2_ENST00000491179.1_3'UTR	NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	362						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GTTGTGGATCGCAATGATGTC	0.348000										HNSCC(52;0.14)			30	4					0	0	1	0	0
GBAP1	2630	broad.mit.edu	37	1	155188675	155188675	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155188675G>A	ENST00000486869.1	-	0	59					NR_002188.2																						TCACCTCAGGGTCACTAGATG	0.478000													31	47					0	0	1	0	0
AGXT	189	broad.mit.edu	37	2	241813430	241813430	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:241813430C>T	ENST00000307503.3	+	6	1018	c.631C>T	c.(631-633)Ctg>Ttg	p.L211L		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	211					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCAGAAGGCCCTGAACGCCCC	0.632000													13	67					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733406	144733406	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144733406G>A	ENST00000501748.2	+	1	1453	c.1364G>A	c.(1363-1365)gGa>gAa	p.G455E	ZNF623_ENST00000458270.2_Missense_Mutation_p.G415E|ZNF623_ENST00000526926.1_Missense_Mutation_p.G415E	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATTCACACTGGAGAAAAGCCC	0.453000													20	52					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98551047	98551047	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:98551047C>T	ENST00000359863.4	+	39	5909	c.5700C>T	c.(5698-5700)atC>atT	p.I1900I	TRRAP_ENST00000355540.3_Silent_p.I1882I|TRRAP_ENST00000446306.3_Silent_p.I1881I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1900					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACAAGAAGATCGTCCTGCAGG	0.577000													28	21					0	0	1	0	0
ISY1	57461	broad.mit.edu	37	3	128852947	128852947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:128852947C>T	ENST00000393292.3	-	9	698	c.637G>A	c.(637-639)Gat>Aat	p.D213N	ISY1-RAB43_ENST00000418265.1_Silent_p.E211E|ISY1_ENST00000471497.1_Intron|ISY1_ENST00000393295.3_Silent_p.E211E|ISY1_ENST00000273541.8_Silent_p.E233E					ISY1 splicing factor homolog (S. cerevisiae)											endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1)	15						AGATGTTGATctcttcctcct	0.537000													41	21					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8051106	8051106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:8051106C>T	ENST00000344293.5	+	5	2587	c.2381C>T	c.(2380-2382)aCc>aTc	p.T794I		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	794	Pro-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGGCCGAAGAccccaccgccg	0.711000													34	53					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71398172	71398172	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71398172G>A	ENST00000339336.4	+	9	750	c.619_splice	c.e9-1	p.G207_splice	AMTN_ENST00000504451.1_Splice_Site_p.G206_splice	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	207					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction		p.G207E(1)		NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			TTTCTTCCAGGAATTCAGTAA	0.294000													12	25					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177100687	177100687	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:177100687C>T	ENST00000393643.2	+	30	4106	c.3854C>T	c.(3853-3855)cCa>cTa	p.P1285L	WDR17_ENST00000280190.4_Missense_Mutation_p.P1309L|WDR17_ENST00000508596.1_Missense_Mutation_p.P1270L|WDR17_ENST00000507824.2_Missense_Mutation_p.P1284L	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1309										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AAGGTGAATCCATTCTCACCT	0.398000													47	42					0	0	1	0	0
RAD51C	5889	broad.mit.edu	37	17	56809878	56809878	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56809878G>A	ENST00000337432.4	+	8	1070	c.999G>A	c.(997-999)aaG>aaA	p.K333K	RAD51C_ENST00000583539.1_Silent_p.K333K	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	333					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGCCAGAAGGAATGCACAG	0.328000								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				6	43					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86089701	86089701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86089701G>A	ENST00000330753.4	+	2	2610	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	FLRT2_ENST00000554746.1_Missense_Mutation_p.D615N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	615					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTTAAATAACGATCAACTCCT	0.473000													59	189					0	0	1	0	0
TRBV2	28620	broad.mit.edu	37	7	142000977	142000977	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142000977C>T	ENST00000455382.2	+	0	143																											AACCTGAAGTCACCCAGACTC	0.418000													15	19					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41522597	41522597	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41522597C>T	ENST00000324071.4	+	9	1348	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F	CYP2B6_ENST00000593831.1_Silent_p.F211F|CYP2B6_ENST00000330446.5_Silent_p.F247F	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	447					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CGGAATTGTTCCTCTTCTTCA	0.572000													12	31					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184622904	184622904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:184622904C>T	ENST00000334690.6	+	26	3108	c.2906C>T	c.(2905-2907)tCt>tTt	p.S969F	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S969F|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S575F	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	969																	CAATGCCCATCTCTTGGAAAT	0.373000													29	27					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31320165	31320165	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:31320165C>T	ENST00000269197.5	+	11	2797	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	933					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TACACAGAGTCGGTTAGAAAC	0.393000													24	22					0	0	1	0	0
LOC645166	645166	broad.mit.edu	37	1	148932797	148932797	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:148932797G>A	ENST00000539543.1	+	0	53					NR_027355.1																						CTGCTGGCCAGACCCCCAAGC	0.587000													35	166					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64422956	64422956	+	Silent	SNP	C	C	T	rs141522162		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:64422956C>T	ENST00000262043.3	+	16	5812	c.5472C>T	c.(5470-5472)ccC>ccT	p.P1824P	PHF3_ENST00000393387.1_Silent_p.P1824P			Q92576	PHF3_HUMAN	PHD finger protein 3	1824	Pro-rich.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CTAATTTTCCCCCACAAAGCA	0.512000													69	44					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62126156	62126156	+	Splice_Site	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62126156A>C	ENST00000217182.3	-	4	787		c.e4+1		EEF1A2_ENST00000298049.7_Splice_Site	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2							nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GCCGCCACTCACGTTGGGGGA	0.701000													4	29					0	0	1	0	0
PNMA3	29944	broad.mit.edu	37	X	152226784	152226784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:152226784C>T	ENST00000447306.1	+	2	1708	c.1372C>T	c.(1372-1374)Ccc>Tcc	p.P458S	PNMA3_ENST00000370264.4_Missense_Mutation_p.P458S|PNMA3_ENST00000370265.4_Intron	NM_013364.4	NP_037496.3	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	458					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGAGCCATCCCAAGTCCAA	0.537000													27	60					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3265630	3265630	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3265630C>T	ENST00000520002.1	-	15	2420	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	CSMD1_ENST00000539096.1_Missense_Mutation_p.R621Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.R622Q|CSMD1_ENST00000602557.1_Missense_Mutation_p.R622Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.R621Q|CSMD1_ENST00000542608.1_Missense_Mutation_p.R621Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.R622Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	622	CUB 4.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TAGGTGAATTCGACTTCCTGG	0.413000													16	16					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39886529	39886529	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:39886529C>T	ENST00000260356.5	+	21	3558	c.3393C>T	c.(3391-3393)atC>atT	p.I1131I		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1131	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGAAGAAAATCATGGCTGACT	0.393000													27	44					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128493530	128493530	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:128493530G>A	ENST00000325888.8	+	38	6477	c.6216G>A	c.(6214-6216)ggG>ggA	p.G2072G	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.G2039G	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2072					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGTTATGGGGGCTTGGGGC	0.582000													9	30					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884169	38884169	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:38884169G>A	ENST00000274276.3	+	5	1061	c.659G>A	c.(658-660)gGa>gAa	p.G220E	OSMR_ENST00000502536.1_Missense_Mutation_p.G220E	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	220					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAAGTCAAGGAAATGTCAGT	0.388000													72	30					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57310520	57310520	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:57310520G>A	ENST00000457912.1	+	2	459	c.459G>A	c.(457-459)gaG>gaA	p.E153E	SMTNL1_ENST00000399154.2_Silent_p.E135E|SMTNL1_ENST00000527972.1_Silent_p.E135E			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	135										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGGCCTCTGAGAAGCAGAAGG	0.522000													4	11					0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128262908	128262908	+	Missense_Mutation	SNP	G	G	A	rs3832144		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128262908G>A	ENST00000295321.4	-	3	830	c.571C>T	c.(571-573)Cca>Tca	p.P191S	IWS1_ENST00000486662.1_5'UTR|IWS1_ENST00000455721.2_Missense_Mutation_p.P198S|AC010976.2_ENST00000599001.1_RNA	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	191	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TGGTGCCTTGGGGGTTCCTCA	0.483000													57	121					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42697295	42697295	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42697295T>A	ENST00000358131.5	+	8	1644	c.1436T>A	c.(1435-1437)cTc>cAc	p.L479H	TOX2_ENST00000435864.2_Missense_Mutation_p.L375H|TOX2_ENST00000372999.1_Missense_Mutation_p.L455H|TOX2_ENST00000341197.3_Missense_Mutation_p.L497H|TOX2_ENST00000423191.1_Missense_Mutation_p.L455H	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CACAGCCTGCTCCCCAGGGAC	0.642000													23	28					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60448873	60448873	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60448873C>T	ENST00000360469.5	+	7	1055	c.967C>T	c.(967-969)Cca>Tca	p.P323S	CDH4_ENST00000543233.1_Missense_Mutation_p.P249S	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	323	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GACCCAGACCCCACAGAGCCC	0.627000													83	60					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551788	248551788	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248551788G>A	ENST00000355728.2	+	1	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGTCTGAGGAACAGGGATG	0.458000													37	35					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736475	4736475	+	Silent	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:4736475G>T	ENST00000545990.2	-	5	2117	c.1593C>A	c.(1591-1593)gcC>gcA	p.A531A	AKAP3_ENST00000228850.1_Silent_p.A531A	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	531					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TCAGAAGCAGGGCAGACACGA	0.512000													12	21					1.05317e-09	1.05976e-09	1	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68719814	68719814	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:68719814C>T	ENST00000283916.6	-	3	319	c.221G>A	c.(220-222)aGg>aAg	p.R74K	TMPRSS11D_ENST00000509584.1_5'UTR|RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	74	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.R74K(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACTCAAAGTCCTGTATTCCTG	0.284000													16	34					0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334625	69334625	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:69334625T>C	ENST00000305363.4	+	4	351	c.287T>C	c.(286-288)tTa>tCa	p.L96S		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	96	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						AAATCTCCATTAAGGGAAGAA	0.303000													71	14					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57397399	57397399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57397399G>A	ENST00000300101.2	-	2	1388	c.1303C>T	c.(1303-1305)Ccc>Tcc	p.P435S		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						CCTGGCAGGGGATCGTTGGGG	0.532000													24	42					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54925532	54925532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54925532G>A	ENST00000293373.6	+	25	2783	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E852K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	902					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|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 actin filament polymerization|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 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|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTCAGGGGCTGAAAATGTGCT	0.502000													27	32					0	0	1	0	0
TMEM8C	389827	broad.mit.edu	37	9	136384016	136384016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:136384016G>A	ENST00000339996.3	-	3	480	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	TMEM8C_ENST00000413714.1_5'UTR	NM_001080483.2	NP_001073952.1	A6NI61	TMM8C_HUMAN	transmembrane protein 8C	127						integral to membrane				NS(1)|autonomic_ganglia(1)|large_intestine(2)|lung(4)	8						GCGATGATGAGGATGGCTGTG	0.622000													11	22					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143096351	143096351	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143096351C>T	ENST00000275815.3	-	5	1077	c.991_splice	c.e5+1	p.G331_splice		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	331						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTGGACTCACCTGTGCATGCC	0.612000													18	45					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409820	30409820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30409820C>T	ENST00000320159.2	+	2	1625	c.1249C>T	c.(1249-1251)Ccc>Tcc	p.P417S		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	417	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						ACCTCGAAGTCCCTCACACTC	0.697000													9	20					0	0	1	0	0
F2R	2149	broad.mit.edu	37	5	76029048	76029048	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:76029048T>A	ENST00000319211.4	+	2	1263	c.998T>A	c.(997-999)cTg>cAg	p.L333Q		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	333					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 blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AACGTCCTCCTGATTGCGCAT	0.522000													22	37					0	0	1	0	0
TUBA1A	7846	broad.mit.edu	37	12	49579071	49579071	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49579071G>A	ENST00000301071.7	-	4	1422	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	TUBA1A_ENST00000550767.1_Missense_Mutation_p.P325S|TUBA1A_ENST00000295766.5_Missense_Mutation_p.P360S	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	360					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						ACCACAGTGGGAGGCTGGTAG	0.572000													13	31					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468681	86468681	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86468681C>T	ENST00000361669.2	+	4	2950	c.1851C>T	c.(1849-1851)atC>atT	p.I617I	GRM3_ENST00000536043.1_Silent_p.I489I|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.I209I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	617					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCTGCTACATCTTATTGTTTG	0.483000													29	125					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49361921	49361921	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49361921G>A	ENST00000301061.4	-	4	867	c.519C>T	c.(517-519)ttC>ttT	p.F173F	WNT10B_ENST00000403957.1_Intron|WNT10B_ENST00000407467.1_Intron	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	173					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GAGAGTGGGGGAAACTCTTGC	0.637000													14	22					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569108	55569108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55569108C>T	ENST00000395445.1	-	36	5096	c.4702G>A	c.(4702-4704)Gaa>Aaa	p.E1568K	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.E764K|PCDH15_ENST00000395442.1_Missense_Mutation_p.E433K|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395440.1_Missense_Mutation_p.E502K|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCCACTCTTCACCCTCAAGG	0.423000										HNSCC(58;0.16)			17	50					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45316778	45316778	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45316778G>A	ENST00000391955.1	+	6	729	c.685G>A	c.(685-687)Gat>Aat	p.D229N	BCAM_ENST00000270233.6_Missense_Mutation_p.D229N			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	229	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GCTCCGCAAGGATGACCGAGA	0.706000													33	133					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13828697	13828697	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:13828697C>T	ENST00000279593.3	-	4	1316	c.1107G>A	c.(1105-1107)aaG>aaA	p.K369K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	369					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACTTCCTCTCCTTGTTCAGAA	0.408000													18	89					0	0	1	0	0
FTH1P3	2498	broad.mit.edu	37	5	17354459	17354459	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:17354459G>A	ENST00000511821.1	+	0	318				FTH1P10_ENST00000401830.3_RNA																							GCTCCAGGTTGATCTGGCGGT	0.562000													35	9					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:40359793C>T	ENST00000338305.6	-	3	2801	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000													27	38					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94915035	94915035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94915035C>T	ENST00000334708.3	-	2	141	c.77G>A	c.(76-78)gGa>gAa	p.G26E	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	26					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		ACTTTTATCTCCATGGGCAAG	0.552000													59	100					0	0	1	0	0
PLVAP	83483	broad.mit.edu	37	19	17476724	17476724	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17476724C>T	ENST00000252590.4	-	3	611	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	184						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGCACGCTTTCCTTATCCTTA	0.542000													15	30					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50912423	50912423	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:50912423C>T	ENST00000442544.2	+	16	2986	c.2370C>T	c.(2368-2370)tcC>tcT	p.S790S	DCC_ENST00000581580.1_Silent_p.S445S|DCC_ENST00000412726.1_Silent_p.S638S	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	790	Fibronectin type-III 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTCAAGTTCCCATTATGTAA	0.348000													11	14					0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152212279	152212279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:152212279G>A	ENST00000455694.2	+	5	663	c.661G>A	c.(661-663)Gga>Aga	p.G221R	SH3D19_ENST00000604030.1_Intron|PRSS48_ENST00000441586.2_Missense_Mutation_p.G78R	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	221	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GGGTGATTCTGGAGGGCCTCT	0.433000													9	62					0	0	1	0	0
BCAS1	8537	broad.mit.edu	37	20	52591931	52591931	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:52591931C>T	ENST00000395961.3	-	8	1345	c.1179G>A	c.(1177-1179)gaG>gaA	p.E393E	BCAS1_ENST00000371440.3_Intron|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371435.2_Silent_p.E393E	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	393						cytoplasm	protein binding	p.E393D(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AACTTACATTCTCCTCCGCAC	0.413000													36	23					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66468364	66468364	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66468364T>C	ENST00000533211.1	-	17	3537	c.3206A>G	c.(3205-3207)gAc>gGc	p.D1069G	SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1069G|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1069G			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1069					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCGCAAGAAGTCCTGCAGCCG	0.677000													7	27					0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71021714	71021714	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:71021714C>T	ENST00000318789.4	-	18	2169	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	FOXP1_ENST00000493089.1_Silent_p.K547K|FOXP1_ENST00000484350.1_Silent_p.K472K|FOXP1_ENST00000491238.1_Silent_p.K550K|FOXP1_ENST00000498215.1_Silent_p.K548K|FOXP1_ENST00000475937.1_Silent_p.K548K|FOXP1_ENST00000468577.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	548					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ACCCACTGATCTTTTGTGGCC	0.423000			T	PAX5	ALL								26	76					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78969007	78969007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:78969007G>A	ENST00000545128.1	+	36	5583	c.5045G>A	c.(5044-5046)gGg>gAg	p.G1682E		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	849					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAGGGACCAGGGGCCAAGAAC	0.542000													3	5					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54963330	54963330	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54963330G>A	ENST00000243052.3	+	5	847	c.410_splice	c.e5-1	p.R137_splice	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Splice_Site_p.R96_splice|PDE1B_ENST00000550620.1_Splice_Site_p.R117_splice	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	137					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						TCTCTCTCAGGATGTTCCGGA	0.517000													32	24					0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7907264	7907264	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7907264C>T	ENST00000254854.4	+	3	966	c.816C>T	c.(814-816)tcC>tcT	p.S272S		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	272					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				CCGATGGCTCCCTGGTCTTCC	0.677000													33	91					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262171	140262171	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140262171G>A	ENST00000289272.2	+	1	318	c.318G>A	c.(316-318)ctG>ctA	p.L106L	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.L106L|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATCCACCTGGAGGTGATCG	0.537000													52	160					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234137	18234137	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18234137C>T	ENST00000229002.2	-	6	812	c.606G>A	c.(604-606)agG>agA	p.R202R	RERGL_ENST00000538724.1_Silent_p.R201R	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	202	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						AAACAGATTTCCTTCTCTTTC	0.333000													8	22					0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80467368	80467368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:80467368C>T	ENST00000539156.1	+	9	2876	c.638C>T	c.(637-639)cCc>cTc	p.P213L	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000261755.5_Missense_Mutation_p.P283L|FAH_ENST00000407106.1_Missense_Mutation_p.P283L|FAH_ENST00000561421.1_Missense_Mutation_p.P283L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	283					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACCCCAGGCCCCTGCCGTAT	0.607000									Tyrosinemia, type 1				47	115					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135740802	135740802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135740802G>A	ENST00000392915.1	-	9	3492	c.3373C>T	c.(3373-3375)Ctt>Ttt	p.L1125F	MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron					mitogen-activated protein kinase kinase kinase 19																		CAAAATGGAAGGAACATCTTT	0.393000													20	57					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	31015036	31015036	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:31015036C>T	ENST00000298139.5	+	33	4221	c.3972C>T	c.(3970-3972)ccC>ccT	p.P1324P		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1324					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	p.P1324P(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAACCCTCCCGTCAACTCAG	0.473000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				15	28					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364668	5364668	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5364668G>A	ENST00000300773.2	-	1	141	c.87C>T	c.(85-87)ttC>ttT	p.F29F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATGAACAAGAAAAATACGG	0.448000													16	19					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10470384	10470384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10470384C>T	ENST00000382483.3	-	4	1447	c.1224G>A	c.(1222-1224)tgG>tgA	p.W408*		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	408					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGATTCGTCCAGATTTCAT	0.672000													33	55					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73493869	73493869	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73493869C>T	ENST00000314256.7	+	27	3809	c.3415C>T	c.(3415-3417)Ctg>Ttg	p.L1139L	KIAA0195_ENST00000375248.5_Silent_p.L1149L|KIAA0195_ENST00000579208.1_Silent_p.L790L	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1139					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCATCTCTCTGCTGGGGAA	0.527000													30	27					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470696	4470696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4470696G>A	ENST00000325719.4	+	1	172	c.127G>A	c.(127-129)Gga>Aga	p.G43R		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	43					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)		GGCCCTGCTTGGAAACTGCAC	0.532000													42	72					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107041049	107041049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:107041049C>T	ENST00000409886.3	-	20	3461	c.3374G>A	c.(3373-3375)gGa>gAa	p.G1125E	RGPD3_ENST00000304514.7_Missense_Mutation_p.G1125E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1125	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCTATCTGATCCAGAGAGGGG	0.433000													56	134					0	0	1	0	0
KIAA0195	9772	broad.mit.edu	37	17	73489821	73489821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73489821G>A	ENST00000314256.7	+	18	2625	c.2231G>A	c.(2230-2232)gGg>gAg	p.G744E	KIAA0195_ENST00000375248.5_Missense_Mutation_p.G754E|KIAA0195_ENST00000579208.1_Missense_Mutation_p.G395E	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	744					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCCTGTCTGGGTATTGCTCT	0.602000													20	87					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135027620	135027620	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135027620C>T	ENST00000304613.3	+	26	4692	c.4671C>T	c.(4669-4671)acC>acT	p.T1557T	KNDC1_ENST00000368572.2_Silent_p.T1559T			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1557	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCAGCCACACCTCCAAGGTGG	0.597000													10	29					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5345040	5345040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5345040G>A	ENST00000328813.2	-	1	542	c.488C>T	c.(487-489)tCa>tTa	p.S163L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATATGAAAATGAAAAAAGACG	0.398000													23	27					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112485485	112485485	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:112485485A>C	ENST00000261745.4	-	17	2238	c.1990T>G	c.(1990-1992)Tgg>Ggg	p.W664G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	664						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTTGGATCCCAGCTGAAAAAA	0.348000													107	129					0	0	1	0	0
MOGAT2	80168	broad.mit.edu	37	11	75438510	75438510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:75438510C>T	ENST00000526712.1	+	2	828	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	MOGAT2_ENST00000198801.5_Missense_Mutation_p.R101W			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	101					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	p.R101R(1)		NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					GGACCCCTCTCGGAACTACAT	0.627000													17	20					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032466	21032466	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:21032466C>T	ENST00000381545.3	+	11	1451	c.1232C>T	c.(1231-1233)tCa>tTa	p.S411L	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S411L|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S411L|LST3_ENST00000540229.1_Missense_Mutation_p.S411L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	411					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					GCCAAATTTTCATTTCTTACT	0.358000													11	36					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46312248	46312248	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46312248T>C	ENST00000510861.1	-	6	674	c.501A>G	c.(499-501)ccA>ccG	p.P167P	GABRA2_ENST00000507069.1_Silent_p.P167P|GABRA2_ENST00000540012.1_Silent_p.P112P|GABRA2_ENST00000381620.4_Silent_p.P167P|GABRA2_ENST00000515082.1_Silent_p.P167P|GABRA2_ENST00000514090.1_Silent_p.P167P|GABRA2_ENST00000356504.1_Silent_p.P167P			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	167					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCAAGTGCATTGGGCATTCAG	0.368000													33	21					0	0	1	0	0
OR1A1	8383	broad.mit.edu	37	17	3119791	3119791	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3119791C>T	ENST00000304094.1	+	1	877	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293W(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTGAGAAATCGGGACATGAA	0.468000													52	66					0	0	1	0	0
SIRPG	55423	broad.mit.edu	37	20	1616239	1616239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:1616239G>A	ENST00000381580.1	-	4	835	c.656C>T	c.(655-657)cCc>cTc	p.P219L	SIRPG_ENST00000381583.2_Intron|SIRPG_ENST00000216927.4_Intron|SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000303415.3_Missense_Mutation_p.P252L|RP11-77C3.3_ENST00000456177.1_RNA			Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	252	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 cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTCCAAGGTGGGTGGAACTGA	0.557000													29	29					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158517028	158517028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:158517028G>A	ENST00000355585.4	+	27	4198	c.4123G>A	c.(4123-4125)Ggc>Agc	p.G1375S	SYNJ2_ENST00000367112.1_Missense_Mutation_p.G460S|SYNJ2_ENST00000367122.2_Missense_Mutation_p.G1330S	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1375							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCTGCCGCGGGCACCGTCTT	0.612000													10	15					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171544123	171544123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:171544123C>T	ENST00000367742.3	+	25	7053	c.6811C>T	c.(6811-6813)Cca>Tca	p.P2271S	PRRC2C_ENST00000392078.3_Missense_Mutation_p.P2271S|PRRC2C_ENST00000426496.2_Missense_Mutation_p.P2204S|PRRC2C_ENST00000338920.4_Missense_Mutation_p.P2269S			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	2269							protein C-terminus binding										AAAGGGGTCTCCAGTAACTTC	0.433000													7	25					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70333188	70333188	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:70333188C>T	ENST00000373644.4	+	2	1302	c.1093C>T	c.(1093-1095)Cta>Tta	p.L365L		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	365					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCTCTTTCCTAGGACAGGC	0.517000													40	105					0	0	1	0	0
KCTD3	51133	broad.mit.edu	37	1	215793565	215793565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215793565C>T	ENST00000259154.4	+	18	2347	c.2053C>T	c.(2053-2055)Cct>Tct	p.P685S	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	685						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		AAGAGCTGTCCCTGAAAATGG	0.398000													38	27					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187747	57187747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:57187747G>A	ENST00000331162.4	-	5	1645	c.1375C>T	c.(1375-1377)Cat>Tat	p.H459Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H459N(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTG	0.428000													14	104					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60503447	60503447	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60503447C>T	ENST00000360469.5	+	12	2059	c.1971C>T	c.(1969-1971)gcC>gcT	p.A657A	CDH4_ENST00000543233.1_Silent_p.A583A	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	657	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCCCGGCGGCCGTGCGGAAGA	0.667000													30	100					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82882186	82882186	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:82882186G>A	ENST00000306270.7	-	28	4390	c.3841C>T	c.(3841-3843)Cca>Tca	p.P1281S	IBTK_ENST00000503631.1_Missense_Mutation_p.P1080S|IBTK_ENST00000510291.1_Missense_Mutation_p.P1266S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1281					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAAGTGACTGGGGCTACCATG	0.373000													10	13					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45284184	45284184	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45284184A>C	ENST00000270279.3	+	2	439	c.376A>C	c.(376-378)Atc>Ctc	p.I126L	CBLC_ENST00000341505.4_Missense_Mutation_p.I126L	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	126	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CAAGCTGGCCATCATCTTCAG	0.617000			M		AML								114	110					0	0	1	0	0
MGRN1	23295	broad.mit.edu	37	16	4732940	4732940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:4732940C>T	ENST00000399577.5	+	14	1568	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	MGRN1_ENST00000415496.1_Missense_Mutation_p.S471F|MGRN1_ENST00000586183.1_Missense_Mutation_p.S470F|MGRN1_ENST00000588994.1_Missense_Mutation_p.S470F|MGRN1_ENST00000262370.7_Missense_Mutation_p.S492F	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	492					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GAAAGCAGCTCCCCTGAGGTG	0.692000													6	5					0	0	1	0	0
LAMP5	24141	broad.mit.edu	37	20	9510454	9510454	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:9510454A>G	ENST00000246070.2	+	6	1322	c.830A>G	c.(829-831)aAg>aGg	p.K277R	LAMP5_ENST00000427562.2_Missense_Mutation_p.K233R	NM_012261.3	NP_036393.1	Q9UJQ1	CT103_HUMAN	lysosomal-associated membrane protein family, member 5	277						integral to membrane											TCCCAGTATAAGCACATGGGC	0.522000													16	74					0	0	1	0	0
SLC4A4	8671	broad.mit.edu	37	4	72397811	72397811	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:72397811C>T	ENST00000340595.3	+	14	2263	c.2067C>T	c.(2065-2067)atC>atT	p.I689I	SLC4A4_ENST00000425175.1_Silent_p.I733I|SLC4A4_ENST00000351898.6_Silent_p.I733I|SLC4A4_ENST00000264485.5_Silent_p.I733I	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	733						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTGCCATTATCTTGTCCATTC	0.378000													18	22					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270844	1270844	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1270844A>G	ENST00000348261.5	+	35	7160	c.6912A>G	c.(6910-6912)gaA>gaG	p.E2304E	CACNA1H_ENST00000565831.1_Silent_p.E2298E|CACNA1H_ENST00000358590.4_Silent_p.E2298E	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2304					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGCCCCTGGAACCCCCAGAAT	0.627000													22	56					0	0	1	0	0
ZNF772	400720	broad.mit.edu	37	19	57984885	57984885	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57984885G>A	ENST00000343280.4	-	5	1487	c.1227C>T	c.(1225-1227)atC>atT	p.I409I	ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000427512.2_Silent_p.I297I|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Silent_p.I368I|ZNF772_ENST00000601768.1_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TCCCACATGCGATGCACTCAT	0.423000													15	71					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6694503	6694503	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6694503C>T	ENST00000245907.6	-	24	3185	c.3093G>A	c.(3091-3093)acG>acA	p.T1031T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1031					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCCACTGCTCCGTTTCATCCA	0.617000													14	58					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473784	99473784	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99473784G>A	ENST00000316368.2	-	1	896	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CTTTATTCCGGAGAGTATAAA	0.458000													59	52					0	0	1	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033056	41033056	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:41033056C>T	ENST00000380620.3	+	5	1162	c.570C>T	c.(568-570)ccC>ccT	p.P190P	B3GALT5_ENST00000343118.4_Silent_p.P190P|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Silent_p.P190P|B3GALT5_ENST00000380618.1_Silent_p.P190P			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	190					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				ATGAGTTTCCCATCAGGCAGC	0.463000													19	54					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	25004692	25004692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:25004692G>A	ENST00000533227.1	+	9	647	c.360G>A	c.(358-360)atG>atA	p.M120I	LUZP2_ENST00000336930.6_Missense_Mutation_p.M206I	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	206						extracellular region		p.M206I(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TGAAAGCAATGAAAGAGACTG	0.413000													27	86					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273347	205273347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205273347G>A	ENST00000367157.3	-	7	1244	c.1118C>T	c.(1117-1119)tCg>tTg	p.S373L		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	373					actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CTTCTTGAGCGAATGCTGGCG	0.617000													18	76					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25342814	25342814	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:25342814C>T	ENST00000546682.1	+	0	1229				SNHG14_ENST00000553108.1_RNA|SNORD116-25_ENST00000516517.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						GTGCCTGGATCGATGATGACT	0.478000													23	38					0	0	1	0	0
TFAP2E	339488	broad.mit.edu	37	1	36056263	36056263	+	Silent	SNP	C	C	T	rs140768899	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36056263C>T	ENST00000373235.3	+	6	1141	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_178548.3	NP_848643.2	Q6VUC0	AP2E_HUMAN	transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)	311	H-S-H (helix-span-helix), dimerization.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F303F(1)		endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCCGAGACTTCGGTTACGTCT	0.642000													8	12					0	0	1	0	0
CORIN	10699	broad.mit.edu	37	4	47647113	47647113	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47647113C>T	ENST00000273857.4	-	14	1941	c.1942G>A	c.(1942-1944)Gac>Aac	p.D648N	CORIN_ENST00000505909.1_Missense_Mutation_p.D611N|CORIN_ENST00000502252.1_Missense_Mutation_p.D581N|CORIN_ENST00000504584.1_Missense_Mutation_p.D611N|CORIN_ENST00000508498.1_Missense_Mutation_p.D509N	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	648	LDL-receptor class A 6.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTTTTCTCGTCCATGTAATCA	0.388000													22	44					0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025151	34025151	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:34025151C>T	ENST00000374372.1	-	3	1061	c.558G>A	c.(556-558)aaG>aaA	p.K186K	GDF5_ENST00000374369.3_Silent_p.K186K			P43026	GDF5_HUMAN	growth differentiation factor 5	186					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TGTTGCCTCCCTTTCTGTCAG	0.632000													21	58					0	0	1	0	0
FOXA2	3170	broad.mit.edu	37	20	22563527	22563527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:22563527G>A	ENST00000419308.2	-	2	537	c.335C>T	c.(334-336)cCg>cTg	p.P112L	FOXA2_ENST00000319993.4_Missense_Mutation_p.P118L|FOXA2_ENST00000377115.4_Missense_Mutation_p.P112L	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	112					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region 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			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CCCCCCGAGCGGGCTCAGGCT	0.786000													8	11					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4169671	4169671	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:4169671C>T	ENST00000404826.2	+	27	4210	c.4071C>T	c.(4069-4071)acC>acT	p.T1357T	SDK1_ENST00000389531.3_Silent_p.T1357T	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1357	Fibronectin type-III 7.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGGCGTTCACCCGCATCGGGA	0.672000													12	118					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55614901	55614901	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55614901C>T	ENST00000326258.1	+	1	93	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TTATTTTTTTCCTGGCCATTT	0.378000													78	101					0	0	1	0	0
PRKCG	5582	broad.mit.edu	37	19	54401230	54401230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54401230C>T	ENST00000536044.1	+	9	1165	c.869C>T	c.(868-870)cCt>cTt	p.P290L	PRKCG_ENST00000542049.1_Silent_p.P206P|PRKCG_ENST00000540413.1_Silent_p.P319P|PRKCG_ENST00000263431.3_Silent_p.P319P			P05129	KPCG_HUMAN	protein kinase C, gamma	0					activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		GGATGGGcccctcttcctctc	0.597000													34	127					0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133557034	133557034	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:133557034C>T	ENST00000285208.4	-	6	820	c.471G>A	c.(469-471)gcG>gcA	p.A157A	RAB6B_ENST00000486858.1_Silent_p.A144A|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Silent_p.A157A	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	157					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCCAGTCTTCGCACTGGTCT	0.617000													32	122					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061021	11061021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11061021G>A	ENST00000390677.2	-	1	1140	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	293					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCCACCAAAAGAAAGGCCTGT	0.423000													9	42					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122642521	122642521	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:122642521G>A	ENST00000195173.4	-	10	1518	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	SEMA5B_ENST00000451055.2_Silent_p.Y459Y|SEMA5B_ENST00000357599.3_Silent_p.Y405Y			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	405	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GGTTCTCCTGGTAGCGAAATG	0.557000													27	78					0	0	1	0	0
SNORD113-6	767566	broad.mit.edu	37	14	101405923	101405923	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:101405923G>A	ENST00000363345.2	+	0	31					NR_003234.1																						TGGGGTTTCTGAAACAACATT	0.363000													9	21					0	0	1	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121802	117121802	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117121802T>G	ENST00000310357.3	-	4	1514	c.1493A>C	c.(1492-1494)aAt>aCt	p.N498T	GPRC6A_ENST00000530250.1_Missense_Mutation_p.N323T|GPRC6A_ENST00000368549.3_Intron	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	498					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GAAGACATCATTCTGTAGGTC	0.408000													23	38					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130648036	130648036	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130648036G>A	ENST00000539839.1	+	1	1033	c.451G>A	c.(451-453)Gga>Aga	p.G151R	FZD10_ENST00000229030.4_Silent_p.K183K	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		ACCCGCTGAAGGAcgggggcc	0.766000													8	24					0	0	1	0	0
SEMA5A	9037	broad.mit.edu	37	5	9108305	9108305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:9108305G>A	ENST00000382496.5	-	16	2685	c.2020C>T	c.(2020-2022)Caa>Taa	p.Q674*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	674	TSP type-1 3.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CGGCGAGCTTGAATGCCACCC	0.552000													12	8					0	0	1	0	0
KRTAP5-10	387273	broad.mit.edu	37	11	71276950	71276950	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71276950C>T	ENST00000398531.1	+	1	342	c.317C>T	c.(316-318)tCt>tTt	p.S106F	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	106	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GGCTGTGGTTCTTGTGGGGGC	0.677000													54	68					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66975531	66975531	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:66975531C>T	ENST00000317091.4	+	7	2214	c.1230C>T	c.(1228-1230)ttC>ttT	p.F410F	CES2_ENST00000417689.1_Silent_p.F410F	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	346					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		ACAATGAATTCGGCTGGCTCA	0.607000													15	15					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054508	143054508	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143054508C>T	ENST00000409408.1	-	5	2099	c.391G>A	c.(391-393)Gag>Aag	p.E131K	FAM131B_ENST00000409578.1_Missense_Mutation_p.E147K|FAM131B_ENST00000409222.3_Missense_Mutation_p.E131K|FAM131B_ENST00000443739.2_Missense_Mutation_p.E159K|FAM131B_ENST00000409346.1_Missense_Mutation_p.E131K			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B	131										breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCAAACTGCTCCATGACGCCT	0.512000													24	49					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31135100	31135100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31135100C>T	ENST00000349752.5	-	14	2128	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	GALNT14_ENST00000420311.2_Missense_Mutation_p.D462N|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.D477N|GALNT14_ENST00000356174.3_Missense_Mutation_p.D464N|GALNT14_ENST00000324589.5_Missense_Mutation_p.D502N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	497	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGTCGGTCATCTCCATTCTTG	0.542000													21	163					0	0	1	0	0
FYB	2533	broad.mit.edu	37	5	39134959	39134959	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:39134959G>A	ENST00000351578.6	-	8	1863	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	FYB_ENST00000505428.1_Missense_Mutation_p.S558L|FYB_ENST00000540520.1_Missense_Mutation_p.S568L|FYB_ENST00000512982.1_Missense_Mutation_p.S558L|FYB_ENST00000515010.1_Missense_Mutation_p.S558L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	558	SH3.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCACTCACATGAACCCCTTGC	0.433000													31	11					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101472	168101472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168101472G>A	ENST00000409195.1	+	9	3659	c.3570G>A	c.(3568-3570)atG>atA	p.M1190I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M968I|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M1190I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1015					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CTGTTGAAATGGATATACAAG	0.368000													6	28					0	0	1	0	0
PNLDC1	154197	broad.mit.edu	37	6	160229782	160229782	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160229782C>T	ENST00000275275.5	+	8	711	c.540C>T	c.(538-540)gcC>gcT	p.A180A	PNLDC1_ENST00000392167.3_Silent_p.A191A	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	180						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTTCCAGGCCTTTGAGGTCC	0.597000													5	10					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707551	96707551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96707551C>T	ENST00000260682.6	+	4	509	c.497C>T	c.(496-498)cCc>cTc	p.P166L		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	166					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCCTGTGATCCCACTTTCATC	0.308000													15	66					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683131	33683131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:33683131C>T	ENST00000504830.1	-	5	1242	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.E303K	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	303	Peptidase M12B.|Poly-Glu.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACCTCTTCTTCTTCGAGTAGA	0.428000										HNSCC(64;0.19)			8	32					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996313	140996313	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140996313G>A	ENST00000285879.4	+	4	3409	c.3123G>A	c.(3121-3123)agG>agA	p.R1041R	MAGEC1_ENST00000406005.2_Silent_p.R108R	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1041	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGCCCAGGGAGCTCCTCA	0.557000										HNSCC(15;0.026)			39	43					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140168284	140168284	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140168284C>T	ENST00000378133.3	+	1	2409	c.2409C>T	c.(2407-2409)ttC>ttT	p.F803F	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031410.1	NP_113598.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCCAACTTTCGAGTTTTGGC	0.338000													6	3					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133492516	133492516	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133492516C>T	ENST00000388996.4	-	1	684	c.264G>A	c.(262-264)ctG>ctA	p.L88L	KCNQ3_ENST00000519445.1_Silent_p.L88L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	88					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGGTCTTGGCCAGGAGCCCGA	0.701000													8	13					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71212857	71212857	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:71212857G>A	ENST00000393567.2	-	4	505	c.355C>T	c.(355-357)Cca>Tca	p.P119S	HYDIN_ENST00000448691.1_Missense_Mutation_p.P119S|HYDIN_ENST00000393550.2_Missense_Mutation_p.P119S|HYDIN_ENST00000538248.1_Missense_Mutation_p.P146S|HYDIN_ENST00000321489.5_Missense_Mutation_p.P119S|HYDIN_ENST00000541601.1_Missense_Mutation_p.P136S|HYDIN_ENST00000448089.2_Missense_Mutation_p.P119S|HYDIN_ENST00000288168.10_Missense_Mutation_p.P136S	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	119										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAATCAGTGGAACTTCATAG	0.393000													31	34					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17417987	17417987	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:17417987C>T	ENST00000470360.1	+	11	1683	c.1566C>T	c.(1564-1566)tcC>tcT	p.S522S	SLC7A2_ENST00000398090.3_Silent_p.S522S|SLC7A2_ENST00000004531.10_Silent_p.S523S|SLC7A2_ENST00000494857.1_Silent_p.S483S|SLC7A2_ENST00000522656.1_Silent_p.S483S			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	483					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TCTGCCCCTCCCTTCTGCCAA	0.537000													24	116					0	0	1	0	0
MUCL1	118430	broad.mit.edu	37	12	55251988	55251988	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55251988T>G	ENST00000308796.6	+	4	281	c.235T>G	c.(235-237)Tgg>Ggg	p.W79G	MUCL1_ENST00000546809.1_Missense_Mutation_p.W74G|MUCL1_ENST00000547990.1_3'UTR	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	79						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TTTACCCAAATGGGTTGGGGA	0.413000													49	71					0	0	1	0	0
GOPC	57120	broad.mit.edu	37	6	117896402	117896402	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117896402G>A	ENST00000535237.1	-	4	817	c.588C>T	c.(586-588)ctC>ctT	p.L196L	GOPC_ENST00000052569.6_Silent_p.L188L|GOPC_ENST00000368498.2_Silent_p.L196L					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CTTCAGCCTGGAGAACAGCTA	0.398000			O	ROS1	glioblastoma								18	19					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153593319	153593319	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153593319G>A	ENST00000422373.1	-	12	1946	c.1698C>T	c.(1696-1698)ttC>ttT	p.F566F	FLNA_ENST00000360319.4_Silent_p.F566F|FLNA_ENST00000369850.3_Silent_p.F566F|FLNA_ENST00000344736.4_Silent_p.F566F	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	566					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTTCACTTCGAAGGGACTGC	0.637000													93	9					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31609403	31609403	+	Missense_Mutation	SNP	G	G	A	rs147533056	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31609403G>A	ENST00000379416.3	-	9	718	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	XDH_ENST00000491727.1_5'UTR	NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	224					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCTGCTTCCGAGGAGTGTCT	0.507000													16	117					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767744	105767744	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:105767744C>T	ENST00000374798.3	+	5	901	c.831C>T	c.(829-831)ccC>ccT	p.P277P	CYLC2_ENST00000487798.1_Silent_p.P277P	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	277	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AGAAGAAGCCCAGTAGTACAG	0.393000													10	16					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66538868	66538868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:66538868C>T	ENST00000592554.1	-	6	1617	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	299						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					TGCAGGATTTCATTCTTGGTG	0.517000													27	94					0	0	1	0	0
AIF1	199	broad.mit.edu	37	6	31584596	31584596	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31584596C>T	ENST00000376059.3	+	6	509	c.363C>T	c.(361-363)atC>atT	p.I121I	AIF1_ENST00000376049.4_Silent_p.I67I	NM_001623.3	NP_001614.3	P55008	AIF1_HUMAN	allograft inflammatory factor 1	121					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						CAACCAGGATCCTGATGTATG	0.498000													19	60					0	0	1	0	0
CYP2A13	1553	broad.mit.edu	37	19	41597763	41597763	+	Missense_Mutation	SNP	C	C	T	rs149101733	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41597763C>T	ENST00000330436.3	+	5	781	c.781C>T	c.(781-783)Ccc>Tcc	p.P261S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	261					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CACGCTGGATCCCAATTCCCC	0.582000													29	49					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36875033	36875033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36875033C>T	ENST00000301807.6	-	21	6156	c.4259G>A	c.(4258-4260)aGa>aAa	p.R1420K	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1420K|TRANK1_ENST00000429976.2_Missense_Mutation_p.R1970K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1970					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AAGTGCTTCTCTCAGAATGTC	0.552000													14	16					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45394076	45394076	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45394076C>T	ENST00000389039.6	-	21	3151	c.2766G>A	c.(2764-2766)gaG>gaA	p.E922E	DUOX2_ENST00000603300.1_Silent_p.E922E			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	922	EF-hand 3.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTGAAAATCCTCCCATGTCA	0.572000													24	48					0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	677524	677524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:677524G>A	ENST00000535977.1	+	7	970	c.748G>A	c.(748-750)Ggc>Agc	p.G250S	RAB40C_ENST00000248139.3_Missense_Mutation_p.G250S|RAB40C_ENST00000539661.1_Missense_Mutation_p.G250S|RAB40C_ENST00000538492.1_Missense_Mutation_p.G250S	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	250					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GGCCGGGGGCGGCGGCAGCAA	0.642000													26	32					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99358477	99358477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:99358477C>T	ENST00000376503.5	-	16	1235	c.1180G>A	c.(1180-1182)Gaa>Aaa	p.E394K		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	394					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	ATTTGGACTTCGTTTCCTTTG	0.378000													10	15					0	0	1	0	0
CXCR5	643	broad.mit.edu	37	11	118754686	118754686	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:118754686G>A	ENST00000292174.4	+	1	212	c.36G>A	c.(34-36)gaG>gaA	p.E12E		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	12					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		TGGACCTCGAGAACCTGGAGG	0.582000													8	0					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36222832	36222832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36222832C>T	ENST00000222270.7	+	27	5461	c.5461C>T	c.(5461-5463)Cca>Tca	p.P1821S	WBP7_ENST00000420124.1_Missense_Mutation_p.P1821S|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					TGAGGACCCCCCACTGGACAC	0.622000													16	20					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163292019	163292019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163292019C>T	ENST00000332142.5	-	8	1742	c.1643G>A	c.(1642-1644)gGc>gAc	p.G548D	KCNH7_ENST00000328032.4_Missense_Mutation_p.G541D	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	548					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)	AACAGCAGCGCCATATTCTGA	0.463000													14	32					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62161532	62161532	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62161532G>A	ENST00000217185.2	-	7	1094	c.1067C>T	c.(1066-1068)cCt>cTt	p.P356L	PTK6_ENST00000542869.1_Missense_Mutation_p.P255L	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	356	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			GAGCGCTTCAGGGGCCGTCCA	0.602000													10	93					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6194297	6194297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:6194297C>T	ENST00000262450.3	-	20	3134	c.3035G>A	c.(3034-3036)gGc>gAc	p.G1012D	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1012					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ATCGTAGGAGCCATTGGGCAA	0.597000													32	70					0	0	1	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42132776	42132776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42132776G>A	ENST00000382448.4	+	8	839	c.830G>A	c.(829-831)aGg>aAg	p.R277K	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.R46K|JMJD7-PLA2G4B_ENST00000458483.1_Missense_Mutation_p.R46K|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.R277K	NM_005090.3	NP_005081.1	P0C869	PA24B_HUMAN		46	PLA2c.				arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						TGCAGCCACAGGCTCCAGACA	0.617000													37	48					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42602052	42602052	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42602052G>A	ENST00000358131.5	+	2	380	c.172G>A	c.(172-174)Gag>Aag	p.E58K	TOX2_ENST00000372999.1_Missense_Mutation_p.E7K|TOX2_ENST00000341197.3_Missense_Mutation_p.E49K|TOX2_ENST00000423191.1_Missense_Mutation_p.E7K	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	58					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CGGAAACCCAGAGCTCCTGTC	0.542000													30	34					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89941810	89941810	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:89941810C>T	ENST00000405460.2	+	16	3020	c.2924C>T	c.(2923-2925)aCc>aTc	p.T975I		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	975	Calx-beta 7.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAGAATTTACCGTTATCCTA	0.338000													6	10					0	0	1	0	0
IL21R	50615	broad.mit.edu	37	16	27456587	27456587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:27456587C>T	ENST00000337929.3	+	7	1248	c.775C>T	c.(775-777)Cca>Tca	p.P259S	IL21R_ENST00000564089.1_Missense_Mutation_p.P259S|IL21R_ENST00000395755.1_Missense_Mutation_p.P259S|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395754.4_Missense_Mutation_p.P259S	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	259					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GAAGACCCATCCATTGTGGAG	0.552000			T	BCL6	NHL								9	19					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275896	186275896	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:186275896G>A	ENST00000445192.2	+	7	1090	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	PRG4_ENST00000367486.3_Missense_Mutation_p.E306K|PRG4_ENST00000367484.3_Missense_Mutation_p.E308K|PRG4_ENST00000367483.4_Missense_Mutation_p.E308K|PRG4_ENST00000367485.4_Missense_Mutation_p.E256K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	349	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACTCCCAAGGAGCCCACGCC	0.552000													40	66					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54141904	54141904	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:54141904C>T	ENST00000265572.3	-	4	1393	c.1096G>A	c.(1096-1098)Gat>Aat	p.D366N	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.D366N|OPRK1_ENST00000524278.1_Missense_Mutation_p.D277N	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	366					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TAAGCAGGATCCTGAACTGTA	0.478000													27	39					0	0	1	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587570	42587570	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:42587570G>A	ENST00000289957.2	+	5	1248	c.1120G>A	c.(1120-1122)Gaa>Aaa	p.E374K		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	374					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAAGTCCTCGAAAAAAAGAA	0.388000													6	41					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11633007	11633007	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:11633007G>A	ENST00000423059.3	-	3	1396	c.1145C>T	c.(1144-1146)cCt>cTt	p.P382L		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	382	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		AGTGCCTGCAGGGGACACCAT	0.502000										HNSCC(18;0.044)			10	84					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112339	248112339	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248112339C>T	ENST00000357191.3	+	1	180	c.180C>T	c.(178-180)ttC>ttT	p.F60F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCATGTATTTCCTACTGAGTC	0.413000													61	367					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61832561	61832561	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61832561C>T	ENST00000280772.1	-	37	8269	c.8078G>A	c.(8077-8079)gGa>gAa	p.G2693E	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2693					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGAAATACTTCCTTTGGCTTC	0.502000													60	33					0	0	1	0	0
RNF111	54778	broad.mit.edu	37	15	59373233	59373233	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:59373233T>C	ENST00000348370.4	+	8	2480	c.2047T>C	c.(2047-2049)Tat>Cat	p.Y683H	RNF111_ENST00000561186.1_Missense_Mutation_p.Y683H|RNF111_ENST00000559209.1_Missense_Mutation_p.Y683H|RNF111_ENST00000557998.1_Missense_Mutation_p.Y683H|RNF111_ENST00000434298.1_Missense_Mutation_p.Y683H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	683	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		TCAAGTGGATTATGTTATTCC	0.498000													39	96					0	0	1	0	0
CWF19L2	143884	broad.mit.edu	37	11	107207325	107207325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:107207325G>A	ENST00000282251.5	-	15	2344	c.2317C>T	c.(2317-2319)Ctt>Ttt	p.L773F		NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	773							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCCTTGGGAAGAGGAATACAT	0.323000													8	19					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3085292	3085292	+	Silent	SNP	C	C	T	rs144260163	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:3085292C>T	ENST00000397461.1	+	22	3099	c.2715C>T	c.(2713-2715)ccC>ccT	p.P905P	CNTN4_ENST00000418658.1_Silent_p.P905P|CNTN4_ENST00000397459.2_Silent_p.P577P|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000358480.3_Silent_p.P686P|CNTN4_ENST00000448906.2_Silent_p.P577P|CNTN4_ENST00000427331.1_Silent_p.P905P	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	905	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTCAACCCCCCGGAAACATCA	0.373000													5	22					0	0	1	0	0
RASSF1	11186	broad.mit.edu	37	3	50369288	50369288	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:50369288C>T	ENST00000359365.4	-	4	569		c.e4-1		RASSF1_ENST00000327761.3_Splice_Site|RASSF1_ENST00000357043.2_Splice_Site|RASSF1_ENST00000395126.3_Splice_Site	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1						cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGTCCTTGTTCTAAAGAAATA	0.507000													14	28					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52496382	52496382	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52496382G>A	ENST00000216286.5	-	10	2283	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S	NID2_ENST00000541773.1_Missense_Mutation_p.P709S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	762	EGF-like 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCATAGCAAGGATTCCCCGGA	0.517000													16	34					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22476212	22476212	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22476212C>T	ENST00000390447.3	+	0	259																											GTATGAAACCCGTGATACTAC	0.418000													10	27					0	0	1	0	0
NUFIP2	57532	broad.mit.edu	37	17	27613735	27613735	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:27613735T>A	ENST00000225388.4	-	2	1335	c.1277A>T	c.(1276-1278)aAt>aTt	p.N426I	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	426						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AGGATAAACATTTCCATCAGT	0.468000													22	41					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76456268	76456268	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76456268C>T	ENST00000389840.5	-	59	9493	c.9369G>A	c.(9367-9369)caG>caA	p.Q3123Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.Q3132Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCAGAGCCTCCTGGGCTGCCA	0.577000													7	12					0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139785	178139785	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178139785G>A	ENST00000335815.2	-	5	1291	c.1094C>T	c.(1093-1095)tCt>tTt	p.S365F		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	365					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		GGATGAGCTAGACTTAAAGGT	0.418000													33	18					0	0	1	0	0
FBXW5	54461	broad.mit.edu	37	9	139835912	139835912	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139835912G>A	ENST00000325285.3	-	8	1327	c.1248C>T	c.(1246-1248)taC>taT	p.Y416Y	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	416							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		TCACGTACAGGTACCTGGGCG	0.692000													8	21					0	0	1	0	0
SPATA31E1	286234	broad.mit.edu	37	9	90501747	90501747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:90501747C>T	ENST00000325643.5	+	4	2411	c.2345C>T	c.(2344-2346)cCc>cTc	p.P782L		NM_178828.4	NP_849150.3			SPATA31 subfamily E, member 1																		GGCTGGATCCCCATGCCTGTG	0.567000													25	3					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85674877	85674877	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:85674877G>A	ENST00000322366.6	-	35	6119	c.5712C>T	c.(5710-5712)ccC>ccT	p.P1904P	WDFY3_ENST00000295888.4_Silent_p.P1904P			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1904						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GAATATTGAAGGGGAAGACGG	0.458000													16	58					0	0	1	0	0
TNFSF9	8744	broad.mit.edu	37	19	6535057	6535057	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6535057C>T	ENST00000245817.3	+	3	783	c.745C>T	c.(745-747)Cct>Tct	p.P249S		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	249					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						AGCCGGACTCCCTTCACCGAG	0.632000													7	16					0	0	1	0	0
MIR526A2	574486	broad.mit.edu	37	19	54230225	54230225	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54230225C>T	ENST00000390198.1	+	0	50					NR_030208.1																						GAACATGCATCCTTTCAGAGG	0.418000													24	66					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887330	12887330	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:12887330C>T	ENST00000535591.1	-	3	722	c.527G>A	c.(526-528)tGg>tAg	p.W176*		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	176										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGGCAGTATCCACTTGCAATT	0.478000													106	225					0	0	1	0	0
OR10V1	390201	broad.mit.edu	37	11	59481045	59481045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:59481045G>A	ENST00000307552.2	-	1	292	c.274C>T	c.(274-276)Cct>Tct	p.P92S	STX3_ENST00000300150.7_5'UTR	NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATGGAAACAGGAGTTTTGCCC	0.458000													9	38					0	0	1	0	0
SLC47A1	55244	broad.mit.edu	37	17	19459315	19459315	+	Silent	SNP	C	C	T	rs138282585	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:19459315C>T	ENST00000270570.4	+	10	947	c.861C>T	c.(859-861)ctC>ctT	p.L287L	SLC47A1_ENST00000395585.1_Silent_p.L287L|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000457293.1_Silent_p.L287L|SLC47A1_ENST00000571335.1_Silent_p.L92L|SLC47A1_ENST00000436810.2_Silent_p.L264L|SLC47A1_ENST00000575023.1_Intron	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	287						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CAGGCATCCTCGGCATGGTGG	0.592000													9	30					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290889	58290889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58290889C>T	ENST00000391702.3	+	4	1172	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396154.2_Missense_Mutation_p.H312Y|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000599802.1_Intron	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGCGAGTTCATACTGGAGA	0.448000													18	41					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466462	56466462	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56466462G>A	ENST00000291971.3	+	3	1109	c.1038G>A	c.(1036-1038)ctG>ctA	p.L346L	NLRP8_ENST00000590542.1_Silent_p.L346L	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	346	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCCCTTGCTGAAATGTCCCT	0.463000													22	48					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134120158	134120158	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:134120158C>T	ENST00000452510.2	+	10	1427	c.1269C>T	c.(1267-1269)acC>acT	p.T423T	DDX46_ENST00000354283.4_Silent_p.T423T|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	423	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGAAAGACCATTGCTTTTC	0.423000													18	46					0	0	1	0	0
SFTPB	6439	broad.mit.edu	37	2	85892729	85892729	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:85892729C>T	ENST00000393822.3	-	6	717	c.618_splice	c.e6+1	p.Q206_splice	SFTPB_ENST00000409383.1_Splice_Site_p.Q206_splice|SFTPB_ENST00000342375.3_Splice_Site_p.Q194_splice|SFTPB_ENST00000519937.2_Splice_Site_p.Q194_splice			P07988	PSPB_HUMAN	surfactant protein B	194	Saposin B-type 2.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CCTCCCTCACCTGTGTGTGAG	0.677000													16	42					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150911719	150911719	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:150911719C>T	ENST00000329903.4	+	6	777	c.744C>T	c.(742-744)aaC>aaT	p.N248N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	248					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGCGCTTCAACCGCCTGCTGC	0.532000													58	7					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45773598	45773598	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45773598C>T	ENST00000397928.1	+	1	460	c.15C>T	c.(13-15)gcC>gcT	p.A5A	TRPM2_ENST00000300481.9_Silent_p.A5A|TRPM2_ENST00000300482.5_Silent_p.A5A|TRPM2_ENST00000397932.2_Silent_p.A5A	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	5						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGCCCTCAGCCCTGAGGAAAG	0.632000													7	2					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11039148	11039148	+	RNA	SNP	C	C	T	rs71292113		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:11039148C>T	ENST00000470054.1	-	0	1055									B melanoma antigen family, member 2															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)		GAAGTGCTTTCCTCATGTGGG	0.403000													39	249					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273088	18273088	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18273088G>A	ENST00000593731.1	+	8	1538	c.978G>A	c.(976-978)caG>caA	p.Q326Q	PIK3R2_ENST00000222254.7_Silent_p.Q326Q			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	326					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCTCCCTGCAGGATGCTGAGT	0.637000													10	10					0	0	1	0	0
FRS2	10818	broad.mit.edu	37	12	69967820	69967820	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:69967820A>G	ENST00000299293.2	+	10	1122	c.612A>G	c.(610-612)gaA>gaG	p.E204E	FRS2_ENST00000550389.1_Silent_p.E204E|FRS2_ENST00000549921.1_Silent_p.E204E|FRS2_ENST00000397997.2_Silent_p.E204E	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	204					activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			GTGTGCAAGAAGAGCGGAAAA	0.393000													27	43					0	0	1	0	0
OR52H1	390067	broad.mit.edu	37	11	5566080	5566080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5566080G>A	ENST00000322653.4	-	1	699	c.674C>T	c.(673-675)tCc>tTc	p.S225F	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGTGCGTAGGAAACAGCAAT	0.512000													12	55					0	0	1	0	0
C2CD2L	9854	broad.mit.edu	37	11	118986927	118986927	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:118986927C>T	ENST00000336702.3	+	14	2444	c.2085C>T	c.(2083-2085)tcC>tcT	p.S695S	C2CD2L_ENST00000528586.1_3'UTR	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN	C2CD2-like	694						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCTTCAAATCCAAACCCAAGG	0.577000													17	4					0	0	1	0	0
DAO	1610	broad.mit.edu	37	12	109288127	109288127	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109288127G>A	ENST00000228476.3	+	7	800	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	DAO_ENST00000551281.1_Missense_Mutation_p.R133Q	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	199					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CAGCCAGGCCGGGGGCAGATC	0.542000													14	12					0	0	1	0	0
CSNK2A3	283106	broad.mit.edu	37	11	11373733	11373733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:11373733G>A	ENST00000528848.2	-	1	1171	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W	GALNT18_ENST00000227756.4_Intron	NM_001256686.1	NP_001243615.1			casein kinase 2, alpha 3 polypeptide																		GCAGTAAGCCGTGACTGGTGG	0.537000													9	62					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107863562	107863562	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:107863562A>G	ENST00000328300.6	+	31	2827	c.2583A>G	c.(2581-2583)gaA>gaG	p.E861E	COL4A5_ENST00000361603.2_Silent_p.E861E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	861	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCCAGGTGAAAGAGGCAGTC	0.502000									Alport syndrome with Diffuse Leiomyomatosis				48	4					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230953	21230953	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21230953C>T	ENST00000233242.1	-	26	8914	c.8787G>A	c.(8785-8787)tgG>tgA	p.W2929*		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2929					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGGCCCATTTCCATGACCCTT	0.478000													166	808					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21687040	21687040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:21687040C>T	ENST00000444366.2	+	1	180	c.179C>T	c.(178-180)tCc>tTc	p.S60F	PAX1_ENST00000398485.2_Intron|PAX1_ENST00000460221.1_Intron			P15863	PAX1_HUMAN	paired box 1	83					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GGTGTTTTCTCCCCCTCCGGC	0.667000													17	49					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7798689	7798689	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7798689C>T	ENST00000380358.4	+	10	1714	c.1713C>T	c.(1711-1713)atC>atT	p.I571I	CHD3_ENST00000330494.7_Silent_p.I512I|CHD3_ENST00000358181.4_Silent_p.I512I	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	512	Chromo 1.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGCAGAAGATCCTACATTGGC	0.557000													25	97					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357123	20357123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:20357123C>T	ENST00000377252.3	+	4	1337	c.496C>T	c.(496-498)Cca>Tca	p.P166S	PLXDC2_ENST00000377242.3_Missense_Mutation_p.P117S|PLXDC2_ENST00000377238.2_3'UTR	NM_032812.7	NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	166						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CTTCGATTTTCCATTTTATGG	0.393000													9	39					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146697106	146697106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:146697106C>T	ENST00000508784.1	-	10	2755	c.2528G>A	c.(2527-2529)aGa>aAa	p.R843K	ZNF827_ENST00000513320.1_Missense_Mutation_p.R493K|ZNF827_ENST00000379448.4_Missense_Mutation_p.R843K			Q17R98	ZN827_HUMAN	zinc finger protein 827	843					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TTTGTATTTTCTTTCCTCTGG	0.463000													37	46					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183714115	183714115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:183714115C>T	ENST00000511685.1	+	26	6413	c.6290C>T	c.(6289-6291)tCg>tTg	p.S2097L	TENM3_ENST00000406950.2_Missense_Mutation_p.S2097L					teneurin transmembrane protein 3																		ATATTCAGGTCGCTCATGTAC	0.393000													10	21					0	0	1	0	0
PSME2	5721	broad.mit.edu	37	14	24613650	24613650	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24613650G>A	ENST00000216802.5	-	7	1027	c.388C>T	c.(388-390)Ccc>Tcc	p.P130S	PSME2_ENST00000560410.1_Missense_Mutation_p.P119S|PSME2_ENST00000471700.2_5'UTR	NM_002818.2	NP_002809.2	Q9UL46	PSME2_HUMAN	proteasome (prosome, macropain) activator subunit 2 (PA28 beta)	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|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|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|S phase of mitotic cell cycle|viral reproduction	proteasome activator complex				endometrium(1)|lung(3)|prostate(2)	6				GBM - Glioblastoma multiforme(265;0.00839)		TCAATCTTGGGGATCAGGTGT	0.418000													21	36					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39535886	39535886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39535886C>T	ENST00000394001.1	-	4	842	c.812G>A	c.(811-813)aGg>aAg	p.R271K		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	271	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				ATACTGACTCCTGGTCTCGTT	0.597000													9	56					0	0	1	0	0
RAB36	9609	broad.mit.edu	37	22	23498191	23498191	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23498191C>T	ENST00000263116.2	+	6	604	c.564C>T	c.(562-564)atC>atT	p.I188I	RAB36_ENST00000341989.4_Silent_p.I166I	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	188					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		TCAAGTGCATCGCATCTGCCT	0.592000													10	10					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65260143	65260143	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:65260143G>A	ENST00000389722.3	-	13	2291	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F	SPTB_ENST00000389721.5_Silent_p.F746F|SPTB_ENST00000542895.1_Silent_p.F746F|SPTB_ENST00000389720.3_Silent_p.F746F|SPTB_ENST00000556626.1_Silent_p.F746F	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	746					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTGGAACTGGAAAAAGTTCT	0.607000													22	17					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86479781	86479781	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86479781A>G	ENST00000439827.1	+	4	1591	c.1420A>G	c.(1420-1422)Acc>Gcc	p.T474A	GRM3_ENST00000536043.1_Silent_p.Q701Q|GRM3_ENST00000394720.2_Missense_Mutation_p.T472A|GRM3_ENST00000361669.2_Silent_p.Q829Q|GRM3_ENST00000546348.1_Silent_p.Q421Q			Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	0					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TCCTGTTTCAACCCCAGAAGA	0.493000													43	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422801	179422801	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179422801C>T	ENST00000589042.1	-	328	87504	c.87280G>A	c.(87280-87282)Gaa>Aaa	p.E29094K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26526K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E20029K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E20154K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E20221K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E27453K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27453	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAGTAATTTCGGTATTAAAT	0.428000													26	63					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285890	152285890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152285890C>T	ENST00000368799.1	-	3	1507	c.1472G>A	c.(1471-1473)gGa>gAa	p.G491E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	491	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTTGTCTTCCTCCAGTGCT	0.607000									Ichthyosis				153	220					0	0	1	0	0
UNC80	285175	broad.mit.edu	37	2	210642244	210642244	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:210642244C>T	ENST00000439458.1	+	4	641	c.561C>T	c.(559-561)ctC>ctT	p.L187L	UNC80_ENST00000272845.5_Silent_p.L187L|UNC80_ENST00000478701.1_3'UTR	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	187						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						CTGTGGAGCTCTTCGTGTTTC	0.507000													22	51					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282093	152282093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152282093C>T	ENST00000368799.1	-	3	5304	c.5269G>A	c.(5269-5271)Gaa>Aaa	p.E1757K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1757	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGACCTTTCCCCTGACTGG	0.597000									Ichthyosis				139	226					0	0	1	0	0
SLC6A5	9152	broad.mit.edu	37	11	20668406	20668406	+	Missense_Mutation	SNP	G	G	A	rs148559046		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20668406G>A	ENST00000525748.1	+	14	2269	c.1996G>A	c.(1996-1998)Gag>Aag	p.E666K	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	666					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGAAGATATAGAGATGATGAT	0.448000													10	38					0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1443140	1443140	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:1443140A>T	ENST00000446702.2	+	21	3355	c.2728A>T	c.(2728-2730)Att>Ttt	p.I910F	CNTN6_ENST00000350110.2_Missense_Mutation_p.I910F|CNTN6_ENST00000539053.1_Missense_Mutation_p.I838F			Q9UQ52	CNTN6_HUMAN	contactin 6	910	Fibronectin type-III 4.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		ACCAGCAAACATTGCCTGGAA	0.373000													20	6					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167163562	167163562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:167163562C>T	ENST00000303354.6	-	3	621	c.281G>A	c.(280-282)gGg>gAg	p.G94E	SCN9A_ENST00000409435.1_Missense_Mutation_p.G94E|SCN9A_ENST00000409672.1_Missense_Mutation_p.G94E|SCN9A_ENST00000375387.4_Missense_Mutation_p.G94E			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	94						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GATTGTTTTCCCTTTGTTCAA	0.323000													6	10					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1093938	1093938	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1093938G>A	ENST00000308624.5	+	3	396	c.267_splice	c.e3+1	p.K89_splice	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	89	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGAGTATAAAGGTATGGAAAT	0.388000													33	221					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117564216	117564216	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:117564216C>T	ENST00000256652.4	+	7	2097	c.2039C>T	c.(2038-2040)tCa>tTa	p.S680L	CD101_ENST00000369470.1_Missense_Mutation_p.S680L	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	680	Ig-like C2-type 6.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAAGTGAATTCAAGGAGTCAA	0.368000													5	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179583222	179583222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179583222C>T	ENST00000589042.1	-	85	24835	c.24611G>A	c.(24610-24612)tGg>tAg	p.W8204*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W6960*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.W7887*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7887	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCTTTATCCAGCTCACTGA	0.428000													12	32					0	0	1	0	0
CYP1A2	1544	broad.mit.edu	37	15	75042389	75042389	+	Missense_Mutation	SNP	G	G	A	rs34067076	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75042389G>A	ENST00000343932.4	+	2	373	c.310G>A	c.(310-312)Gat>Aat	p.D104N		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	104			D -> N (in dbSNP:rs34067076).		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.D104N(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	GCAGGGCGACGATTTCAAGGG	0.672000													20	40					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119234529	119234529	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119234529T>C	ENST00000296498.3	-	7	1598	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	439	SRCR 3.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TTCAAAATGGTTGGCAGATGC	0.443000													45	31					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89585970	89585970	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:89585970C>T	ENST00000370466.3	-	4	588	c.318_splice	c.e4-1	p.G107_splice		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	107					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTCATTGTCACCCTGTAAGTC	0.463000													13	17					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71509961	71509961	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71509961G>A	ENST00000396073.3	+	9	3099	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	940					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			AGAGAAGAGGGAAAGCCAAAA	0.458000													60	41					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7581377	7581377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:7581377G>A	ENST00000379802.3	+	23	5295	c.4954G>A	c.(4954-4956)Gaa>Aaa	p.E1652K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1652	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGGACCCAGGAAGAGCTGAG	0.557000													26	135					0	0	1	0	0
FAM227B	196951	broad.mit.edu	37	15	49860536	49860536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:49860536C>T	ENST00000299338.6	-	9	956	c.653G>A	c.(652-654)aGa>aAa	p.R218K	FAM227B_ENST00000561064.1_Intron	NM_152647.2	NP_689860.2			family with sequence similarity 227, member B																		TTGGTTTTCTCTGTCAGGCTT	0.313000													14	25					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48309023	48309023	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:48309023C>T	ENST00000297423.4	+	6	997	c.613C>T	c.(613-615)Cct>Tct	p.P205S	SPIDR_ENST00000518074.1_Missense_Mutation_p.P145S|SPIDR_ENST00000541342.1_Missense_Mutation_p.P135S|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		TTCAGAATCCCCTCACAAATA	0.363000													21	45					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101062676	101062676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101062676G>A	ENST00000394095.2	-	14	2013	c.1960C>T	c.(1960-1962)Ccg>Tcg	p.P654S	SENP7_ENST00000358203.3_Missense_Mutation_p.P490S|SENP7_ENST00000314261.7_Missense_Mutation_p.P588S|SENP7_ENST00000348610.3_Missense_Mutation_p.P621S|SENP7_ENST00000394091.1_Missense_Mutation_p.P490S|SENP7_ENST00000394094.2_Missense_Mutation_p.P589S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	654					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAAGACAACGGGTAAGAAAGC	0.358000													7	31					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574525	22574525	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22574525G>A	ENST00000357774.5	-	4	1633	c.1512C>T	c.(1510-1512)caC>caT	p.H504H		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	504					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GTGTAGTAAGGTGTGAGGACT	0.388000													18	17					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40368368	40368368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40368368G>A	ENST00000221347.6	-	28	12987	c.12980C>T	c.(12979-12981)tCc>tTc	p.S4327F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4327						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCACGTAGGAAGCCAGAGC	0.632000													42	219					0	0	1	0	0
ZCWPW1	55063	broad.mit.edu	37	7	100001806	100001806	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100001806C>T	ENST00000398027.2	-	14	1560	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.R318K|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.R439K|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.R318K	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	438							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTACCTTTTCTTTCCCCATT	0.428000													8	29					0	0	1	0	0
FAM73B	84895	broad.mit.edu	37	9	131804710	131804710	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:131804710T>C	ENST00000277475.5	+	3	410	c.224T>C	c.(223-225)gTt>gCt	p.V75A	FAM73B_ENST00000406926.2_Missense_Mutation_p.V75A|FAM73B_ENST00000474534.1_3'UTR|FAM73B_ENST00000358369.4_Missense_Mutation_p.V75A			Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	75						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						AAGAAGCAGGTTGGTCCCGAG	0.647000													4	10					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52812994	52812994	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52812994G>A	ENST00000273283.2	+	4	366	c.342G>A	c.(340-342)aaG>aaA	p.K114K	ITIH1_ENST00000540715.1_5'UTR|ITIH1_ENST00000542827.1_Silent_p.K114K	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	114	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GAGACATAAAGGACAAGGTGA	0.542000													17	50					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17752324	17752324	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17752324G>A	ENST00000428389.2	-	22	2777	c.2778C>T	c.(2776-2778)gtC>gtT	p.V926V	UNC13A_ENST00000252773.7_Silent_p.V838V|UNC13A_ENST00000551649.1_Silent_p.V838V|UNC13A_ENST00000550896.1_Silent_p.V836V|UNC13A_ENST00000552293.1_Silent_p.V838V|UNC13A_ENST00000519716.2_Silent_p.V838V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	838					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGATCTTCACGACCCCATTGT	0.577000													25	34					0	0	1	0	0
CHORDC1	26973	broad.mit.edu	37	11	89944431	89944431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:89944431C>T	ENST00000320585.6	-	5	794	c.385G>A	c.(385-387)Gca>Aca	p.A129T	CHORDC1_ENST00000457199.2_Missense_Mutation_p.A110T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	129	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTATCAAGTGCTTGTTTTAGG	0.289000													40	70					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130067816	130067816	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:130067816G>A	ENST00000278742.5	+	12	1853	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	479	LDL-receptor class A 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CGACTGCACCGACCACAGCGA	0.697000													6	1					0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149513468	149513468	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149513468G>A	ENST00000261799.4	-	5	1204	c.735C>T	c.(733-735)ttC>ttT	p.F245F		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	245	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATGTCCACTCGAAGTTGACCA	0.572000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								34	22					0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179751867	179751867	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:179751867G>A	ENST00000253778.8	-	8	794	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	209	Glutamine amidotransferase type-2.				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|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TATTTGCTCCGGACTCCGATG	0.547000													19	81					0	0	1	0	0
GOLGA8A	23015	broad.mit.edu	37	15	34673710	34673710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34673710G>A	ENST00000543376.1	-	23	4039	c.1285C>T	c.(1285-1287)Ctt>Ttt	p.L429F	GOLGA8A_ENST00000359187.4_Missense_Mutation_p.L572F|GOLGA8A_ENST00000360553.3_Missense_Mutation_p.L572F|GOLGA8A_ENST00000432566.2_Missense_Mutation_p.L602F			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	600						Golgi cisterna membrane							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATCTCACCAAGGAGCTGCACG	0.592000													19	53					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830773	13830773	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13830773C>T	ENST00000265104.4	-	36	6098	c.5994G>A	c.(5992-5994)ggG>ggA	p.G1998G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1998	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGACGTATTTCCCGAGGCATC	0.488000									Kartagener syndrome				37	24					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298290	36298290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:36298290C>T	ENST00000437635.2	-	2	355	c.178G>A	c.(178-180)Gac>Aac	p.D60N		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	60										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GCTGGGCTGTCTGAATGTCTG	0.637000													21	82					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20081642	20081642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:20081642C>T	ENST00000379651.3	-	3	280	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	MAP7D2_ENST00000452324.3_Missense_Mutation_p.E44K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.E88K|MAP7D2_ENST00000379643.5_Missense_Mutation_p.E88K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	88										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						ATTTGCTTTTCGTACTGCAGC	0.527000													31	7					0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10416141	10416141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10416141G>A	ENST00000403903.3	-	3	1821	c.623C>T	c.(622-624)tCc>tTc	p.S208F	CTD-2369P2.10_ENST00000452032.2_3'UTR|FDX1L_ENST00000541276.1_3'UTR|ZGLP1_ENST00000403352.1_Missense_Mutation_p.S124F	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	208					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GGTCCGACAGGAAGCACAGCG	0.617000													4	5					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2409304	2409304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:2409304C>T	ENST00000360876.4	+	10	1657	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	EIF3B_ENST00000397011.2_Missense_Mutation_p.P534L	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	534					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GATAGGACTCCGAAAGGCACC	0.483000													55	88					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47030212	47030212	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47030212G>A	ENST00000450053.3	+	2	284	c.105G>A	c.(103-105)aaG>aaA	p.K35K	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.K35K	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	35							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGCCTTCAAGAAGAGCATCT	0.597000													38	92					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153719773	153719773	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153719773G>A	ENST00000318967.2	+	5	1019	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	INTS3_ENST00000456435.1_5'UTR|RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.E151K	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	151					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GTTGGTACGGGAACTGGTGAA	0.453000													16	62					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241889	3241889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:3241889G>A	ENST00000217939.6	-	5	1991	c.1837C>T	c.(1837-1839)Ctt>Ttt	p.L613F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	613	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGTTTGGAAGAATCCAGCTA	0.453000													11	15					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60688989	60688989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:60688989G>A	ENST00000335712.6	-	4	1285	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.P319L|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.P353L|BCL11A_ENST00000538214.1_Missense_Mutation_p.P319L	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	353	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCCAGGAAGGGCGGCTTGCT	0.652000			T	IGH@	B-CLL								87	574					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55098686	55098686	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55098686C>T	ENST00000251377.3	+	9	1458	c.1325C>T	c.(1324-1326)cCc>cTc	p.P442L	LILRA2_ENST00000391738.3_Missense_Mutation_p.P442L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P425L|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.P413L|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GGCCAACACCCCCAGGATTAC	0.592000													40	39					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120431	94120431	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:94120431G>A	ENST00000369303.4	-	3	804	c.620C>T	c.(619-621)tCc>tTc	p.S207F	EPHA7_ENST00000369297.1_Missense_Mutation_p.S207F	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	207	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.S207F(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCAATAATGGACCAGCACTT	0.433000													11	25					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14647118	14647118	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:14647118G>A	ENST00000403951.2	-	17	1796	c.1377C>T	c.(1375-1377)ttC>ttT	p.F459F	DGKB_ENST00000407950.1_Silent_p.F451F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Silent_p.F459F|DGKB_ENST00000399322.3_Silent_p.F459F|DGKB_ENST00000444700.2_Silent_p.F440F|DGKB_ENST00000258767.5_Silent_p.F459F|DGKB_ENST00000402815.1_Silent_p.F458F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	459	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	ATAGATACTGGAATTTTCTGT	0.284000													7	71					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17538995	17538995	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:17538995C>G	ENST00000527720.1	-	14	1388	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	USH1C_ENST00000527020.1_Missense_Mutation_p.E394Q|USH1C_ENST00000318024.4_Missense_Mutation_p.E413Q|USH1C_ENST00000005226.7_Intron			Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	413					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCTGCGGGCTCGAGCTCAGGT	0.617000													3	6					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96813607	96813607	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96813607G>A	ENST00000359933.4	-	2	1127	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	78										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GAACTGACAGGGAAATTGACT	0.458000													9	17					0	0	1	0	0
CXXC11	285093	broad.mit.edu	37	2	242814492	242814492	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:242814492C>T	ENST00000343216.3	+	2	813	c.785C>T	c.(784-786)cCg>cTg	p.P262L		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	262						integral to membrane											AAAGGCTTCCCGGTGGCCATT	0.652000													10	37					0	0	1	0	0
F2	2147	broad.mit.edu	37	11	46760877	46760877	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:46760877G>A	ENST00000311907.5	+	14	1844	c.1788G>A	c.(1786-1788)cgG>cgA	p.R596R	F2_ENST00000530231.1_Silent_p.R557R	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	596	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGTGACCGGGATGGGAAAT	0.478000													44	37					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86374086	86374086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:86374086G>A	ENST00000604798.1	-	8	1622	c.418C>T	c.(418-420)Cac>Tac	p.H140Y	MGAT4C_ENST00000552808.2_Missense_Mutation_p.H140Y|MGAT4C_ENST00000548651.1_Missense_Mutation_p.H140Y|MGAT4C_ENST00000549405.2_Missense_Mutation_p.H140Y|MGAT4C_ENST00000332156.1_Missense_Mutation_p.H140Y|MGAT4C_ENST00000393205.2_Missense_Mutation_p.H169Y|MGAT4C_ENST00000552435.2_Intron			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	140					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCTGCTAGGTGAACCACCACT	0.373000													27	34					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84233937	84233937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:84233937G>A	ENST00000324537.5	+	6	682	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	SH3GL3_ENST00000535412.1_Missense_Mutation_p.E56K|SH3GL3_ENST00000427482.2_Missense_Mutation_p.E56K|SH3GL3_ENST00000434347.1_Missense_Mutation_p.E64K			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	56	BAR.|Required for dimerization upon membrane association (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAAAACCACTGAATATCTTCA	0.289000													11	29					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202343136	202343136	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:202343136C>T	ENST00000194530.3	+	10	1247	c.882C>T	c.(880-882)ttC>ttT	p.F294F	STRADB_ENST00000392249.2_Silent_p.F294F	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	294	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TCAGTATTTTCCCTCAATCAG	0.398000													16	32					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13896136	13896136	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:13896136C>T	ENST00000285018.4	-	3	767	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	155					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TAGCGGATGTCGGCAGAGCAG	0.607000													115	36					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083399	114083399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:114083399C>T	ENST00000356501.4	-	4	443	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	ADPRHL1_ENST00000375418.3_Missense_Mutation_p.G172S	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	172					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CACAGGGAGCCCAGGAAGCCT	0.692000													4	14					0	0	1	0	0
MROH5	389690	broad.mit.edu	37	8	142490449	142490449	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:142490449G>A	ENST00000430863.1	-	0	930					NM_207414.2	NP_997297.2			maestro heat-like repeat family member 5																		ACCTTCTCAGGGGACTGCTCC	0.637000													8	8					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122839846	122839846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:122839846G>A	ENST00000358808.2	-	6	1173	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F	CLIP1_ENST00000540338.1_Missense_Mutation_p.S340F|CLIP1_ENST00000361654.4_Missense_Mutation_p.S340F|CLIP1_ENST00000302528.7_Missense_Mutation_p.S340F|CLIP1_ENST00000545889.1_Missense_Mutation_p.S41F|CLIP1_ENST00000537178.1_Missense_Mutation_p.S340F	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	340					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTAACGGGAGGAGGTTTCAGT	0.567000													27	33					0	0	1	0	0
TRAJ12	28743	broad.mit.edu	37	14	23000893	23000893	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23000893G>A	ENST00000390525.1	+	0	5																											ACTGTGGGATGGATAGCAGCT	0.453000													21	67					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	72020948	72020948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72020948G>A	ENST00000355327.3	+	9	1552	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	THSD4_ENST00000261862.6_Missense_Mutation_p.G473E|THSD4_ENST00000357769.4_Missense_Mutation_p.G113E|THSD4_ENST00000567838.1_3'UTR			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	473						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GATCGACCAGGAAAATACGAG	0.522000													78	93					0	0	1	0	0
ZNF652	22834	broad.mit.edu	37	17	47375953	47375953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:47375953G>A	ENST00000362063.2	-	6	1961	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L	ZNF652_ENST00000430262.2_Missense_Mutation_p.S548L	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	548	Mediates interaction with CBFA2T3.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			gtgcaggtgtgagaaggggtg	0.587000													21	25					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28157510	28157510	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:28157510A>G	ENST00000304658.5	-	9	1739	c.1239T>C	c.(1237-1239)ggT>ggC	p.G413G	XPO6_ENST00000565698.1_Silent_p.G399G	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	413					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						AAGAGAAGTAACCTTCATGAG	0.363000													40	23					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153190618	153190618	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:153190618G>A	ENST00000285900.5	+	16	2897	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	GRIA1_ENST00000518783.1_Missense_Mutation_p.E862K|GRIA1_ENST00000340592.5_Missense_Mutation_p.E852K|GRIA1_ENST00000521843.2_Missense_Mutation_p.E783K|GRIA1_ENST00000518142.1_Missense_Mutation_p.E772K|GRIA1_ENST00000448073.4_Missense_Mutation_p.E862K	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	852					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATCCATCAACGAAGCCATACG	0.587000													52	20					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86114794	86114794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:86114794C>T	ENST00000383699.3	+	9	1637	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V	CADM2_ENST00000407528.2_Missense_Mutation_p.A368V|CADM2_ENST00000405615.2_Missense_Mutation_p.A370V	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	368	Thr-rich.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCTGACCATGCTCTCATAGGA	0.393000													11	37					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	86010691	86010691	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:86010691G>A	ENST00000383699.3	+	8	1491	c.864G>A	c.(862-864)agG>agA	p.R288R	CADM2_ENST00000407528.2_Silent_p.R279R|CADM2_ENST00000405615.2_Silent_p.R281R	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	279	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGAGTGGTAGGGAGCTAAACA	0.433000													15	57					0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28712647	28712647	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28712647G>A	ENST00000257197.3	-	14	2383	c.2122C>T	c.(2122-2124)Ctg>Ttg	p.L708L	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.L708L	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	708					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.L708L(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CATGTAAACAGAATACCTAAA	0.303000													26	7					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	BCL2L12_ENST00000246784.3_Silent_p.F17F|IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTTGGGTTTCCGGCCAGAGG	0.572000													41	52					0	0	1	0	0
EFHC1	114327	broad.mit.edu	37	6	52334254	52334254	+	Missense_Mutation	SNP	C	C	T	rs144389178	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:52334254C>T	ENST00000371068.5	+	7	1364	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	EFHC1_ENST00000538167.1_Missense_Mutation_p.R402C|EFHC1_ENST00000433625.2_Missense_Mutation_p.R330C	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	421	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					CAAGGTGCTTCGTTATTTGGC	0.343000													23	91					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10944672	10944672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10944672G>A	ENST00000298232.7	-	10	875	c.508C>T	c.(508-510)Ccc>Tcc	p.P170S	TPTE_ENST00000342420.5_Missense_Mutation_p.P150S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.P188S	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	188					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P188S(1)|p.P170S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATACCTGGGAATATTCCTA	0.284000													18	256					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886864	123886864	+	Missense_Mutation	SNP	G	G	A	rs141011157		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123886864G>A	ENST00000320891.4	+	1	583	c.583G>A	c.(583-585)Gtg>Atg	p.V195M		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	195			V -> E (in dbSNP:rs4084209).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTCAGCCAACGTGATGGTCAT	0.542000													57	10					0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687190	68687190	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:68687190C>T	ENST00000361320.4	+	2	1094	c.516C>T	c.(514-516)atC>atT	p.I172I	CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.1_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	172						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						TGAGAACCATCCCTGTGCGAA	0.483000													51	27					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110437383	110437383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:110437383C>T	ENST00000378402.5	+	24	2871	c.2767C>T	c.(2767-2769)Cat>Tat	p.H923Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	923			H -> R (in dbSNP:rs4735133).		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)			GTCAAAAATTCATATTCAAAG	0.318000										HNSCC(38;0.096)			7	13					0	0	1	0	0
KCNK1	3775	broad.mit.edu	37	1	233802629	233802629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233802629C>T	ENST00000366621.3	+	2	812	c.644C>T	c.(643-645)tCc>tTc	p.S215F	KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Missense_Mutation_p.S99F	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	215						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	TTCCTGGAATCCTTTTATTTT	0.488000													34	52					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7585083	7585083	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7585083C>T	ENST00000313599.3	-	4	752	c.695G>A	c.(694-696)tGg>tAg	p.W232*	CD163L1_ENST00000396630.1_Nonsense_Mutation_p.W232*|CD163L1_ENST00000416109.2_Nonsense_Mutation_p.W242*			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	232	SRCR 2.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCTGCAATTCCAGAGTGCCAA	0.433000													10	46					0	0	1	0	0
DCST1	149095	broad.mit.edu	37	1	155015275	155015275	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155015275C>T	ENST00000295542.1	+	9	1053	c.957C>T	c.(955-957)tcC>tcT	p.S319S	DCST1_ENST00000392480.1_Silent_p.S319S|DCST1_ENST00000423025.2_Silent_p.S294S|DCST1_ENST00000368419.2_Silent_p.S319S	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	319						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTACGACTCCCTCAACCAGT	0.572000													39	82					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415216	105415216	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105415216G>A	ENST00000333244.5	-	7	6691	c.6572C>T	c.(6571-6573)tCc>tTc	p.S2191F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2191						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTGCATGGAGGGGAGACT	0.622000													43	164					0	0	1	0	0
ZNF197	10168	broad.mit.edu	37	3	44685638	44685638	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:44685638A>G	ENST00000396058.1	+	5	3183	c.3016A>G	c.(3016-3018)Aaa>Gaa	p.K1006E	RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Missense_Mutation_p.K1006E|ZNF197_ENST00000383744.4_Intron|ZNF197_ENST00000383745.2_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	1006					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCTTCAACAGAAAATCCATAC	0.358000													22	7					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49655269	49655269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49655269C>T	ENST00000252825.4	-	4	2204	c.2018G>A	c.(2017-2019)tGc>tAc	p.C673Y	HRC_ENST00000595625.1_Missense_Mutation_p.C650Y	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	673	Metal-binding (Potential).				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		ACCTGGAGCGCAGACCGTTTC	0.692000													15	28					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201039419	201039419	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201039419T>G	ENST00000362061.3	-	17	2567	c.2341A>C	c.(2341-2343)Atc>Ctc	p.I781L	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I781L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	781					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGGCTGAAGATGAAGAAGGAG	0.587000													60	54					0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612527	20612527	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20612527C>T	ENST00000333629.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTGTGCTTCCTGGGCCTTC	0.527000													21	43					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863875	55863875	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55863875C>T	ENST00000327335.4	-	1	47	c.48G>A	c.(46-48)acG>acA	p.T16T	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GAGAATTATCCGTCAGTCCCA	0.353000													7	45					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141130635	141130635	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141130635C>T	ENST00000389484.3	-	69	11681	c.10710G>A	c.(10708-10710)tgG>tgA	p.W3570*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3570	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATCACATTTCCATTTTGCTG	0.358000										TSP Lung(27;0.18)			28	64					0	0	1	0	0
DAND5	199699	broad.mit.edu	37	19	13080480	13080480	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:13080480C>T	ENST00000317060.2	+	1	185	c.6C>T	c.(4-6)ctC>ctT	p.L2L	DAND5_ENST00000585548.1_Silent_p.L32L	NM_152654.2	NP_689867.1	Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	2						extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			agcagaTGCTCCTTGGCCAGC	0.617000													33	55					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56385021	56385021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56385021G>A	ENST00000355701.3	-	24	5804	c.4934C>T	c.(4933-4935)cCt>cTt	p.P1645L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1645L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1585L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1645	SH3 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCAGCATCAGGATTGGGCGA	0.547000													9	43					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117053534	117053534	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:117053534G>A	ENST00000371876.1	-	3	2788	c.367C>T	c.(367-369)Cta>Tta	p.L123L	KLHL13_ENST00000541812.1_Silent_p.L158L|KLHL13_ENST00000371878.1_Silent_p.L123L|KLHL13_ENST00000540167.1_Silent_p.L158L|KLHL13_ENST00000469946.1_Silent_p.L123L|KLHL13_ENST00000539496.1_Silent_p.L177L|KLHL13_ENST00000371882.1_Silent_p.L123L|KLHL13_ENST00000262820.3_Silent_p.L174L|KLHL13_ENST00000545703.1_Silent_p.L132L			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	174	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAATCTGTAGGAAACTGGCA	0.388000													54	2					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814812	13814812	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13814812C>T	ENST00000265104.4	-	43	7236	c.7132G>A	c.(7132-7134)Gag>Aag	p.E2378K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2378	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATGAGGCTCGAAAATGATC	0.418000									Kartagener syndrome				14	26					0	0	1	0	0
GMEB1	10691	broad.mit.edu	37	1	29023460	29023460	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:29023460G>A	ENST00000373816.1	+	6	600	c.462G>A	c.(460-462)caG>caA	p.Q154Q	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000361872.4_Silent_p.Q154Q|GMEB1_ENST00000294409.2_Silent_p.Q164Q	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	164	SAND.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCGGACAGATTGATTTTT	0.458000													10	45					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065945	9065945	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9065945C>T	ENST00000397910.4	-	3	21704	c.21501G>A	c.(21499-21501)aaG>aaA	p.K7167K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7169	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.K7167N(2)|p.K2800N(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGGTGTCCTTGCCAGTGG	0.507000													41	55					0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314140	54314140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54314140C>T	ENST00000324134.6	-	3	941	c.773G>A	c.(772-774)aGt>aAt	p.S258N	NLRP12_ENST00000391773.1_Missense_Mutation_p.S258N|NLRP12_ENST00000391775.3_Missense_Mutation_p.S258N|NLRP12_ENST00000351894.4_Missense_Mutation_p.S258N|NLRP12_ENST00000345770.5_Missense_Mutation_p.S258N|NLRP12_ENST00000354278.3_Missense_Mutation_p.S258N|NLRP12_ENST00000391772.1_Missense_Mutation_p.S258N|NLRP12_ENST00000535162.1_Missense_Mutation_p.S258N	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	258	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCGTGGCACTCTGGTTCAT	0.567000													15	25					0	0	1	0	0
FSHR	2492	broad.mit.edu	37	2	49381436	49381436	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:49381436G>A	ENST00000406846.2	-	1	240	c.121C>T	c.(121-123)Cct>Tct	p.P41S	FSHR_ENST00000346173.3_Missense_Mutation_p.P41S|FSHR_ENST00000304421.4_Missense_Mutation_p.P41S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	41	LRRNT.				female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	AGGTCAGAAGGAATCTCTGTC	0.478000									Gonadal Dysgenesis, 46 XX				38	13					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391522	71391522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:71391522C>T	ENST00000392650.3	-	25	3364	c.3364G>A	c.(3364-3366)Gag>Aag	p.E1122K	SDK2_ENST00000388726.3_Missense_Mutation_p.E1122K	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1122	Fibronectin type-III 6.				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						TATTCCATCTCCGGGAGAGGC	0.637000													7	50					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119288073	119288073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:119288073G>A	ENST00000338891.7	-	15	3403	c.2960C>T	c.(2959-2961)cCa>cTa	p.P987L	FAM184A_ENST00000368475.4_Missense_Mutation_p.P818L|FAM184A_ENST00000352896.5_Missense_Mutation_p.P818L|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.P938L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	987										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TATATCTTCTGGTTTTGATTC	0.299000													8	11					0	0	1	0	0
ZFY	7544	broad.mit.edu	37	Y	2847345	2847345	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:2847345C>T	ENST00000155093.3	+	8	2038	c.1717C>T	c.(1717-1719)Caa>Taa	p.Q573*	ZFY_ENST00000449237.1_Nonsense_Mutation_p.Q496*|ZFY-AS1_ENST00000417305.1_RNA|ZFY_ENST00000478783.1_3'UTR|ZFY_ENST00000431102.1_Nonsense_Mutation_p.Q382*|ZFY_ENST00000383052.1_Nonsense_Mutation_p.Q573*	NM_003411.3	NP_003402.2	P08048	ZFY_HUMAN	zinc finger protein, Y-linked	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|kidney(3)|large_intestine(1)|lung(3)	8						GAAGCCATACCAATGCCAGTA	0.423000													16	2					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36069761	36069761	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:36069761C>T	ENST00000303965.4	-	33	5372	c.4883G>A	c.(4882-4884)cGa>cAa	p.R1628Q		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1628					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CCGATGTTTTCGGGGTCGATT	0.507000													25	46					0	0	1	0	0
SLC34A1	6569	broad.mit.edu	37	5	176823738	176823738	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:176823738C>T	ENST00000324417.5	+	11	1270	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	393					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCAGACTTCCCTGCCCCCT	0.647000													13	41					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57884323	57884323	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57884323G>A	ENST00000262027.5	+	7	800	c.666G>A	c.(664-666)gaG>gaA	p.E222E	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	222					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTTTATAGGAGGAGGAGCTGG	0.532000													23	107					0	0	1	0	0
ZIM2	23619	broad.mit.edu	37	19	57286085	57286085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57286085C>T	ENST00000391708.3	-	12	2097	c.1555G>A	c.(1555-1557)Gag>Aag	p.E519K	ZIM2_ENST00000601070.1_Missense_Mutation_p.E519K|ZIM2_ENST00000599935.1_Missense_Mutation_p.E519K|ZIM2_ENST00000221722.5_Missense_Mutation_p.E519K|ZIM2_ENST00000593711.1_Missense_Mutation_p.E519K|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1			zinc finger, imprinted 2											NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		ACAGTTTTCTCTTGAGAATGG	0.443000													18	43					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16746992	16746992	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:16746992G>A	ENST00000381323.3	-	4	334	c.114C>T	c.(112-114)atC>atT	p.I38I	FAM49A_ENST00000355549.2_Silent_p.I38I|FAM49A_ENST00000406434.1_Silent_p.I38I	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	38						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			GGACGGCGCTGATCTGGTTCC	0.507000													4	115					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186544688	186544688	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:186544688G>A	ENST00000431808.1	-	14	2446	c.1883C>T	c.(1882-1884)tCc>tTc	p.S628F	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.S728F|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.S628F|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.S532F			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	628						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GGATGTGAAGGAAAAGTGATC	0.547000													17	33					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58574710	58574710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58574710G>A	ENST00000348616.4	+	14	2389	c.2089G>A	c.(2089-2091)Gga>Aga	p.G697R	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244049.3_Missense_Mutation_p.G30R|CDH26_ENST00000244047.5_Missense_Mutation_p.G697R|CDH26_ENST00000350849.6_Missense_Mutation_p.G30R	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ACCCACGCAGGGAGTTAAGGT	0.517000													13	76					0	0	1	0	0
IGKV1-16	28938	broad.mit.edu	37	2	89399650	89399650	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:89399650G>A	ENST00000479981.1	-	0	82																											TCTGGCACCTGAGATTGGAAA	0.458000													25	81					0	0	1	0	0
ING1	3621	broad.mit.edu	37	13	111368024	111368024	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:111368024C>T	ENST00000375774.3	+	1	696	c.234C>T	c.(232-234)tcC>tcT	p.S78S	ING1_ENST00000333219.7_Intron|ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	78					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CGTGCTCTTCCGCCCTGCGGT	0.677000													9	12					0	0	1	0	0
SALL1	6299	broad.mit.edu	37	16	51174665	51174665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:51174665C>T	ENST00000440970.1	-	2	1608	c.1177G>A	c.(1177-1179)Ggg>Agg	p.G393R	SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G490R|SALL1_ENST00000566102.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	490					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTCAGATTCCCCTTGGTGGAG	0.517000													22	29					0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74507177	74507177	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:74507177G>A	ENST00000354431.4	-	7	1629	c.1438C>T	c.(1438-1440)Cag>Tag	p.Q480*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.Q480*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	480										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						AAACTGTTCTGAATTGTCTCT	0.328000													51	176					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52963710	52963710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:52963710C>T	ENST00000549343.1	-	6	1105	c.1067G>A	c.(1066-1068)aGc>aAc	p.S356N	KRT74_ENST00000305620.2_Missense_Mutation_p.S356N			Q7RTS7	K2C74_HUMAN	keratin 74	356	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CACCATCTCGCTCCTGGTGTG	0.577000													24	4					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193158366	193158366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193158366C>T	ENST00000342695.4	-	21	2822	c.2500G>A	c.(2500-2502)Gaa>Aaa	p.E834K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E815K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	834					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGAAATTCTTCCACCAGACTG	0.458000													28	49					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11774974	11774974	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11774974G>A	ENST00000262442.3	+	52	10181	c.10113G>A	c.(10111-10113)caG>caA	p.Q3371Q	DNAH9_ENST00000454412.2_Silent_p.Q3371Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3371					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACTTCAAACAGCAGGAAAGGA	0.478000													89	45					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219296840	219296840	+	Silent	SNP	C	C	T	rs145595044	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219296840C>T	ENST00000248444.5	+	12	1363	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D	VIL1_ENST00000392114.2_Silent_p.D114D	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	425	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGGGGGCGACTGCTACCTGC	0.592000													23	14					0	0	1	0	0
FAM181A	90050	broad.mit.edu	37	14	94391689	94391689	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94391689G>A	ENST00000267594.5	+	2	379	c.72G>A	c.(70-72)ggG>ggA	p.G24G	FAM181A-AS1_ENST00000554742.1_RNA|FAM181A_ENST00000557719.1_Intron	NM_001207073.1|NM_001207074.1|NM_138344.4	NP_001194002.1|NP_001194003.1|NP_612353.3	Q8N9Y4	F181A_HUMAN	family with sequence similarity 181, member A	24										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						GAAGGCCTGGGGAGAAAAGGG	0.522000													15	31					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61513160	61513160	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61513160C>T	ENST00000266070.4	-	16	4473	c.4148G>A	c.(4147-4149)aGg>aAg	p.R1383K	DIDO1_ENST00000395343.1_Missense_Mutation_p.R1383K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1383					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GTCGTATGGCCTGTCGTCCTC	0.607000													37	151					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82595107	82595107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82595107C>T	ENST00000423517.2	-	4	4334	c.3997G>A	c.(3997-3999)Gaa>Aaa	p.E1333K	PCLO_ENST00000333891.8_Missense_Mutation_p.E1333K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCCCAGGTTCCACCTGATCA	0.363000													61	46					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	384699	384699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:384699G>A	ENST00000256509.2	+	8	1354	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	CHL1_ENST00000397491.2_Intron	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	226	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTCATCCACAGAAATTGGTTC	0.338000													15	40					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76924925	76924925	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:76924925C>T	ENST00000409709.3	+	48	6731	c.6459C>T	c.(6457-6459)ccC>ccT	p.P2153P	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.P2113P|MYO7A_ENST00000409619.2_Silent_p.P2104P	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2153	FERM 2.				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	actin binding|ATP 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						CCACTCATCCCTTCACCAAGA	0.592000													27	72					0	0	1	0	0
PURG	29942	broad.mit.edu	37	8	30889494	30889494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30889494C>T	ENST00000475541.1	-	1	1737	c.805G>A	c.(805-807)Gtg>Atg	p.V269M	PURG_ENST00000339382.2_Missense_Mutation_p.V269M	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	269						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TTATTGTCCACTCTGAAAGAA	0.438000													22	45					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6040131	6040131	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6040131G>A	ENST00000303657.5	-	5	531	c.382C>T	c.(382-384)Ccc>Tcc	p.P128S	RFX2_ENST00000592546.1_Missense_Mutation_p.P128S|RFX2_ENST00000359161.3_Missense_Mutation_p.P128S	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CTGTGGGAGGGGACCGCTGGC	0.687000													22	31					0	0	1	0	0
PITPNM2	57605	broad.mit.edu	37	12	123482006	123482006	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:123482006C>T	ENST00000280562.5	-	10	1543	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K	PITPNM2_ENST00000542749.1_Silent_p.K446K|PITPNM2_ENST00000392428.1_Silent_p.K167K|PITPNM2_ENST00000320201.4_Silent_p.K446K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	446					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TAGCATCGCCCTTCTTGGAGC	0.682000													41	115					0	0	1	0	0
SIGLEC14	100049587	broad.mit.edu	37	19	52147228	52147228	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52147228G>A	ENST00000360844.6	-	5	857	c.816C>T	c.(814-816)ctC>ctT	p.L272L	SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	272	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		CTGTGCAGGCGAGGAACAGGG	0.617000													25	33					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227924863	227924863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:227924863G>A	ENST00000396625.3	-	27	2360	c.2153C>T	c.(2152-2154)cCa>cTa	p.P718L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P718L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	718	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGTGGACCTGGTATTTCCGC	0.443000													20	24					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56138694	56138694	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:56138694G>A	ENST00000373965.2	-	4	560	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	PCDH15_ENST00000320301.6_Silent_p.L56L|PCDH15_ENST00000361849.3_Silent_p.L56L|PCDH15_ENST00000373955.1_Silent_p.L56L|PCDH15_ENST00000414778.1_Silent_p.L61L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Silent_p.L56L|PCDH15_ENST00000395446.1_Silent_p.L56L|PCDH15_ENST00000437009.1_Silent_p.L56L|PCDH15_ENST00000373957.3_Silent_p.L34L|PCDH15_ENST00000395430.1_Silent_p.L56L|PCDH15_ENST00000395432.2_Silent_p.L56L|PCDH15_ENST00000395442.1_Silent_p.L56L|PCDH15_ENST00000395438.1_Silent_p.L56L|PCDH15_ENST00000395433.1_Silent_p.L34L|PCDH15_ENST00000395440.1_Silent_p.L56L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	56	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTCCACCAGAATTGTACCT	0.423000										HNSCC(58;0.16)			43	111					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279403	1279403	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1279403G>A	ENST00000447027.1	+	42	16592	c.16534G>A	c.(16534-16536)Gag>Aag	p.E5512K	MUC5B_ENST00000529681.1_Missense_Mutation_p.E5509K			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5509					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCAGGAGGAGGGCGACTG	0.697000													4	12					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453706	84453706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:84453706C>T	ENST00000377084.2	-	1	2822	c.1937G>A	c.(1936-1938)cGa>cAa	p.R646Q		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	646						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGACCGCTTTCGGTTCCTCAG	0.562000													6	36					0	0	1	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58601541	58601541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58601541C>T	ENST00000240727.6	-	2	493	c.94G>A	c.(94-96)Gaa>Aaa	p.E32K	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E32K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E88K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	32					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TCGGGTTCTTCCTGCTGGACT	0.652000													20	60					0	0	1	0	0
NET1	10276	broad.mit.edu	37	10	5494464	5494464	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:5494464C>A	ENST00000355029.4	+	5	649	c.507C>A	c.(505-507)acC>acA	p.T169T	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Silent_p.T115T	NM_001047160.1	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	169					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AGTCTCTCACCACCAGGGAGA	0.488000													24	28					1.04121e-07	1.04619e-07	1	1	0
FOXM1	2305	broad.mit.edu	37	12	2983234	2983234	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2983234G>A	ENST00000342628.2	-	2	524	c.411C>T	c.(409-411)acC>acT	p.T137T	FOXM1_ENST00000359843.3_Silent_p.T137T|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Silent_p.T137T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	137					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AGGTCTCCAGGGTCACTTCTG	0.547000													55	90					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266247	3266247	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3266247C>T	ENST00000576468.1	+	0	418																											ATTTCTTTGCCTCCTGGCTTC	0.532000													3	18					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90755409	90755409	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:90755409G>A	ENST00000354366.3	-	11	2542	c.2310C>T	c.(2308-2310)ctC>ctT	p.L770L	NRDE2_ENST00000357904.3_Silent_p.L539L	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GCTCCTTAAGGAGATTCTTGG	0.433000													121	247					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1686346	1686346	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:1686346G>A	ENST00000305513.7	-	10	2411	c.2244C>T	c.(2242-2244)gcC>gcT	p.A748A		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	748							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						AAAAGATCTGGGCCAATTTGA	0.502000													31	39					0	0	1	0	0
ADAD2	161931	broad.mit.edu	37	16	84228901	84228901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:84228901G>A	ENST00000268624.3	+	6	1072	c.979G>A	c.(979-981)Gag>Aag	p.E327K	RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000315906.5_Splice_Site|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	245	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						CTCCTGCACAGAGATCCCGCG	0.697000													6	5					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88965891	88965891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:88965891C>T	ENST00000333190.4	+	4	4204	c.3595C>T	c.(3595-3597)Cca>Tca	p.P1199S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1199						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACAGACAGTTCCAGTTCACCA	0.507000										HNSCC(36;0.09)			89	50					0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29855947	29855947	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:29855947G>A	ENST00000431530.3	+	4	2839	c.2781G>A	c.(2779-2781)gtG>gtA	p.V927V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	917	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCTCCAGTGTGACAGCACCCC	0.582000													18	30					0	0	1	0	0
SULT1E1	6783	broad.mit.edu	37	4	70715264	70715264	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:70715264C>T	ENST00000226444.3	-	5	499	c.387G>A	c.(385-387)cgG>cgA	p.R129R		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	129					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CCTTTGCATTCCGGCAAAGAT	0.333000													31	23					0	0	1	0	0
SCFD1	23256	broad.mit.edu	37	14	31169402	31169402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:31169402C>T	ENST00000458591.2	+	16	1575	c.1348C>T	c.(1348-1350)Cca>Tca	p.P450S	SCFD1_ENST00000554486.1_3'UTR|SCFD1_ENST00000544052.2_Missense_Mutation_p.P383S|SCFD1_ENST00000541123.1_Missense_Mutation_p.P265S|SCFD1_ENST00000396629.2_Missense_Mutation_p.P358S|SCFD1_ENST00000421551.3_Missense_Mutation_p.P391S	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	450					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AGCAGGAACTCCAGAAGATAA	0.343000													23	80					0	0	1	0	0
NEK10	152110	broad.mit.edu	37	3	27215978	27215978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:27215978C>T	ENST00000429845.2	-	29	3090	c.2728G>A	c.(2728-2730)Gat>Aat	p.D910N	NEK10_ENST00000357467.2_Missense_Mutation_p.D307N|NEK10_ENST00000295720.6_Missense_Mutation_p.D222N|NEK10_ENST00000383770.3_Missense_Mutation_p.D222N|NEK10_ENST00000383771.4_Missense_Mutation_p.D222N|NEK10_ENST00000498182.1_5'UTR			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	910							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTGGAGTTATCCGAAATGTCC	0.383000													28	56					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35814619	35814619	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35814619G>A	ENST00000356031.3	+	37	5587	c.5433G>A	c.(5431-5433)gaG>gaA	p.E1811E	SPEF2_ENST00000303129.4_Silent_p.E608E|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1811					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTGATGGAGAGAGATCACCTT	0.313000													5	36					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746727	37746727	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:37746727C>T	ENST00000539465.1	+	16	5291	c.4698C>T	c.(4696-4698)ttC>ttT	p.F1566F	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.F1566F			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1566						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CCGCCGTGTTCTGTTTGACCC	0.602000													27	95					0	0	1	0	0
TTLL11	158135	broad.mit.edu	37	9	124751570	124751570	+	Silent	SNP	G	G	A	rs149659494	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:124751570G>A	ENST00000321582.5	-	4	1630	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000373776.3_Silent_p.S481S	NM_001139442.1	NP_001132914.1	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	481	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						TAATCACCACGGAGATGATGT	0.532000													15	22					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87173569	87173569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87173569G>A	ENST00000265724.3	-	18	2504	c.2087C>T	c.(2086-2088)tCc>tTc	p.S696F	ABCB1_ENST00000543898.1_Missense_Mutation_p.S632F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	696					G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CCTCCAAAAGGAAACTGGAGG	0.328000													34	48					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163256735	163256735	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163256735C>T	ENST00000332142.5	-	10	2470	c.2371G>A	c.(2371-2373)Gaa>Aaa	p.E791K		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	791					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TTGAGAATTTCAATGGAGCCT	0.428000													18	41					0	0	1	0	0
CHTF18	63922	broad.mit.edu	37	16	847969	847969	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:847969G>C	ENST00000317063.6	+	24	3549	c.3549G>C	c.(3547-3549)ttG>ttC	p.L1183F	CHTF18_ENST00000455171.2_Missense_Mutation_p.L1002F|CHTF18_ENST00000262315.9_Missense_Mutation_p.L974F			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	974					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCAGGGACTTGCTCTAGTTCT	0.592000													10	21					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882884	228882884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228882884C>T	ENST00000392056.3	-	7	2732	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E896K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	896						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGAACTTCGTTGATGCGA	0.502000													34	62					0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52817048	52817048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52817048C>T	ENST00000273283.2	+	9	1030	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	ITIH1_ENST00000540715.1_Nonsense_Mutation_p.R194*|ITIH1_ENST00000542827.1_Nonsense_Mutation_p.R336*|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.R48*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	336	VWFA.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTTGGGACTCGAGTACAATC	0.532000													58	31					0	0	1	0	0
KCNIP1	30820	broad.mit.edu	37	5	170147385	170147385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:170147385C>T	ENST00000328939.4	+	3	784	c.247C>T	c.(247-249)Cct>Tct	p.P83S	KCNIP1_ENST00000434108.1_Missense_Mutation_p.P83S|KCNIP1_ENST00000411494.1_Missense_Mutation_p.P94S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.P55S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.P92S|KCNIP1_ENST00000390656.4_Missense_Mutation_p.P83S	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	94	EF-hand 1; degenerate.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCAGTTTTTCCCTCATGGAGG	0.532000													5	33					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133543111	133543111	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:133543111C>T	ENST00000409261.1	-	14	1646	c.1273G>A	c.(1273-1275)Ggt>Agt	p.G425S	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G425S|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	425							protein binding	p.G425S(1)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCTTTATAACCCCATTTGGTT	0.438000													51	24					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9072286	9072286	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9072286G>A	ENST00000397910.4	-	3	15363	c.15160C>T	c.(15160-15162)Ctg>Ttg	p.L5054L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5056	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGAAATCAGGGAAGGTGTG	0.473000													27	47					0	0	1	0	0
RTN1	6252	broad.mit.edu	37	14	60193865	60193865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:60193865G>A	ENST00000267484.5	-	3	1872	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	513					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AGGCCCCGCCGGCTTGGCGCA	0.726000													4	14					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68421820	68421820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:68421820G>A	ENST00000297770.4	-	5	681	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	CPA6_ENST00000518549.1_Missense_Mutation_p.H156Y|CPA6_ENST00000297769.4_Missense_Mutation_p.H8Y	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	156					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AGGCCTGAGTGAGTTTTATTC	0.303000													36	25					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143927901	143927901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:143927901G>A	ENST00000220940.1	+	4	362	c.272G>A	c.(271-273)gGa>gAa	p.G91E		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	91	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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)					GAAGCCCCAGGAAAAATCTTC	0.388000													6	33					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27950504	27950504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:27950504G>A	ENST00000379992.2	-	6	615	c.166C>T	c.(166-168)Ccc>Tcc	p.P56S	LINGO2_ENST00000308675.3_Missense_Mutation_p.P56S	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	56	LRRNT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GTTTCGATGGGAATGCCCTCT	0.493000													24	34					0	0	1	0	0
MEP1B	4225	broad.mit.edu	37	18	29784308	29784308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:29784308G>A	ENST00000269202.6	+	7	579	c.532G>A	c.(532-534)Gac>Aac	p.D178N	MEP1B_ENST00000581447.1_Missense_Mutation_p.D178N	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	178	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GATAATGTGGGACAGAATTCT	0.443000													4	5					0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45015214	45015214	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45015214C>T	ENST00000454753.1	-	0	1891							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GCAGCTTCGTCTGCAAGTAAG	0.532000													81	232					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064409	9064409	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9064409G>A	ENST00000397910.4	-	3	23240	c.23037C>T	c.(23035-23037)ccC>ccT	p.P7679P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7681	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTTCACAAAGGGAGGGCTAG	0.547000													20	27					0	0	1	0	0
SLAMF1	6504	broad.mit.edu	37	1	160607113	160607113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:160607113G>A	ENST00000302035.6	-	2	632	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	SLAMF1_ENST00000494463.1_5'UTR|SLAMF1_ENST00000355199.3_Missense_Mutation_p.R95C|SLAMF1_ENST00000538290.1_Missense_Mutation_p.R95C|SLAMF1_ENST00000235739.5_Missense_Mutation_p.R95C	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	95					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AACTTGTAGCGATCTCCTAGA	0.468000													58	61					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100919812	100919812	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:100919812T>C	ENST00000343933.5	-	2	388	c.131A>G	c.(130-132)aAc>aGc	p.N44S	CORO2A_ENST00000375077.4_Missense_Mutation_p.N44S	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	44					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAAGTGGGGGTTCACGGCACA	0.577000													31	2					0	0	1	0	0
EIF3F	8665	broad.mit.edu	37	11	8008883	8008883	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:8008883C>T	ENST00000537635.1	+	1	447	c.29C>T	c.(28-30)tCc>tTc	p.S10F	EIF3F_ENST00000309828.4_5'UTR|EIF3F_ENST00000533626.1_5'UTR			O00303	EIF3F_HUMAN	eukaryotic translation initiation factor 3, subunit F	0						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCTTCCGCCTCCTTCTTTCTC	0.562000											OREG0020726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	91					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42804074	42804074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42804074C>T	ENST00000398600.2	+	7	1102	c.77C>T	c.(76-78)gCt>gTt	p.A26V	MX1_ENST00000288383.6_Missense_Mutation_p.A26V|MX1_ENST00000455164.2_Missense_Mutation_p.A26V|MX1_ENST00000398598.3_Missense_Mutation_p.A26V	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	26					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				AATGGAGATGCTACTGTGGCC	0.488000													11	65					0	0	1	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213014	26213014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:26213014G>A	ENST00000379034.1	+	2	1200	c.1051G>A	c.(1051-1053)Gat>Aat	p.D351N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	351	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTGCAACAGTGATCCTCCATG	0.502000													18	35					0	0	1	0	0
FAM21C	253725	broad.mit.edu	37	10	46281030	46281030	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:46281030C>T	ENST00000336378.4	+	26	2874	c.2756C>T	c.(2755-2757)tCc>tTc	p.S919F	FAM21C_ENST00000374362.2_Missense_Mutation_p.S921F|FAM21C_ENST00000537517.1_Missense_Mutation_p.S846F|FAM21C_ENST00000359860.4_Missense_Mutation_p.S863F|FAM21C_ENST00000540872.1_Intron	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	921										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						CATCCTGAATCCATTCAAGGT	0.363000													23	54					0	0	1	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805613	20805613	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:20805613G>A	ENST00000577537.1	+	0	797				RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							GCCCATTACTGGAGCAGCAGC	0.562000													27	73					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8021971	8021971	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8021971G>A	ENST00000296372.8	-	12	1370	c.1228C>T	c.(1228-1230)Ccc>Tcc	p.P410S	ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P410S|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P410S|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P443S|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P410S|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000361737.5_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	410					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						TAGGTGGAGGGGGGCGGCTTG	0.627000													10	9					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516219	138516219	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138516219C>T	ENST00000371763.1	-	5	808	c.555G>A	c.(553-555)gaG>gaA	p.E185E		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	185					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		GGCCCAGGGTCTCCACCCCGA	0.582000													19	19					0	0	1	0	0
ACER1	125981	broad.mit.edu	37	19	6312166	6312166	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6312166C>T	ENST00000301452.4	-	3	421	c.344G>A	c.(343-345)gGg>gAg	p.G115E		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	115						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CCACCTGTTCCCCCCAAGGAA	0.612000													11	27					0	0	1	0	0
DGAT2L6	347516	broad.mit.edu	37	X	69419702	69419702	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:69419702G>A	ENST00000333026.3	+	3	337	c.237G>A	c.(235-237)tgG>tgA	p.W79*		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	79					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GGACCCTATGGAAGTATTTCC	0.552000													10	7					0	0	1	0	0
MMACHC	25974	broad.mit.edu	37	1	45973088	45973088	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:45973088C>T	ENST00000401061.4	+	2	422	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	48							cobalamin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGACCTACCCTGGCCTTCCT	0.597000													19	5					0	0	1	0	0
KRT39	390792	broad.mit.edu	37	17	39114963	39114963	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39114963G>A	ENST00000355612.2	-	7	1401	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	456	Tail.		R -> Q (in dbSNP:rs7213256).			intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ACCAGTATCCGGGACAGGGGT	0.517000													65	51					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103836	53103836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53103836G>A	ENST00000408890.4	+	1	488	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	158										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGACAGAGAgcccgccccgc	0.726000													7	44					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113556606	113556606	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:113556606G>A	ENST00000375608.3	+	2	148	c.90G>A	c.(88-90)gaG>gaA	p.E30E	MCF2L_ENST00000397036.1_Silent_p.E30E|MCF2L_ENST00000442652.2_Silent_p.E30E			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	30					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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCAAAAAGGAGGAAACGGATC	0.537000													5	16					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114402005	114402005	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:114402005G>A	ENST00000359785.5	-	2	300	c.165C>T	c.(163-165)atC>atT	p.I55I	PTPN22_ENST00000528414.1_Silent_p.I55I|PTPN22_ENST00000525799.1_Silent_p.I55I|PTPN22_ENST00000534519.1_5'UTR|PTPN22_ENST00000420377.2_Silent_p.I55I|PTPN22_ENST00000460620.1_Silent_p.I55I|PTPN22_ENST00000538253.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	55	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTTTTTCTTGATATTCTTGG	0.358000													69	12					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994390	53994390	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53994390G>A	ENST00000396403.4	+	4	1032	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TTACAAATGTGAAGAATGTGA	0.388000													13	52					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52741452	52741452	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52741452C>T	ENST00000306051.2	+	2	952	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	PTGDR_ENST00000553372.1_3'UTR	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	284						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	AAAACAGTATCGCGCTTACTA	0.398000													4	16					0	0	1	0	0
CCDC50	152137	broad.mit.edu	37	3	191092902	191092902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:191092902C>T	ENST00000392456.3	+	6	1090	c.500C>T	c.(499-501)cCt>cTt	p.P167L	CCDC50_ENST00000392455.3_Intron	NM_178335.2	NP_848018.1	Q8IVM0	CCD50_HUMAN	coiled-coil domain containing 50	163						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		TTCTCAAGACCTTGTAGACTC	0.443000													10	39					0	0	1	0	0
UBC	7316	broad.mit.edu	37	12	125397827	125397827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:125397827G>A	ENST00000536769.1	-	1	2067	c.491C>T	c.(490-492)aCc>aTc	p.T164I	UBC_ENST00000339647.5_Missense_Mutation_p.T164I|UBC_ENST00000546120.1_Intron|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	164	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GAGGGTGATGGTCTTACCAGT	0.512000													30	199					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38160304	38160304	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:38160304C>T	ENST00000379747.4	-	7	984	c.867G>A	c.(865-867)agG>agA	p.R289R	POSTN_ENST00000379743.4_Silent_p.R289R|POSTN_ENST00000541481.1_Silent_p.R289R|POSTN_ENST00000379749.4_Silent_p.R289R|POSTN_ENST00000541179.1_Silent_p.R289R|POSTN_ENST00000379742.4_Silent_p.R289R	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	289	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		CTCCCATGATCCTTTCTAGGA	0.468000													24	46					0	0	1	0	0
MC3R	4159	broad.mit.edu	37	20	54824049	54824049	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:54824049C>T	ENST00000243911.2	+	1	262	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	87					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTCTGGGCATCGTCAGTCTGC	0.587000													94	49					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68552354	68552354	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68552354C>T	ENST00000265641.5	-	10	1246	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	CPT1A_ENST00000540367.1_Silent_p.Q364Q|CPT1A_ENST00000539743.1_Silent_p.Q364Q|CPT1A_ENST00000376618.2_Silent_p.Q364Q	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	364					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CCAGGATCCTCTGCATCTGCT	0.622000													14	36					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9087347	9087347	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9087347G>A	ENST00000397910.4	-	1	4671	c.4468C>T	c.(4468-4470)Cca>Tca	p.P1490S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1490	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GACATAGGTGGAAAAATAGCA	0.423000													65	113					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73572526	73572526	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:73572526G>A	ENST00000224721.6	+	67	9532	c.9525_splice	c.e67-1	p.G3176_splice	CDH23_ENST00000398788.3_Splice_Site_p.G931_splice|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3171					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTCCCCAGGGAACTTTTGGG	0.582000													5	11					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154429576	154429576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:154429576C>T	ENST00000404039.1	+	6	1068	c.481C>T	c.(481-483)Cct>Tct	p.P161S	DPP6_ENST00000377770.3_Missense_Mutation_p.P225S|DPP6_ENST00000332007.3_Missense_Mutation_p.P163S|DPP6_ENST00000427557.1_Intron	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	225					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GAGCAAAATTCCTCATGGGTA	0.403000													3	6					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72969126	72969126	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:72969126G>A	ENST00000261180.4	+	11	2184	c.2088G>A	c.(2086-2088)agG>agA	p.R696R	TRHDE_ENST00000549138.1_3'UTR	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	696					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ATGACCTAAGGAACTGGAGAT	0.363000													34	29					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12422909	12422909	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:12422909C>T	ENST00000397026.2	+	5	716	c.333C>T	c.(331-333)tcC>tcT	p.S111S	PPARG_ENST00000397012.2_Silent_p.S105S|PPARG_ENST00000287820.6_Silent_p.S133S|PPARG_ENST00000397010.2_Silent_p.S105S|PPARG_ENST00000539812.1_Silent_p.S103S|PPARG_ENST00000397015.2_Silent_p.S105S|PPARG_ENST00000397000.1_Silent_p.S105S|PPARG_ENST00000309576.6_Silent_p.S105S			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	133					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CTTCCAACTCCCTCATGGCAA	0.423000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						90	287					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62986583	62986583	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:62986583C>T	ENST00000561311.1	+	13	1514	c.1284C>T	c.(1282-1284)tcC>tcT	p.S428S	TLN2_ENST00000306829.6_Silent_p.S428S			Q9Y4G6	TLN2_HUMAN	talin 2	428					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGTCCGTTTCCCCAAAAAAGT	0.423000													17	39					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45781181	45781181	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45781181G>A	ENST00000261867.4	-	5	1066	c.752C>T	c.(751-753)tCa>tTa	p.S251L	RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	251					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGGGGAATTTGAAGGCAGGGA	0.448000													20	43					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34038290	34038290	+	Splice_Site	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:34038290A>T	ENST00000373381.4	-	50	7754	c.7576_splice	c.e50-1	p.A2526_splice		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2528	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACAGGAAAGAGCTAGCAAAA	0.453000													25	4					0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2290687	2290687	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2290687G>A	ENST00000585527.1	-	1	1336	c.1089C>T	c.(1087-1089)atC>atT	p.I363I	LINGO3_ENST00000404279.1_Silent_p.I363I			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	363	LRRCT.					integral to membrane				lung(1)|urinary_tract(1)	2						GACGCTGCACGATCCACAGCA	0.697000													3	12					0	0	1	0	0
SOX3	6658	broad.mit.edu	37	X	139585906	139585906	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:139585906C>T	ENST00000370536.2	-	1	1319	c.1320G>A	c.(1318-1320)acG>acA	p.T440T		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	440					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					TCAGCGGCACCGTTCCGTTGA	0.741000													5	8					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120510782	120510782	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:120510782G>A	ENST00000256646.2	-	7	1401	c.1182C>T	c.(1180-1182)ccC>ccT	p.P394P		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	394	EGF-like 10.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P394P(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCATTTAGGGGGTTGGTGT	0.517000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013734	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	92	506					0	0	1	0	0
CHRNE	1145	broad.mit.edu	37	17	4804298	4804298	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4804298G>A	ENST00000293780.4	-	7	799	c.789C>T	c.(787-789)ttC>ttT	p.F263F	C17orf107_ENST00000381365.3_3'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	263					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.F263F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GCGCCGGCAGGAAGTAGGCGA	0.657000													22	59					0	0	1	0	0
ARPC4	10093	broad.mit.edu	37	3	9845661	9845661	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:9845661C>T	ENST00000397261.3	+	5	1029	c.465C>T	c.(463-465)gcC>gcT	p.A155A	ARPC4_ENST00000498623.2_Silent_p.A65A|ARPC4-TTLL3_ENST00000397256.1_Intron|ARPC4_ENST00000287613.7_Silent_p.A65A|ARPC4_ENST00000433034.1_Silent_p.A174A	NM_005718.4	NP_005709.1			actin related protein 2/3 complex, subunit 4, 20kDa											breast(1)|lung(1)	2	Medulloblastoma(99;0.227)					CAGTCAATGCCCGTGCCCGCA	0.488000													40	65					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065732	73065732	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73065732G>A	ENST00000429829.1	-	0	6856					NR_001564.2																						AACAGGCCAAGAAAAGGGGCC	0.512000													28	32					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19378024	19378024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19378024C>T	ENST00000550708.1	+	1	503	c.431C>T	c.(430-432)cCc>cTc	p.P144L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATCTGCCGTCCCTTGCTCTAT	0.448000													48	214					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727811	7727811	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:7727811T>C	ENST00000283147.6	+	1	782	c.623T>C	c.(622-624)tTc>tCc	p.F208S		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	208					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GACAGCGCCTTCCTCAACGAC	0.647000													9	19					0	0	1	0	0
NGDN	25983	broad.mit.edu	37	14	23944952	23944952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23944952C>T	ENST00000397154.3	+	6	398	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	NGDN_ENST00000408901.3_Missense_Mutation_p.R129C			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	129	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TGACCCACTTCGTTTTAAGCC	0.408000													28	82					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31215852	31215852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31215852C>T	ENST00000349752.5	-	2	790	c.151G>A	c.(151-153)Gac>Aac	p.D51N	GALNT14_ENST00000420311.2_Missense_Mutation_p.D16N|GALNT14_ENST00000406653.1_Missense_Mutation_p.D31N|GALNT14_ENST00000356174.3_Missense_Mutation_p.D51N|GALNT14_ENST00000324589.5_Intron	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	51						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TCCCACAGGTCGTCCCAGTCA	0.577000													9	50					0	0	1	0	0
PARK2	5071	broad.mit.edu	37	6	162683585	162683585	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:162683585C>T	ENST00000366898.1	-	3	486	c.384G>A	c.(382-384)agG>agA	p.R128R	PARK2_ENST00000366894.1_Intron|PARK2_ENST00000366892.1_Silent_p.R128R|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366896.1_Intron|PARK2_ENST00000366897.1_Silent_p.R128R	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	128					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GTGAGTCCTTCCTGCTGTCAG	0.532000													13	20					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325217	57325217	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57325217G>A	ENST00000326441.9	-	10	4956	c.4593C>T	c.(4591-4593)atC>atT	p.I1531I	PEG3_ENST00000423103.2_Silent_p.I1531I|PEG3_ENST00000593695.1_Silent_p.I1405I|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.I1407I|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1531					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCAAATATGATCATGCTGG	0.478000													20	80					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170059	107170059	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:107170059C>T	ENST00000390633.2	-	0	283																											TTTGCTGTACCAAAGATAGGG	0.557000													29	145					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50724519	50724519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50724519G>A	ENST00000449103.1	-	10	2026	c.1886C>T	c.(1885-1887)tCc>tTc	p.S629F	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S629F|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	629					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCTCACGCAGGAGATGCACCT	0.667000													20	42					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153909204	153909204	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153909204C>T	ENST00000361217.4	-	16	2671	c.2253G>A	c.(2251-2253)cgG>cgA	p.R751R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	751										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TCTGTGCCATCCGCTGTGCAA	0.517000													7	17					0	0	1	0	0
RBPMS2	348093	broad.mit.edu	37	15	65040711	65040711	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:65040711G>A	ENST00000300069.4	-	6	741	c.474C>T	c.(472-474)taC>taT	p.Y158Y	RBPMS2_ENST00000560606.1_Silent_p.Y47Y	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	158							nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						TGTACAAAGGGTAGGGGGCCC	0.622000													34	96					0	0	1	0	0
GJA9	81025	broad.mit.edu	37	1	39341322	39341322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:39341322C>T	ENST00000454994.2	-	2	725	c.449G>A	c.(448-450)aGa>aAa	p.R150K	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000443161.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.R150K|GJA9_ENST00000357771.3_Missense_Mutation_p.R150K			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	150					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CAAGGTTCCTCTGAGTGGAGC	0.423000													26	23					0	0	1	0	0
ZNF518B	85460	broad.mit.edu	37	4	10446595	10446595	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:10446595G>A	ENST00000326756.3	-	3	1796	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						ATTAATGAAGGATTTTCCATT	0.323000													19	5					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202557634	202557634	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:202557634T>C	ENST00000409474.3	-	3	405	c.198A>G	c.(196-198)ctA>ctG	p.L66L	MPP4_ENST00000409143.1_Silent_p.L66L|MPP4_ENST00000447335.2_Silent_p.L66L|MPP4_ENST00000428900.2_Silent_p.L66L|MPP4_ENST00000396886.3_Silent_p.L66L|MPP4_ENST00000359962.5_Silent_p.L66L|MPP4_ENST00000315506.7_Silent_p.L66L	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	66	L27 1.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CACTCACCTTTAGCAGAGCCT	0.522000													5	5					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41551491	41551491	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:41551491G>A	ENST00000396942.1	-	29	3540	c.3457C>T	c.(3457-3459)Cct>Tct	p.P1153S	ANK1_ENST00000379758.2_Missense_Mutation_p.P1153S|ANK1_ENST00000396945.1_Missense_Mutation_p.P1153S|ANK1_ENST00000265709.8_Missense_Mutation_p.P1194S|ANK1_ENST00000289734.7_Missense_Mutation_p.P1153S|ANK1_ENST00000352337.4_Missense_Mutation_p.P1153S|ANK1_ENST00000347528.4_Missense_Mutation_p.P1153S			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1153					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GTCCAGGAAGGAGGTAGTGGG	0.657000													22	17					0	0	1	0	0
ZC2HC1C	79696	broad.mit.edu	37	14	75537901	75537901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:75537901G>A	ENST00000524913.1	+	2	1114	c.625G>A	c.(625-627)Gag>Aag	p.E209K	ZC2HC1C_ENST00000439583.2_Missense_Mutation_p.E209K|ZC2HC1C_ENST00000238686.8_Missense_Mutation_p.E209K|ZC2HC1C_ENST00000526748.1_Intron	NM_024643.2	NP_078919.2	Q53FD0	F164C_HUMAN	zinc finger, C2HC-type containing 1C	209																	TGACAGGACGGAGTGGGTGCA	0.527000													27	136					0	0	1	0	0
ZMYND15	84225	broad.mit.edu	37	17	4646617	4646617	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4646617C>T	ENST00000433935.1	+	6	1221	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	ZMYND15_ENST00000269289.6_Silent_p.F388F|ZMYND15_ENST00000592813.1_Silent_p.F388F|ZMYND15_ENST00000573751.2_Silent_p.F388F	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	388							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						GTGAAACCTTCAACAAAGAGG	0.557000													116	47					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912231	87912231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87912231G>A	ENST00000380079.4	-	3	810	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C	AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000595121.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.R237C|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|STEAP4_ENST00000301959.5_Intron	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	237					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATAGCCATACGAAATGTATTA	0.363000													12	58					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063005	21063005	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21063005G>A	ENST00000261383.3	-	29	4223	c.4224C>T	c.(4222-4224)acC>acT	p.T1408T	DNAH3_ENST00000415178.1_Silent_p.T1408T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1408	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGCAGCGGTCGGTGAGGGGTG	0.562000													47	36					0	0	1	0	0
BMP7	655	broad.mit.edu	37	20	55777658	55777658	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55777658G>A	ENST00000395863.3	-	3	1138	c.633C>T	c.(631-633)ctC>ctT	p.L211L	BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Silent_p.L211L|BMP7_ENST00000395864.3_Silent_p.L211L	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	211					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TACGGCTGTCGAGCAGGAAGA	0.622000													13	64					0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978307	107978307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:107978307C>T	ENST00000372129.2	-	1	1344	c.1268G>A	c.(1267-1269)aGg>aAg	p.R423K		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	423						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AACCGCTCTCCTTGACCTGCG	0.637000													21	24					0	0	1	0	0
COASY	80347	broad.mit.edu	37	17	40716081	40716081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40716081C>T	ENST00000393818.2	+	2	1259	c.803C>T	c.(802-804)cCc>cTc	p.P268L	COASY_ENST00000590958.1_Missense_Mutation_p.P297L|COASY_ENST00000449624.1_5'UTR|COASY_ENST00000420359.1_Missense_Mutation_p.P268L|COASY_ENST00000421097.2_Missense_Mutation_p.P268L	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	268	Phosphopantetheine adenylyltransferase.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GATGTCATCCCCCTGCTGGAC	0.572000													36	52					0	0	1	0	0
GOT1L1	137362	broad.mit.edu	37	8	37796275	37796275	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:37796275G>A	ENST00000307599.4	-	2	339	c.240C>T	c.(238-240)atC>atT	p.I80I		NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	80					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GAGAGGCCTGGATGAATGATT	0.527000													7	8					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404792	10404792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10404792C>T	ENST00000226207.5	-	27	3467	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1125						muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						GCCTCGATTTCCTCCTCCAGC	0.542000													33	13					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763273	43763273	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43763273G>A	ENST00000418820.2	-	3	543	c.445C>T	c.(445-447)Ccc>Tcc	p.P149S	PSG9_ENST00000270077.3_Missense_Mutation_p.P242S|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Missense_Mutation_p.P149S			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	149	Ig-like C2-type 1.				female pregnancy	extracellular region		p.P242T(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTGATGTAGGGGATGGGCAGC	0.478000													57	203					0	0	1	0	0
RNF31	55072	broad.mit.edu	37	14	24618631	24618631	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24618631C>T	ENST00000324103.6	+	6	968	c.648C>T	c.(646-648)ccC>ccT	p.P216P	RNF31_ENST00000559275.1_Silent_p.P65P|RNF31_ENST00000382687.3_Silent_p.P65P	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	216	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CTCCTGGTCCCTGCTTCCTCT	0.562000													19	85					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731530	6731530	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6731530G>A	ENST00000405858.1	-	5	1584	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.S274L|ZNF12_ENST00000342651.5_Missense_Mutation_p.S310L	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	348					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CTTCTCTCCTGAGTGAGTTCT	0.428000													10	100					0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187201727	187201727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:187201727G>A	ENST00000264692.4	+	10	1305	c.972G>A	c.(970-972)atG>atA	p.M324I	F11_ENST00000403665.2_Missense_Mutation_p.M376I			P03951	FA11_HUMAN	coagulation factor XI	376	Apple 4.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	TGTGTAAAATGGATAATGGTG	0.383000													6	28					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860024	16860024	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16860024G>A	ENST00000524140.2	+	6	989	c.571G>A	c.(571-573)Gag>Aag	p.E191K	NWD1_ENST00000552788.1_Missense_Mutation_p.E191K|NWD1_ENST00000549814.1_Missense_Mutation_p.E191K|NWD1_ENST00000339803.6_Missense_Mutation_p.E56K|NWD1_ENST00000379808.3_Missense_Mutation_p.E191K|NWD1_ENST00000523826.1_5'UTR	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	191							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTCCTTAGAGAGATCCAAGA	0.587000													34	35					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73062560	73062560	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73062560G>A	ENST00000429829.1	-	0	10028					NR_001564.2																						TGGGACCAAGGAAAGTGCAAC	0.468000													11	16					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39604032	39604032	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39604032G>A	ENST00000265708.4	-	19	2236	c.2133C>T	c.(2131-2133)ttC>ttT	p.F711F	ADAM2_ENST00000521880.1_Silent_p.F648F|ADAM2_ENST00000347580.4_Silent_p.F692F|ADAM2_ENST00000379853.2_Silent_p.F555F	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	711					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTTTCCTTTGGAAATTAACTT	0.279000													35	26					0	0	1	0	0
WFDC6	140870	broad.mit.edu	37	20	44163121	44163121	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:44163121C>T	ENST00000600168.1	-	4	506	c.419G>A	c.(418-420)aGg>aAg	p.R140K	WFDC6_ENST00000372670.3_Silent_p.K82K					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				CAAGCTCCTCCTTATGGTATA	0.478000													27	69					0	0	1	0	0
ZNF71	58491	broad.mit.edu	37	19	57133717	57133717	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57133717C>T	ENST00000328070.6	+	3	1296	c.1062C>T	c.(1060-1062)ttC>ttT	p.F354F		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	354						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TGAAGCCGTTCGAGTGCAGCG	0.637000													24	21					0	0	1	0	0
PAQR5	54852	broad.mit.edu	37	15	69672237	69672237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:69672237G>A	ENST00000340965.3	+	4	735	c.67G>A	c.(67-69)Ggc>Agc	p.G23S	PAQR5_ENST00000395407.2_Missense_Mutation_p.G23S|PAQR5_ENST00000561153.1_Missense_Mutation_p.G23S|PAQR5_ENST00000561027.1_3'UTR	NM_001104554.1	NP_001098024.1	Q9NXK6	MPRG_HUMAN	progestin and adipoQ receptor family member V	23					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCATGAGCAAGGCATCCTGTT	0.532000													103	135					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18705938	18705938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:18705938C>T	ENST00000406451.3	+	12	1711	c.1561C>T	c.(1561-1563)Ccc>Tcc	p.P521S	HDAC9_ENST00000417496.2_Missense_Mutation_p.P519S|HDAC9_ENST00000401921.1_Missense_Mutation_p.P480S|HDAC9_ENST00000456174.2_Missense_Mutation_p.P493S|HDAC9_ENST00000406072.1_Missense_Mutation_p.P508S|HDAC9_ENST00000428307.2_Missense_Mutation_p.P477S|HDAC9_ENST00000432645.2_Missense_Mutation_p.P521S|HDAC9_ENST00000405010.3_Missense_Mutation_p.P521S|HDAC9_ENST00000524023.1_Missense_Mutation_p.P444S|HDAC9_ENST00000441542.2_Missense_Mutation_p.P524S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	521					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AGACAGAGCGCCCTCTAGTGG	0.547000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	143					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11976465	11976465	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:11976465C>T	ENST00000339865.5	+	25	4295	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S	USP47_ENST00000527733.1_Missense_Mutation_p.P1246S|USP47_ENST00000399455.2_Missense_Mutation_p.P1266S|USP47_ENST00000305481.6_3'UTR|USP47_ENST00000539466.1_Missense_Mutation_p.P48S	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	1266					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		CAGTGGGATTCCTTTGGATGA	0.313000													20	31					0	0	1	0	0
GPRASP2	114928	broad.mit.edu	37	X	101971512	101971512	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:101971512G>A	ENST00000543253.1	+	5	2634	c.1715G>A	c.(1714-1716)aGg>aAg	p.R572K	GPRASP2_ENST00000332262.5_Missense_Mutation_p.R572K|GPRASP2_ENST00000535209.1_Missense_Mutation_p.R572K	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GAGCATCTTAGGGCCAGGGAG	0.463000													26	41					0	0	1	0	0
HOXA11	3207	broad.mit.edu	37	7	27222489	27222489	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:27222489G>A	ENST00000006015.3	-	2	939	c.868C>T	c.(868-870)Cag>Tag	p.Q290*		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	290					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q290*(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						CTCCTGTTCTGAAACCAGATT	0.463000			T	NUP98	CML								96	49					0	0	1	0	0
TACR3	6870	broad.mit.edu	37	4	104511152	104511152	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:104511152C>T	ENST00000304883.2	-	5	1226		c.e5-1		RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3							integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		AGCTCGAAATCTGAGGAAAAG	0.418000													34	20					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16306643	16306643	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:16306643G>A	ENST00000244769.4	-	9	3301	c.2365C>T	c.(2365-2367)Cca>Tca	p.P789S	ATXN1_ENST00000436367.1_Missense_Mutation_p.P789S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	789	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GTCAAAGGTGGTTCGTCTTCT	0.537000													19	87					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107911653	107911653	+	Missense_Mutation	SNP	C	C	T	rs104886393		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:107911653C>T	ENST00000328300.6	+	41	3953	c.3709C>T	c.(3709-3711)Cca>Tca	p.P1237S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1237S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1237	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCAGGGTCCCCCAGGCCCTCC	0.602000									Alport syndrome with Diffuse Leiomyomatosis				19	4					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14488204	14488204	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:14488204C>T	ENST00000344204.4	+	48	7491	c.7467C>T	c.(7465-7467)atC>atT	p.I2489I	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2489					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGAGCTCCATCCCCGCCTCCC	0.721000													4	23					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518270	45518270	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45518270C>T	ENST00000291574.4	+	21	3376	c.3201C>T	c.(3199-3201)ccC>ccT	p.P1067P		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1067					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						AGATCTTTCCCCCTTCGGGAA	0.488000													65	73					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125900150	125900150	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:125900150G>A	ENST00000299308.3	+	3	1026	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	340						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGTCCAGGAGGAAATTGATAA	0.552000													31	39					0	0	1	0	0
OR4D10	390197	broad.mit.edu	37	11	59245655	59245655	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:59245655C>T	ENST00000530162.1	+	1	810	c.753C>T	c.(751-753)ttC>ttT	p.F251F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F249L(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCTGCATTTCGTGCCCTGCA	0.547000													47	128					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659644	24659644	+	RNA	SNP	T	T	C	rs28539511	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:24659644T>C	ENST00000414583.2	+	0	3169					NR_003714.1																						GCCGGACACGTGGTAGATGCC	0.652000													27	18					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161479651	161479651	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161479651G>A	ENST00000271450.6	+	4	444	c.406G>A	c.(406-408)Gga>Aga	p.G136R	FCGR2A_ENST00000367972.4_Missense_Mutation_p.G135R|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	136	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTCCAGGAGGGAGAAACCAT	0.463000													70	64					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666805	12666805	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12666805G>A	ENST00000425538.1	+	14	3005	c.2805G>A	c.(2803-2805)tgG>tgA	p.W935*	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Nonsense_Mutation_p.W887*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	887					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCTCCCTGGGAAACCATGG	0.547000													12	45					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121759225	121759225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:121759225G>A	ENST00000261367.7	+	6	2362	c.934G>A	c.(934-936)Gat>Aat	p.D312N	SNCAIP_ENST00000261368.8_Missense_Mutation_p.D265N|SNCAIP_ENST00000379533.2_Missense_Mutation_p.D312N|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Missense_Mutation_p.D265N|SNCAIP_ENST00000503116.2_Missense_Mutation_p.D312N|SNCAIP_ENST00000504884.2_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	265					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GACATTTAGTGATCCTCATGG	0.473000													18	17					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016812	1016812	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1016812T>C	ENST00000421673.2	-	31	6039	c.5989A>G	c.(5989-5991)Acc>Gcc	p.T1997A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1997	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGATGGGGTTGGATAGGTA	0.542000													52	2209					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21102879	21102879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:21102879G>A	ENST00000377122.4	-	23	2731	c.2335C>T	c.(2335-2337)Cat>Tat	p.H779Y	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	779					regulation of actin filament length		actin binding|structural constituent of muscle	p.H779Y(1)		NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						ATTGAAATATGATTTTGTGCT	0.388000													16	52					0	0	1	0	0
AP2A1	160	broad.mit.edu	37	19	50309455	50309455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50309455C>T	ENST00000354293.5	+	22	2901	c.2735C>T	c.(2734-2736)aCt>aTt	p.T912I	AP2A1_ENST00000359032.5_Missense_Mutation_p.T934I	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	934					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATCATCCAGACTAAAGCCCTG	0.667000													6	5					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28057075	28057075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28057075G>A	ENST00000377325.1	+	4	1841	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	429					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GAAACCCTACGAGTGTAGTGA	0.448000													8	45					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240256759	240256759	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:240256759C>T	ENST00000319653.9	+	1	1580	c.1350C>T	c.(1348-1350)tcC>tcT	p.S450S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	450					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CGGAACCCTCCCTGAGCCGAG	0.697000													16	132					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014766	75014766	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75014766C>T	ENST00000379727.3	-	2	871	c.673G>A	c.(673-675)Ggg>Agg	p.G225R	CYP1A1_ENST00000395049.4_Missense_Mutation_p.G225R|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000567032.1_Missense_Mutation_p.G225R|CYP1A1_ENST00000395048.2_Missense_Mutation_p.G225R			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	225					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	ACCACCTCCCCGAAATTATTA	0.493000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				14	88					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891277	18891277	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18891277G>A	ENST00000317658.3	+	1	233	c.75G>A	c.(73-75)ggG>ggA	p.G25G		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	25					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCCCTCCAGGGGAATTTGTAA	0.458000													12	64					0	0	1	0	0
NAPRT1	93100	broad.mit.edu	37	8	144658649	144658649	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144658649T>C	ENST00000449291.2	-	7	1269	c.975A>G	c.(973-975)ctA>ctG	p.L325L	RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000435154.3_Silent_p.L325L|NAPRT1_ENST00000276844.7_Silent_p.L325L|NAPRT1_ENST00000426292.3_Silent_p.L325L			Q6XQN6	PNCB_HUMAN	nicotinate phosphoribosyltransferase domain containing 1	325					nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process	cytosol|Golgi apparatus|nucleus	nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	6	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAGCCTGCTGTAGCAGGTCAC	0.652000													9	25					0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81641868	81641868	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:81641868G>A	ENST00000558726.1	-	11	1262	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	TMC3_ENST00000359440.5_Missense_Mutation_p.S375L|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	375						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GTCAAAGGCTGATGGTGCTAT	0.582000													4	15					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9434098	9434098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:9434098G>A	ENST00000378501.2	+	29	2964	c.2949G>A	c.(2947-2949)atG>atA	p.M983I	PLCB4_ENST00000278655.4_Missense_Mutation_p.M983I|PLCB4_ENST00000414679.2_Missense_Mutation_p.M995I|PLCB4_ENST00000378493.1_Missense_Mutation_p.M983I|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.M995I|PLCB4_ENST00000334005.3_Missense_Mutation_p.M983I	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	983					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AGAAGGCAATGAAGAAGAAGG	0.388000													17	20					0	0	1	0	0
EPS15L1	58513	broad.mit.edu	37	19	16536010	16536010	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16536010G>A	ENST00000602009.1	-	3	1109	c.214C>T	c.(214-216)Ctg>Ttg	p.L72L	EPS15L1_ENST00000594975.1_Silent_p.L226L|EPS15L1_ENST00000597937.1_Silent_p.L226L|EPS15L1_ENST00000535753.2_Silent_p.L226L|EPS15L1_ENST00000248070.6_Silent_p.L226L|EPS15L1_ENST00000455140.2_Silent_p.L226L			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	226	EH 1.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGGCAGGCAGGACGGGGACG	0.687000													22	66					0	0	1	0	0
GPRASP1	9737	broad.mit.edu	37	X	101910587	101910587	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:101910587C>T	ENST00000537097.1	+	6	2559	c.1746C>T	c.(1744-1746)tcC>tcT	p.S582S	GPRASP1_ENST00000361600.5_Silent_p.S582S|GPRASP1_ENST00000415986.1_Silent_p.S582S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.S582S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	582	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TATTCGGGTCCTGGTTTTGGG	0.507000													47	43					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24350738	24350738	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24350738G>A	ENST00000175238.6	+	16	1921	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.G613E|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G385E|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	613	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGTGGAGAGGGAATGGTAAGA	0.363000													8	21					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72509663	72509663	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:72509663G>A	ENST00000373208.1	+	16	2358	c.2358G>A	c.(2356-2358)ctG>ctA	p.L786L	ADAMTS14_ENST00000373207.1_Silent_p.L783L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	783	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCATGGGCCTGGAGTGGGAGG	0.642000													20	47					0	0	1	0	0
C3orf14	57415	broad.mit.edu	37	3	62319002	62319002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:62319002C>T	ENST00000494481.1	+	6	639	c.325C>T	c.(325-327)Cct>Tct	p.P109S	PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.P109S|C3orf14_ENST00000232519.5_Missense_Mutation_p.P109S|PTPRG-AS1_ENST00000490916.1_RNA|C3orf14_ENST00000542214.1_Missense_Mutation_p.P109S			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	109										central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		AGCACCATATCCTTTTGCTGT	0.333000													29	12					0	0	1	0	0
ACPP	55	broad.mit.edu	37	3	132047123	132047123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:132047123G>A	ENST00000336375.5	+	2	223	c.133G>A	c.(133-135)Gga>Aga	p.G45R	ACPP_ENST00000351273.7_Missense_Mutation_p.G45R|ACPP_ENST00000475741.1_Missense_Mutation_p.G45R|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	45						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GTTTCGGCATGGAGACCGAAG	0.438000													13	49					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64394657	64394657	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:64394657C>T	ENST00000262043.3	+	4	1374	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	PHF3_ENST00000393387.1_Missense_Mutation_p.S345F|PHF3_ENST00000509330.1_Missense_Mutation_p.S345F			Q92576	PHF3_HUMAN	PHD finger protein 3	345					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TCTGATATTTCTAGTGATGCT	0.363000													9	27					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25176300	25176300	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:25176300G>A	ENST00000409280.1	-	10	1372	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	C7orf31_ENST00000283905.3_Missense_Mutation_p.S355F			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	355										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATCTGGACAGGAACGTGGTCT	0.463000													31	228					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23395389	23395389	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23395389G>A	ENST00000324366.8	-	7	953	c.730C>T	c.(730-732)Cct>Tct	p.P244S	PRMT5_ENST00000397441.2_Missense_Mutation_p.P227S|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000538452.1_Missense_Mutation_p.P138S|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.P183S|PRMT5_ENST00000553897.1_Missense_Mutation_p.P200S	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	244					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GAAAGAACAGGAAATCCCTTC	0.478000													22	86					0	0	1	0	0
OR10A4	283297	broad.mit.edu	37	11	6898226	6898226	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6898226G>A	ENST00000379829.2	+	1	371	c.348G>A	c.(346-348)ctG>ctA	p.L116L		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCTGCCTCCTGGCCACCATGG	0.542000													11	57					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111489	7111489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7111489G>A	ENST00000306904.5	+	1	1325	c.1138G>A	c.(1138-1140)Gga>Aga	p.G380R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	380	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCCGTCTAGGAGGCCGCTT	0.572000													4	11					0	0	1	0	0
ZNF76	7629	broad.mit.edu	37	6	35259093	35259093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35259093G>A	ENST00000373953.3	+	8	930	c.664G>A	c.(664-666)Gag>Aag	p.E222K	ZNF76_ENST00000440666.2_Missense_Mutation_p.E196K|ZNF76_ENST00000339411.5_Missense_Mutation_p.E222K	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	222					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCACACTGGTGAGAAACCATA	0.582000													6	25					0	0	1	0	0
GSTO1	9446	broad.mit.edu	37	10	106014984	106014984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:106014984C>T	ENST00000539281.1	+	2	370	c.14C>T	c.(13-15)cCg>cTg	p.P5L	GSTO1_ENST00000369713.5_Missense_Mutation_p.P33L|GSTO1_ENST00000369710.4_Missense_Mutation_p.P33L|GSTO1_ENST00000493946.1_3'UTR	NM_001191003.1	NP_001177932.1	P78417	GSTO1_HUMAN	glutathione S-transferase omega 1	33					xenobiotic metabolic process	cytosol	glutathione transferase activity|monodehydroascorbate reductase (NADH) activity			large_intestine(1)|lung(1)|stomach(1)	3		Colorectal(252;0.102)|Breast(234;0.122)		Epithelial(162;8.07e-10)|all cancers(201;2.72e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0147)	Glutathione(DB00143)	AGGTTCTGCCCGTTTGCTGAG	0.692000													10	43					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677325	37677325	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:37677325G>A	ENST00000532828.2	-	5	1365	c.1114C>T	c.(1114-1116)Cat>Tat	p.H372Y	CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.H317Y	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTCTCTGATGAATAATCAAC	0.423000													21	70					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209799204	209799204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209799204C>T	ENST00000391911.1	-	13	2154	c.1765G>A	c.(1765-1767)Gat>Aat	p.D589N	LAMB3_ENST00000356082.4_Missense_Mutation_p.D589N|LAMB3_ENST00000367030.3_Missense_Mutation_p.D589N	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	589	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGGTCCGCATCATAGGTCTGG	0.682000													14	38					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17353332	17353332	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:17353332C>T	ENST00000261381.6	-	3	510	c.426G>A	c.(424-426)ccG>ccA	p.P142P		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	142					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTTCTCTTTCGGCCGATGAG	0.478000													24	63					0	0	1	0	0
UBAC2	337867	broad.mit.edu	37	13	99853796	99853796	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:99853796C>T	ENST00000376440.2	+	1	634	c.131C>T	c.(130-132)tCc>tTc	p.S44F	UBAC2_ENST00000403766.3_Intron	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	185						integral to membrane				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGCTGTTTTCCTGGCGTGTT	0.502000											OREG0022482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	23					0	0	1	0	0
ZNF274	10782	broad.mit.edu	37	19	58718331	58718331	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58718331C>T	ENST00000326804.4	+	5	960	c.501C>T	c.(499-501)ttC>ttT	p.F167F	ZNF274_ENST00000345813.3_Silent_p.F135F|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Silent_p.F62F	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	167	SCAN box.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCGGCAGTTCCGTTATAAGG	0.617000													4	4					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179733900	179733900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179733900G>A	ENST00000420890.2	-	15	2455	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	CCDC141_ENST00000295723.5_Nonsense_Mutation_p.Q205*	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	205							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCGTAATCCTGGATTCTCTCT	0.418000													13	38					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776624	137776624	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:137776624C>T	ENST00000242375.3	+	3	414	c.372C>T	c.(370-372)gcC>gcT	p.A124A	AKR1D1_ENST00000468877.2_3'UTR|AKR1D1_ENST00000432161.1_Silent_p.A124A|AKR1D1_ENST00000411726.2_Silent_p.A124A	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	124					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TACCCATGGCCTTTAAGGTGA	0.507000													20	100					0	0	1	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030054	95030054	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:95030054C>A	ENST00000557004.1	+	2	656	c.235C>A	c.(235-237)Ccg>Acg	p.P79T	SERPINA4_ENST00000555095.1_Missense_Mutation_p.P79T|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.P79T			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	79					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.P79T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CTTTTTCTCCCCGCTGAGCAT	0.612000													4	74					1	1	1	1	0
SOS2	6655	broad.mit.edu	37	14	50625329	50625329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:50625329G>A	ENST00000216373.5	-	11	2162	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.R597C	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	630	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					CAAAATGAACGATATGTGGTA	0.299000													24	76					0	0	1	0	0
ACTR3B	57180	broad.mit.edu	37	7	152551575	152551575	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:152551575G>A	ENST00000256001.8	+	12	1328	c.1194G>A	c.(1192-1194)aaG>aaA	p.K398K	ACTR3B_ENST00000397282.2_Silent_p.K310K|ACTR3B_ENST00000377776.3_Silent_p.K328K|ACTR3B_ENST00000537264.1_Silent_p.K310K	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	398					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACACCAAGAAGGACTATGAAG	0.532000													17	67					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147012282	147012282	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:147012282G>A	ENST00000265272.5	-	13	2204	c.1737C>T	c.(1735-1737)gaC>gaT	p.D579D	JAKMIP2_ENST00000333010.6_Silent_p.D537D|JAKMIP2_ENST00000507386.1_Silent_p.D558D	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	579						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCATTCTGGTCTCTGGCGT	0.368000													44	139					0	0	1	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3139278	3139278	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3139278C>T	ENST00000252463.2	-	5	2079	c.1992G>A	c.(1990-1992)caG>caA	p.Q664Q	ZSCAN10_ENST00000538082.2_Silent_p.Q582Q|ZSCAN10_ENST00000575108.1_Silent_p.Q325Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	664					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GGGGCTCGGCCTGCTCCTGCC	0.706000													4	7					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930511	42930511	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42930511C>T	ENST00000244289.4	-	1	1067	c.791G>A	c.(790-792)gGa>gAa	p.G264E	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	264					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ACCAGATTTTCCTTTGAAGCC	0.488000													35	67					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737626	248737626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248737626C>T	ENST00000328782.2	-	1	454	c.433G>A	c.(433-435)Gtg>Atg	p.V145M		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCTGGCACACCCTCTGGTTC	0.547000													18	41					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129618920	129618920	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:129618920G>A	ENST00000421865.2	+	21	2996	c.2947G>A	c.(2947-2949)Gga>Aga	p.G983R		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	983	Laminin EGF-like 10.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGAAGAGAGTGGACAATGTTG	0.512000													13	13					0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572875	142572875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142572875C>T	ENST00000359396.3	-	9	1410	c.1165G>A	c.(1165-1167)Gag>Aag	p.E389K		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	389					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCACCAGCTCCCCGACCAGC	0.562000													35	57					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171108	207171108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:207171108C>T	ENST00000374423.3	+	5	2242	c.1856C>T	c.(1855-1857)cCc>cTc	p.P619L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	619							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAGCGTAAACCCAGTAGTGCT	0.423000													21	41					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26692917	26692917	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26692917C>T	ENST00000529632.2	+	4	1229	c.1033C>T	c.(1033-1035)Ctg>Ttg	p.L345L	SEZ6L_ENST00000248933.6_Silent_p.L345L|SEZ6L_ENST00000402979.1_Silent_p.L118L|SEZ6L_ENST00000343706.4_Silent_p.L345L|SEZ6L_ENST00000403121.1_Silent_p.L118L|SEZ6L_ENST00000404234.3_Silent_p.L345L|SEZ6L_ENST00000360929.3_Silent_p.L345L	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	345	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CGGCCCTACCCTGACCGTCCT	0.612000													11	27					0	0	1	0	0
DECR2	26063	broad.mit.edu	37	16	457472	457472	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:457472C>T	ENST00000219481.5	+	4	387	c.249C>T	c.(247-249)ctC>ctT	p.L83L	DECR2_ENST00000397710.1_Silent_p.L134L|DECR2_ENST00000461947.1_Intron|DECR2_ENST00000424398.2_Silent_p.L71L	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	83						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GCCTCCCTCTCTCTATGGACG	0.637000													13	27					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3649784	3649784	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:3649784C>T	ENST00000382622.3	+	2	478	c.88C>T	c.(88-90)Ccc>Tcc	p.P30S	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.P21S	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	30					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GAACAGCCCCCCCTCCCAGCC	0.657000													31	52					0	0	1	0	0
TUBG2	27175	broad.mit.edu	37	17	40818499	40818499	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40818499C>T	ENST00000251412.7	+	10	1354	c.1155C>T	c.(1153-1155)tcC>tcT	p.S385S		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	385					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCAGCATCTCCTCGGTGAGTC	0.582000													55	61					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080403	54080403	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54080403C>T	ENST00000253144.9	+	7	1922	c.589C>T	c.(589-591)Cga>Tga	p.R197*	ZNF331_ENST00000449416.1_Nonsense_Mutation_p.R197*|ZNF331_ENST00000512387.1_Nonsense_Mutation_p.R197*|ZNF331_ENST00000511154.1_Nonsense_Mutation_p.R197*|ZNF331_ENST00000513265.1_Intron|ZNF331_ENST00000513999.1_Nonsense_Mutation_p.R197*|ZNF331_ENST00000411977.2_Nonsense_Mutation_p.R197*|ZNF331_ENST00000511593.2_Nonsense_Mutation_p.R197*	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		GAAGGCTTTTCGATGGGGCTC	0.453000			T	?	follicular thyroid adenoma								22	60					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100683380	100683380	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100683380G>A	ENST00000306151.4	+	3	8747	c.8683G>A	c.(8683-8685)Gat>Aat	p.D2895N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2895	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTGTTGATACCAGCAT	0.478000													219	162					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967853	4967853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4967853G>A	ENST00000380373.2	-	1	503	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAAGGGAAGGGAAGAACCAGG	0.438000													79	199					0	0	1	0	0
HAPLN2	60484	broad.mit.edu	37	1	156593776	156593776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:156593776G>A	ENST00000255039.1	+	4	670	c.263G>A	c.(262-264)gGa>gAa	p.G88E		NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	88	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATCACCAACGGACTGCACGCC	0.701000													11	14					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32491824	32491824	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32491824C>T	ENST00000281474.5	+	8	2778	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	BICD1_ENST00000548411.1_Intron	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	892					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCCACAGAATCATTTCTTCTG	0.493000													52	84					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4928768	4928768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4928768G>A	ENST00000359350.4	+	1	169	c.169G>A	c.(169-171)Gag>Aag	p.E57K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCGCTTCATGAGCCCATGTA	0.488000													52	61					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56204103	56204103	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56204103G>A	ENST00000361673.3	-	5	3529	c.3316C>T	c.(3316-3318)Ctg>Ttg	p.L1106L	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1106							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TCTCCAGACAGGTTATCAACC	0.517000													65	98					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2820365	2820365	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2820365C>T	ENST00000301740.8	+	13	8583	c.8034C>T	c.(8032-8034)ccC>ccT	p.P2678P		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2678	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CCCGCAGCCCCCGGAAGCCAA	0.662000													3	8					0	0	1	0	0
GLIPR1L1	256710	broad.mit.edu	37	12	75737648	75737648	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:75737648G>A	ENST00000312442.2	+	2	396	c.350G>A	c.(349-351)tGg>tAg	p.W117*	GLIPR1L1_ENST00000378695.4_Nonsense_Mutation_p.W117*|CAPS2_ENST00000442339.2_Intron	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	117						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						ATTACGGCTTGGTATAATGAA	0.333000													19	30					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39799086	39799086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:39799086C>T	ENST00000564288.1	+	37	7603	c.6826C>T	c.(6826-6828)Cca>Tca	p.P2276S	MACF1_ENST00000567887.1_Missense_Mutation_p.P2313S|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.P716S|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.P2281S			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2281					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCAGTCATCCATTAGAATT	0.388000													14	26					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	33673202	33673202	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:33673202G>A	ENST00000354992.2	-	15	2488	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	LARGE_ENST00000452586.2_Silent_p.F438F|LARGE_ENST00000402320.1_Silent_p.F587F|LARGE_ENST00000337431.2_Silent_p.F587F|LARGE_ENST00000397394.2_Silent_p.F639F|LARGE_ENST00000437602.2_Silent_p.F590F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	639					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity	p.F639F(2)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				GCCACTTGGCGAAGTTTGTGG	0.582000													5	36					0	0	1	0	0
ZNF211	10520	broad.mit.edu	37	19	58153167	58153167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58153167C>T	ENST00000544273.1	+	5	1676	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	ZNF211_ENST00000420680.1_Missense_Mutation_p.S442F|ZNF211_ENST00000541801.1_Missense_Mutation_p.S429F|ZNF211_ENST00000254182.7_Missense_Mutation_p.S429F|ZNF211_ENST00000391703.3_Missense_Mutation_p.S377F|ZNF211_ENST00000347302.3_Missense_Mutation_p.S438F|ZNF211_ENST00000240731.4_Missense_Mutation_p.S451F|ZNF211_ENST00000299871.5_Missense_Mutation_p.S503F			Q13398	ZN211_HUMAN	zinc finger protein 211	438						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S451C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCAAAGCTCCAGCTTCAGT	0.488000													30	37					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967636	15967636	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:15967636G>A	ENST00000350896.3	-	9	1322	c.1125C>T	c.(1123-1125)gcC>gcT	p.A375A	MSR1_ENST00000445506.2_Silent_p.A456A|MSR1_ENST00000262101.5_Silent_p.A438A|MSR1_ENST00000355282.2_Silent_p.A375A	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	438	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		AATGTGAACAGGCTCTTGTCC	0.368000													12	60					0	0	1	0	0
ZFAND6	54469	broad.mit.edu	37	15	80429888	80429888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:80429888C>T	ENST00000261749.6	+	7	967	c.545C>T	c.(544-546)tCt>tTt	p.S182F	ZFAND6_ENST00000559775.1_Missense_Mutation_p.S182F|ZFAND6_ENST00000561060.1_Missense_Mutation_p.S182F|ZFAND6_ENST00000558494.1_Missense_Mutation_p.S182F|ZFAND6_ENST00000559835.1_Missense_Mutation_p.S182F|ZFAND6_ENST00000558087.1_Missense_Mutation_p.S182F|ZFAND6_ENST00000559157.1_Missense_Mutation_p.S170F	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	182							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CACAATTGCTCTTACAATTAC	0.388000													17	42					0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55860149	55860149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:55860149C>T	ENST00000422046.2	-	3	597	c.316G>A	c.(316-318)Gag>Aag	p.E106K	CES1_ENST00000566555.1_5'UTR|CES1_ENST00000361503.4_Missense_Mutation_p.E106K|CES1_ENST00000360526.3_Missense_Mutation_p.E107K			P23141	EST1_HUMAN	carboxylesterase 1	106				KEN -> PAD (in Ref. 14; AA sequence).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	GGAATGTTCTCCTTTCGGTTT	0.493000													43	168					0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140611623	140611623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140611623G>A	ENST00000460843.1	+	3	658	c.631G>A	c.(631-633)Gtc>Atc	p.V211I	EHMT1_ENST00000462484.1_Missense_Mutation_p.V211I|EHMT1_ENST00000334856.6_Missense_Mutation_p.V180I|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	211					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCCGAAGTCCGTCGTGGGCCT	0.547000													9	13					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135015131	135015131	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135015131C>T	ENST00000304613.3	+	17	3137	c.3116C>T	c.(3115-3117)tCc>tTc	p.S1039F	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1041F|KNDC1_ENST00000368571.2_Missense_Mutation_p.S974F			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1039					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCTCAGAGGTCCGTAAAAGCC	0.672000													41	15					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10973741	10973741	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:10973741C>T	ENST00000304623.8	-	22	3691	c.3502G>A	c.(3502-3504)Gat>Aat	p.D1168N	CTNND2_ENST00000458100.2_Missense_Mutation_p.D735N|CTNND2_ENST00000511377.1_Missense_Mutation_p.D1077N|CTNND2_ENST00000503622.1_Missense_Mutation_p.D831N|CTNND2_ENST00000359640.2_Missense_Mutation_p.D1110N|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1168					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						AAGGACTCATCGTAATTTCTT	0.527000													59	24					0	0	1	0	0
ACSL3	2181	broad.mit.edu	37	2	223773638	223773638	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:223773638G>T	ENST00000357430.3	+	4	679	c.148G>T	c.(148-150)Gaa>Taa	p.E50*	ACSL3_ENST00000392066.3_Nonsense_Mutation_p.E50*	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	50					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GTCAAGACAAGAAAAATCAAA	0.299000			T	ETV1	prostate								15	29					2.32078e-09	2.33445e-09	1	1	0
XKR6	286046	broad.mit.edu	37	8	10756221	10756221	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10756221G>A	ENST00000416569.2	-	3	1193	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	XKR6_ENST00000304437.2_Silent_p.F110F	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	389						integral to membrane		p.F389F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GAACCACCACGAAGATCCCAA	0.532000													21	47					0	0	1	0	0
CLMN	79789	broad.mit.edu	37	14	95670554	95670554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:95670554C>T	ENST00000298912.4	-	9	1245	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	378						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGCATGAACTCGGTGGAGCTG	0.542000													25	58					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8590433	8590433	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8590433C>T	ENST00000338257.8	-	25	3051	c.2784G>A	c.(2782-2784)aaG>aaA	p.K928K		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	928						unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TGGCCATTCCCTTCCGCGTAG	0.612000													23	35					0	0	1	0	0
WDR82	80335	broad.mit.edu	37	3	52293735	52293735	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52293735C>A	ENST00000296490.3	-	6	978	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W		NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82	233					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		CAGCTCACCCCAAATGTGTGC	0.448000													5	237					0.217242	0.217282	1	1	0
HUNK	30811	broad.mit.edu	37	21	33331204	33331204	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:33331204G>A	ENST00000270112.2	+	5	1156	c.796G>A	c.(796-798)Gag>Aag	p.E266K		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	266	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTTCACGGTGGAGCCTTTCAG	0.537000													30	83					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21698479	21698479	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21698479G>A	ENST00000328843.6	+	30	5204	c.5173G>A	c.(5173-5175)Gaa>Aaa	p.E1725K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E1720K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1725	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1725Q(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTCTATAACAGAAGCCATAGT	0.438000									Kartagener syndrome				6	18					0	0	1	0	0
PEX2	5828	broad.mit.edu	37	8	77896146	77896146	+	Missense_Mutation	SNP	G	G	A	rs146354196	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:77896146G>A	ENST00000419564.2	-	4	733	c.269C>T	c.(268-270)tCc>tTc	p.S90F	PEX2_ENST00000522527.1_Missense_Mutation_p.S90F|PEX2_ENST00000520103.1_Missense_Mutation_p.S90F|PEX2_ENST00000357039.4_Missense_Mutation_p.S90F	NM_001172087.1	NP_001165558.1	P28328	PEX2_HUMAN	peroxisomal biogenesis factor 2	90					peroxisome organization	integral to peroxisomal membrane	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	14						CAGGTTAGGGGAAAAATCATT	0.388000													7	22					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847805	95847805	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:95847805C>T	ENST00000398107.2	+	4	1628	c.1106C>T	c.(1105-1107)tCt>tTt	p.S369F	ZNF2_ENST00000425369.1_Missense_Mutation_p.S331F|ZNF2_ENST00000340539.5_Missense_Mutation_p.S411F|ZNF2_ENST00000295210.6_Missense_Mutation_p.S373F|ZNF2_ENST00000453539.2_Missense_Mutation_p.S424F	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	410				Y -> H (in Ref. 2; AAH05068).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		AGTTCAAAATCTTCTGTTATT	0.488000													9	47					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039120	31039120	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31039120C>T	ENST00000355537.3	+	4	2741	c.2594C>T	c.(2593-2595)tCc>tTc	p.S865F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	865					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGGTTCTCTCCTCTGGAGAT	0.582000													44	36					0	0	1	0	0
B4GALNT1	2583	broad.mit.edu	37	12	58022621	58022621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58022621G>A	ENST00000341156.4	-	8	1461	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	B4GALNT1_ENST00000449184.3_Missense_Mutation_p.R260W|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.R238W	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	293					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ATGAGAGCCCGTAGCCGATCA	0.582000													30	34					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24936055	24936055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:24936055C>T	ENST00000533227.1	+	7	522	c.235C>T	c.(235-237)Cgt>Tgt	p.R79C	LUZP2_ENST00000336930.6_Missense_Mutation_p.R165C	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	165						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAAGGAGCTTCGTTATGGGAA	0.318000													19	20					0	0	1	0	0
HS3ST1	9957	broad.mit.edu	37	4	11400794	11400794	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:11400794G>A	ENST00000002596.5	-	2	2010	c.836C>T	c.(835-837)cCc>cTc	p.P279L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	279						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GAGTAGTTTGGGATCGACTTG	0.483000													38	9					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512786	248512786	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248512786C>T	ENST00000317861.1	+	1	710	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						AAGGCCTTTTCCACCTGCATC	0.522000													15	89					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41573875	41573875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:41573875C>T	ENST00000263253.7	+	31	7379	c.6160C>T	c.(6160-6162)Ctt>Ttt	p.L2054F	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2054	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CTTACAAAACCTTTTGCGGAC	0.537000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				28	73					0	0	1	0	0
SPINK13	153218	broad.mit.edu	37	5	147665576	147665576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:147665576C>T	ENST00000512953.1	+	6	781	c.250C>T	c.(250-252)Cgt>Tgt	p.R84C	RP11-373N22.3_ENST00000501695.3_RNA|SPINK13_ENST00000511106.1_Missense_Mutation_p.R44C|SPINK13_ENST00000398450.4_Missense_Mutation_p.R84C			Q1W4C9	ISK13_HUMAN	serine peptidase inhibitor, Kazal type 13 (putative)	84	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			breast(2)|lung(3)	5						ATTTCATTATCGTATAAAATT	0.269000													11	40					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57769065	57769065	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57769065C>T	ENST00000371030.2	+	1	2991	c.2991C>T	c.(2989-2991)tcC>tcT	p.S997S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	997						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CAGGCCCCTCCCCAGGTGAGG	0.637000													22	41					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97276607	97276607	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:97276607G>A	ENST00000599854.1	-	11	1381	c.914C>T	c.(913-915)cCc>cTc	p.P305L	KANSL3_ENST00000431828.1_Missense_Mutation_p.P392L|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000441706.2_Missense_Mutation_p.P305L|KANSL3_ENST00000440133.1_Missense_Mutation_p.P186L	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	392																	ATCCAAGAGGGGATCATCTAC	0.458000													28	130					0	0	1	0	0
NPIPB15	440348	broad.mit.edu	37	16	74425463	74425463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:74425463C>T	ENST00000429990.1	+	7	913	c.817C>T	c.(817-819)Ccc>Tcc	p.P273S						nuclear pore complex interacting protein family, member B15																		TCTCCTTCATCCCCTTCCACC	0.498000													24	55					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891418	44891418	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44891418G>A	ENST00000330997.4	-	4	1053	c.989C>T	c.(988-990)tCc>tTc	p.S330F	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S337F|ZNF285_ENST00000544719.2_Missense_Mutation_p.S330F	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						GTTGTGAAGGGAAGAGCTGCG	0.473000													21	71					0	0	1	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224669	172224669	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:172224669G>A	ENST00000241261.2	-	5	581	c.459C>T	c.(457-459)tcC>tcT	p.S153S	TNFSF10_ENST00000420541.2_3'UTR	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	153					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			ATGATTCCCAGGAGTTTATTT	0.433000													7	22					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230075	21230075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21230075G>A	ENST00000233242.1	-	26	9792	c.9665C>T	c.(9664-9666)tCc>tTc	p.S3222F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3222	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCATTATAGGATTTGGTGAC	0.368000													250	368					0	0	1	0	0
CATSPER4	378807	broad.mit.edu	37	1	26527421	26527421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:26527421G>A	ENST00000456354.2	+	8	1155	c.1088G>A	c.(1087-1089)gGa>gAa	p.G363E		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	363					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTTGCGGGAGGCCCCCTG	0.562000													54	8					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113567957	113567957	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:113567957C>T	ENST00000509061.1	+	7	722	c.419C>T	c.(418-420)cCc>cTc	p.P140L	LARP7_ENST00000344442.5_Missense_Mutation_p.P133L|LARP7_ENST00000324052.6_Missense_Mutation_p.P133L|MIR302B_ENST00000505215.1_RNA|MIR302B_ENST00000509938.1_RNA|MIR302B_ENST00000510655.1_RNA	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	133	RRM.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAGTTACTTCCCAAAAATGTT	0.289000													41	47					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89953898	89953898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:89953898G>A	ENST00000405460.2	+	21	4651	c.4555G>A	c.(4555-4557)Gga>Aga	p.G1519R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1519	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTCAGACAGGGAGAAACTAA	0.383000													23	50					0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13761720	13761720	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:13761720G>A	ENST00000279593.3	-	9	2036	c.1827C>T	c.(1825-1827)ctC>ctT	p.L609L		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	609					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAGACCCCAGAGCAACCAAA	0.507000													16	71					0	0	1	0	0
EEF1D	1936	broad.mit.edu	37	8	144671980	144671980	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144671980G>A	ENST00000532741.1	-	1	650	c.422C>T	c.(421-423)tCc>tTc	p.S141F	EEF1D_ENST00000395119.3_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000529272.1_Intron|EEF1D_ENST00000419152.2_Intron|EEF1D_ENST00000524624.1_Intron|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000423316.2_Missense_Mutation_p.S91F|EEF1D_ENST00000317198.6_Intron|EEF1D_ENST00000442189.2_Missense_Mutation_p.S91F|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000528610.1_Intron			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	0					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCTCTTGGGGGAGCGCTTCCT	0.672000													15	5					0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	192818516	192818516	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:192818516C>T	ENST00000392314.1	-	9	1308	c.917G>A	c.(916-918)aGt>aAt	p.S306N	TMEFF2_ENST00000272771.5_Missense_Mutation_p.S306N|AC098617.1_ENST00000424116.2_RNA|AC098617.1_ENST00000428980.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	306	Required for shedding.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			GTATAGAACACTGTAGTCCTT	0.428000													40	13					0	0	1	0	0
PSD	5662	broad.mit.edu	37	10	104174841	104174841	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:104174841G>A	ENST00000020673.5	-	4	1429	c.903C>T	c.(901-903)atC>atT	p.I301I	PSD_ENST00000406432.1_Silent_p.I301I	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	301					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GCACCTCATCGATGTCAGTCT	0.672000													8	26					0	0	1	0	0
AK9	221264	broad.mit.edu	37	6	109819150	109819150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:109819150C>T	ENST00000424296.2	-	37	5141	c.5065G>A	c.(5065-5067)Gaa>Aaa	p.E1689K	RP5-919F19.5_ENST00000423747.1_RNA	NM_001145128.2	NP_001138600.2			adenylate kinase 9																		ACGTACAATTCTGGGTTCTCC	0.458000													14	31					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32996150	32996150	+	Silent	SNP	C	C	T	rs140301552		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32996150C>T	ENST00000070846.6	-	6	1500	c.1476G>A	c.(1474-1476)acG>acA	p.T492T	PKP2_ENST00000340811.4_Intron	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	492					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					ctcctgacctcgtgatccgcc	0.547000													13	8					0	0	1	0	0
KBTBD7	84078	broad.mit.edu	37	13	41768229	41768229	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:41768229G>A	ENST00000379483.3	-	1	473	c.165C>T	c.(163-165)tcC>tcT	p.S55S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	55							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CGTCGTAGAAGGACTTGAGCT	0.607000													33	24					0	0	1	0	0
HCRT	3060	broad.mit.edu	37	17	40336477	40336477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40336477C>T	ENST00000293330.1	-	2	177	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_001524.1	NP_001515.1	O43612	OREX_HUMAN	hypocretin (orexin) neuropeptide precursor	31					neuropeptide signaling pathway	cell junction|extracellular region|rough endoplasmic reticulum|synaptic vesicle				breast(1)|central_nervous_system(1)	2		all_cancers(22;1.39e-06)|all_epithelial(22;9.98e-06)|Breast(137;0.000143)|Ovarian(249;0.0221)|Myeloproliferative disorder(1115;0.0255)|Colorectal(1115;0.069)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TGTGCAGCCGCCCCGGACGAC	0.701000													5	12					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2012119	2012119	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2012119G>A	ENST00000343262.4	-	7	918	c.862C>T	c.(862-864)Cca>Tca	p.P288S	RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000526522.1_Missense_Mutation_p.P230S|RPS2_ENST00000530225.1_3'UTR	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	288					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCCACAGCTGGAGCCTGAGTC	0.478000													23	8					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9050067	9050067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9050067C>T	ENST00000397910.4	-	5	31767	c.31564G>A	c.(31564-31566)Gaa>Aaa	p.E10522K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10524	Thr-rich.			L -> P (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.E10522K(1)|p.E6155K(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATCATCATTTCTGTGGGGATT	0.507000													116	286					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489886	58489886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58489886G>A	ENST00000341164.4	-	7	2782	c.2162C>T	c.(2161-2163)tCa>tTa	p.S721L	ZNF606_ENST00000536132.1_Missense_Mutation_p.S631L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		AATAAGGGATGAACTCTCATT	0.368000													25	46					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833981	61833981	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61833981G>A	ENST00000280772.1	-	37	6849	c.6658C>T	c.(6658-6660)Caa>Taa	p.Q2220*	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2220					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCTTTCATTTGAAATGCTTTA	0.423000													71	38					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39226590	39226590	+	Silent	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39226590G>T	ENST00000340369.3	-	2	4575	c.4347C>A	c.(4345-4347)ccC>ccA	p.P1449P	XIRP1_ENST00000421646.1_Silent_p.P132P|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1449							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AACCTTCCATGGGCTGCTCTC	0.627000													69	45					5.21738e-30	5.29093e-30	1	1	0
RPS6KA6	27330	broad.mit.edu	37	X	83360882	83360882	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:83360882G>A	ENST00000262752.2	-	16	1375	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Silent_p.I456I	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	456	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TTTTGTCAATGATCTAAGAAA	0.299000													28	1					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605445	140605445	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140605445C>T	ENST00000239449.4	+	1	2368	c.2368C>T	c.(2368-2370)Cga>Tga	p.R790*	PCDHB14_ENST00000515856.2_Nonsense_Mutation_p.R637*	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGAACTTTCGAAATAGCTT	0.343000													37	19					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14746951	14746951	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:14746951G>A	ENST00000380881.4	-	35	6926	c.6111C>T	c.(6109-6111)atC>atT	p.I2037I	FREM1_ENST00000380880.3_Silent_p.I2036I|FREM1_ENST00000422223.2_Silent_p.I2036I|FREM1_ENST00000380894.1_Silent_p.I572I			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2036					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.I2037I(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTTTCCAGGCGATCCCATTGC	0.488000													6	12					0	0	1	0	0
HLA-DQB1	3119	broad.mit.edu	37	6	32629236	32629236	+	Splice_Site	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32629236T>G	ENST00000399084.1	-	5	840		c.e5-2		HLA-DQB1_ENST00000399082.3_Intron|XXbac-BPG254F23.6_ENST00000443574.1_RNA|HLA-DQB1_ENST00000399079.3_Intron|HLA-DQB1_ENST00000374943.4_Splice_Site|HLA-DQB1_ENST00000434651.2_Splice_Site			P01920	DQB1_HUMAN	major histocompatibility complex, class II, DQ beta 1						antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTGAGCCCCTAAAGAGCAGA	0.542000									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Sjgren syndrome;Melanoma, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				9	8					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169194513	169194513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:169194513G>A	ENST00000393743.3	-	18	2782	c.2491C>T	c.(2491-2493)Cgt>Tgt	p.R831C		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	831	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCGTAAAACGATTCTGAACA	0.393000													11	32					0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	62994231	62994231	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:62994231G>A	ENST00000561311.1	+	17	1967	c.1737G>A	c.(1735-1737)gcG>gcA	p.A579A	TLN2_ENST00000306829.6_Silent_p.A579A			Q9Y4G6	TLN2_HUMAN	talin 2	579					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGGGATGTGCGATCACCACTA	0.537000													27	51					0	0	1	0	0
CLECL1	160365	broad.mit.edu	37	12	9885592	9885592	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:9885592G>T	ENST00000327839.3	-	1	303	c.269C>A	c.(268-270)aCt>aAt	p.T90N		NM_172004.3	NP_742001.1	Q8IZS7	CLCL1_HUMAN	C-type lectin-like 1	90						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						AGTCCGAACAGTTTTGATGTC	0.428000													21	63					1.50039e-11	1.51229e-11	1	1	0
SGSM3	27352	broad.mit.edu	37	22	40803046	40803046	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:40803046G>A	ENST00000248929.9	+	11	1400	c.1211G>A	c.(1210-1212)aGg>aAg	p.R404K	SGSM3_ENST00000454798.2_Missense_Mutation_p.R337K	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	404					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						ACCCAGCGGAGGAAGTCCACC	0.627000													4	1					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77227570	77227570	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:77227570C>T	ENST00000253506.5	+	8	2449	c.2080C>T	c.(2080-2082)Ctt>Ttt	p.L694F	NFATC1_ENST00000329101.4_Missense_Mutation_p.L681F|NFATC1_ENST00000542384.1_Missense_Mutation_p.L694F|NFATC1_ENST00000427363.2_Missense_Mutation_p.L694F|NFATC1_ENST00000591814.1_Missense_Mutation_p.L694F|NFATC1_ENST00000397790.2_Missense_Mutation_p.L222F|NFATC1_ENST00000586434.1_Missense_Mutation_p.L681F|NFATC1_ENST00000545796.1_Missense_Mutation_p.L222F|NFATC1_ENST00000318065.5_Missense_Mutation_p.L681F|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000592223.1_Missense_Mutation_p.L681F	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	694					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		TTTCACCTACCTTCCCGCCAA	0.537000													14	12					0	0	1	0	0
GLUD1	2746	broad.mit.edu	37	10	88836409	88836409	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:88836409G>A	ENST00000277865.4	-	2	546	c.450C>T	c.(448-450)atC>atT	p.I150I	GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Silent_p.I17I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	150					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGCTGTAACGGATACCTGGTG	0.398000													19	35					0	0	1	0	0
ZNF597	146434	broad.mit.edu	37	16	3487421	3487421	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3487421G>A	ENST00000301744.4	-	4	513	c.278C>T	c.(277-279)tCc>tTc	p.S93F	LA16c-306E5.2_ENST00000575785.1_RNA	NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						ATCCTCAGAGGATTTTTCTGG	0.443000													44	31					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67688816	67688816	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:67688816C>T	ENST00000545606.1	+	4	808	c.371C>T	c.(370-372)tCt>tTt	p.S124F		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	124					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CATGCAGGCTCTGCATTAGCT	0.363000													21	32					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43817595	43817595	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43817595G>A	ENST00000382031.1	+	5	4669	c.4638G>A	c.(4636-4638)gcG>gcA	p.A1546A	MAP1A_ENST00000399453.1_Silent_p.A1308A|MAP1A_ENST00000300231.5_Silent_p.A1308A			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1308						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TACCTGGGGCGATCACAAGCC	0.507000													48	45					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666597	12666597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12666597G>A	ENST00000425538.1	+	14	2797	c.2597G>A	c.(2596-2598)gGa>gAa	p.G866E	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.G818E	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	818					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGCCCCCTAGGAAAGATGAGT	0.478000													62	32					0	0	1	0	0
CFLAR	8837	broad.mit.edu	37	2	202025520	202025520	+	Missense_Mutation	SNP	G	G	C	rs77962008	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:202025520G>C	ENST00000309955.2	+	9	1674	c.1159G>C	c.(1159-1161)Gct>Cct	p.A387P	CFLAR_ENST00000443227.1_Missense_Mutation_p.A291P|CFLAR_ENST00000423241.2_Missense_Mutation_p.A387P|CFLAR_ENST00000341582.6_Missense_Mutation_p.A352P|CFLAR_ENST00000457277.1_Missense_Mutation_p.A387P|CFLAR_ENST00000340870.5_Missense_Mutation_p.A387P|CFLAR_ENST00000479953.2_Missense_Mutation_p.A291P|CFLAR_ENST00000355558.4_Intron	NM_003879.5	NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator	387	Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 subunits p18 and p10.|Interaction with caspase-8.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						GGAATTCAAGGCTCAGAAGCG	0.542000													19	11					0	0	1	0	0
TCP11	6954	broad.mit.edu	37	6	35088319	35088319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35088319G>A	ENST00000311875.5	-	7	1276	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	TCP11_ENST00000512012.1_Missense_Mutation_p.P274S|TCP11_ENST00000412155.2_Missense_Mutation_p.P236S|TCP11_ENST00000444780.2_Missense_Mutation_p.P282S|TCP11_ENST00000373979.2_Missense_Mutation_p.P212S|TCP11_ENST00000373974.4_Missense_Mutation_p.P241S|TCP11_ENST00000418521.2_Missense_Mutation_p.P211S|TCP11_ENST00000244645.3_Missense_Mutation_p.P212S			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	274					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						TTGGGAGAGGGGCCAGCCACA	0.567000													19	90					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11545988	11545988	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11545988G>A	ENST00000389362.4	-	3	1059	c.1024C>T	c.(1024-1026)Cca>Tca	p.P342S	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGCTTTCCTGGAGGTGGGGGA	0.607000													127	149					0	0	1	0	0
SGK1	6446	broad.mit.edu	37	6	134495211	134495211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:134495211C>T	ENST00000367858.5	-	5	1042	c.445G>A	c.(445-447)Gtt>Att	p.V149I	SGK1_ENST00000528577.1_Missense_Mutation_p.V82I|SGK1_ENST00000367857.5_Missense_Mutation_p.V44I|SGK1_ENST00000237305.7_Missense_Mutation_p.V54I|SGK1_ENST00000475719.2_Missense_Mutation_p.V54I|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000413996.3_Missense_Mutation_p.V68I	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	54	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		ATGGACTGAACTTCAGGGCTG	0.498000													19	27					0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42768706	42768706	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:42768706C>A	ENST00000432191.2	+	4	248	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	PPHLN1_ENST00000395568.2_Missense_Mutation_p.S114Y|PPHLN1_ENST00000358314.7_Missense_Mutation_p.S114Y|PPHLN1_ENST00000317560.9_Missense_Mutation_p.S66Y|PPHLN1_ENST00000549190.1_Missense_Mutation_p.S132Y|PPHLN1_ENST00000395580.3_Missense_Mutation_p.S121Y|PPHLN1_ENST00000449194.2_Missense_Mutation_p.S114Y|PPHLN1_ENST00000256678.8_Missense_Mutation_p.S13Y|PPHLN1_ENST00000337898.6_Missense_Mutation_p.S59Y|PPHLN1_ENST00000552761.1_Missense_Mutation_p.S66Y	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	114					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TTCTACTCTTCCCATTATGCG	0.368000													22	25					8.04996e-18	8.13628e-18	1	1	0
AMBRA1	55626	broad.mit.edu	37	11	46564639	46564639	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:46564639G>A	ENST00000458649.2	-	7	1346	c.928C>T	c.(928-930)Ctt>Ttt	p.L310F	AMBRA1_ENST00000298834.3_Missense_Mutation_p.L310F|AMBRA1_ENST00000314845.3_Intron|AMBRA1_ENST00000426438.1_Missense_Mutation_p.L310F|AMBRA1_ENST00000534300.1_Missense_Mutation_p.L310F|AMBRA1_ENST00000533727.1_Intron|AMBRA1_ENST00000528950.1_Missense_Mutation_p.L310F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	310					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CGGCTGCAAAGGCACAGGATC	0.612000													8	6					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46823780	46823780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46823780C>T	ENST00000339613.2	+	9	1193	c.938C>T	c.(937-939)cCc>cTc	p.P313L	HIF3A_ENST00000472815.1_Missense_Mutation_p.P300L|HIF3A_ENST00000420102.2_Missense_Mutation_p.P318L|HIF3A_ENST00000377670.4_Missense_Mutation_p.P369L|HIF3A_ENST00000244303.6_Missense_Mutation_p.P300L|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.P300L|HIF3A_ENST00000300862.3_Missense_Mutation_p.P367L			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CGGGGCGCCCCCTCTCAGAAG	0.647000													38	56					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510608	5510608	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5510608C>T	ENST00000322641.5	+	1	694	c.672C>T	c.(670-672)atC>atT	p.I224I	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	224					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)		ATGGCTTTATCCTCCATGCAG	0.488000													43	139					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179396239	179396239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179396239C>T	ENST00000589042.1	-	358	105327	c.105103G>A	c.(105103-105105)Gat>Aat	p.D35035N	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D32467N|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D25970N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26095N|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26162N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D33394N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000587944.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33394							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTATAATCCCCTCCTGTC	0.493000													34	29					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87655989	87655989	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:87655989C>T	ENST00000320005.5	-	10	1215	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	390					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCGTTTCCTTCCCCATCATAC	0.348000													13	39					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72945424	72945424	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72945424C>T	ENST00000328801.4	+	7	1704	c.1704C>T	c.(1702-1704)ttC>ttT	p.F568F		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	568						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGATATGGTTCGCCATCGTCA	0.587000													59	54					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76023665	76023665	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76023665T>C	ENST00000393004.2	-	5	2104	c.1883A>G	c.(1882-1884)aAg>aGg	p.K628R	FILIP1_ENST00000237172.7_Missense_Mutation_p.K628R|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.K529R			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	628										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCCTTAATCTTATTATCTTC	0.403000													47	51					0	0	1	0	0
TTC39A	22996	broad.mit.edu	37	1	51756260	51756260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:51756260C>T	ENST00000447632.2	-	15	1460	c.1412G>A	c.(1411-1413)gGg>gAg	p.G471E	TTC39A_ENST00000534098.1_5'UTR|TTC39A_ENST00000371750.5_Missense_Mutation_p.G436E|TTC39A_ENST00000262675.7_Missense_Mutation_p.G408E|TTC39A_ENST00000530004.1_Missense_Mutation_p.G79E|TTC39A_ENST00000413473.2_Missense_Mutation_p.G439E|TTC39A_ENST00000451380.1_Missense_Mutation_p.G435E			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	471							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CGGCTGCTTCCCAATCACGGC	0.537000													3	10					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52520482	52520482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52520482G>A	ENST00000216286.5	-	5	1243	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	NID2_ENST00000541773.1_Missense_Mutation_p.P362L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	415						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TCCGTTTTCGGGGTACGGTGG	0.552000													24	84					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206166306	206166306	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:206166306G>A	ENST00000406610.2	+	18	2718	c.2511G>A	c.(2509-2511)acG>acA	p.T837T	PARD3B_ENST00000349953.3_Silent_p.T837T|PARD3B_ENST00000462231.1_Silent_p.T837T|PARD3B_ENST00000358768.2_Silent_p.T775T|PARD3B_ENST00000351153.1_Silent_p.T768T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	837	Lys-rich.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TCAAAAAAACgaaagagaagg	0.433000													9	30					0	0	1	0	0
CCL16	6360	broad.mit.edu	37	17	34305218	34305218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:34305218C>T	ENST00000293275.3	-	2	233	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	53					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTTCTGTATCCCACCACTAG	0.502000													87	152					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74884997	74884997	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:74884997T>C	ENST00000357877.2	+	4	524	c.375T>C	c.(373-375)ttT>ttC	p.F125F	SEMA4F_ENST00000339773.5_Intron	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	125	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCACAATTTTGTCCAGATTC	0.517000													100	35					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108497822	108497822	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:108497822C>T	ENST00000368986.4	+	4	1083	c.375C>T	c.(373-375)ctC>ctT	p.L125L	NR2E1_ENST00000368983.3_Silent_p.L162L|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	125					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		CGGCGGCGCTCCCTGCGCCGG	0.711000													5	12					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798447	55798447	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55798447C>T	ENST00000313555.1	+	1	553	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCCACCTCTTCTGGCTTTATC	0.418000													96	126					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39082213	39082213	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:39082213A>G	ENST00000295373.6	-	8	2017	c.1891T>C	c.(1891-1893)Tta>Cta	p.L631L		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	631	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ACACTTTCTAACCGAATCTGG	0.448000													63	456					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949635	27949635	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:27949635C>T	ENST00000379992.2	-	6	1484	c.1035G>A	c.(1033-1035)agG>agA	p.R345R	LINGO2_ENST00000308675.3_Silent_p.R345R	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	345						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCTCCAGAGCCCTAGGGGAGG	0.562000													23	5					0	0	1	0	0
SIDT1	54847	broad.mit.edu	37	3	113303604	113303604	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:113303604C>T	ENST00000264852.4	+	8	1621	c.895C>T	c.(895-897)Cct>Tct	p.P299S	SIDT1_ENST00000393830.3_Missense_Mutation_p.P299S	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	299						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						GACCATTGTCCCTTCCATTAA	0.358000													13	49					0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79664602	79664602	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:79664602A>G	ENST00000275034.4	-	35	4149	c.3982T>C	c.(3982-3984)Ttg>Ctg	p.L1328L	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404.3	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1328					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AGATTTAACAATTCTTCACAC	0.353000													9	8					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27538822	27538822	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27538822G>A	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							ACTACATTAGGGAGCTCTGGA	0.527000													88	106					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34008484	34008484	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:34008484C>T	ENST00000373381.4	-	58	9289	c.9113G>A	c.(9112-9114)gGg>gAg	p.G3038E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3013	Sushi 23.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCCAGGGTTCCCACAAGAGAT	0.493000													9	2					0	0	1	0	0
SYNRG	11276	broad.mit.edu	37	17	35900518	35900518	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:35900518G>A	ENST00000339208.6	-	16	3470	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	SYNRG_ENST00000585472.1_Silent_p.I1031I|SYNRG_ENST00000345615.4_Silent_p.I1032I|SYNRG_ENST00000591288.1_Silent_p.I904I|SYNRG_ENST00000394378.2_Silent_p.I1032I|SYNRG_ENST00000346661.4_Silent_p.I1110I|SYNRG_ENST00000502449.2_Silent_p.I987I	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1110					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACTTGTCTCGGATGACGGGCA	0.527000													63	89					0	0	1	0	0
OR6C70	390327	broad.mit.edu	37	12	55863874	55863874	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55863874C>T	ENST00000327335.4	-	1	48	c.49G>A	c.(49-51)Gat>Aat	p.D17N	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_001005499.1	NP_001005499.1	A6NIJ9	O6C70_HUMAN	olfactory receptor, family 6, subfamily C, member 70	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						TGAGAATTATCCGTCAGTCCC	0.353000													7	47					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923695	24923695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24923695G>A	ENST00000329468.2	+	1	3155	c.2681G>A	c.(2680-2682)gGa>gAa	p.G894E		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TTAAATACAGGATCCATCTCT	0.507000													94	90					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157528064	157528064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:157528064C>T	ENST00000346085.5	+	20	5790	c.5789C>T	c.(5788-5790)cCt>cTt	p.P1930L	ARID1B_ENST00000367148.1_Missense_Mutation_p.P1970L|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1912L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1917L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1917					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GACGAGACTCCTCTGTGTACC	0.547000													34	43					0	0	1	0	0
ENKUR	219670	broad.mit.edu	37	10	25279499	25279499	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:25279499C>T	ENST00000331161.4	-	4	706	c.487G>A	c.(487-489)Gag>Aag	p.E163K	ENKUR_ENST00000376363.1_Missense_Mutation_p.E163K	NM_145010.3	NP_659447.1	Q8TC29	ENKUR_HUMAN	enkurin, TRPC channel interacting protein	163						cilium|flagellum	calmodulin binding|SH3 domain binding			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						TTTATTTCCTCGTTTCGCTTA	0.363000													14	61					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100890913	100890913	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:100890913G>A	ENST00000343933.5	-	9	1313	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P	CORO2A_ENST00000375077.4_Silent_p.P352P	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	352					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TCATGGAGATGGGCTCGATGA	0.597000													16	4					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242065957	242065957	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:242065957G>A	ENST00000403638.3	-	10	2464	c.2373C>T	c.(2371-2373)gtC>gtT	p.V791V	PASK_ENST00000544142.1_Silent_p.V605V|PASK_ENST00000405260.1_Silent_p.V791V|PASK_ENST00000539818.1_Silent_p.V575V|PASK_ENST00000234040.4_Silent_p.V791V|PASK_ENST00000358649.4_Silent_p.V791V	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	791					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		TGTCATCCAGGACACACGACC	0.567000													13	41					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685623	108685623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:108685623G>A	ENST00000312143.7	-	3	1480	c.1117C>T	c.(1117-1119)Ctt>Ttt	p.L373F	CMKLR1_ENST00000552995.1_Missense_Mutation_p.L371F|CMKLR1_ENST00000412676.1_Missense_Mutation_p.L373F|CMKLR1_ENST00000397688.2_Missense_Mutation_p.L371F|CMKLR1_ENST00000550402.1_Missense_Mutation_p.L373F	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	373					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GAGGATCAAAGCATGCCGGTC	0.478000													33	95					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815199	43815199	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43815199G>A	ENST00000382031.1	+	5	2273	c.2242G>A	c.(2242-2244)Gga>Aga	p.G748R	MAP1A_ENST00000399453.1_Missense_Mutation_p.G510R|MAP1A_ENST00000300231.5_Missense_Mutation_p.G510R			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	510						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCCCAGAAGGGAACTGTACC	0.567000													17	85					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421907	124421907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124421907G>A	ENST00000545135.1	-	3	3939	c.643C>T	c.(643-645)Ctt>Ttt	p.L215F	CCDC92_ENST00000545891.1_Missense_Mutation_p.L215F|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000238156.3_Missense_Mutation_p.L232F			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	232										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		TCCCGCAAAAGGAGTTTCCTG	0.592000													21	52					0	0	1	0	0
TREML3P	340206	broad.mit.edu	37	6	41185624	41185624	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:41185624G>A	ENST00000564680.1	-	0	61																											CTGACACCAGGATTTGGGCTG	0.517000													7	44					0	0	1	0	0
DNAJB7	150353	broad.mit.edu	37	22	41257813	41257813	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:41257813C>T	ENST00000307221.4	-	1	317	c.186G>A	c.(184-186)cgG>cgA	p.R62R	XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	62	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CATAAATGTCCCGTTTCTCAT	0.378000													39	127					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806845	2806845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2806845C>T	ENST00000520002.1	-	69	10936	c.10381G>A	c.(10381-10383)Gga>Aga	p.G3461R	CSMD1_ENST00000400186.3_Missense_Mutation_p.G3284R|CSMD1_ENST00000602557.1_Missense_Mutation_p.G3461R|CSMD1_ENST00000537824.1_Missense_Mutation_p.G3460R|CSMD1_ENST00000542608.1_Missense_Mutation_p.G3283R|CSMD1_ENST00000602723.1_Missense_Mutation_p.G3284R			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3461						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTAAATTTTCCAAAGTCTTTT	0.333000													6	38					0	0	1	0	0
LELP1	149018	broad.mit.edu	37	1	153177331	153177331	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153177331G>A	ENST00000368747.1	+	2	258	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_001010857.1	NP_001010857.1	Q5T871	LELP1_HUMAN	late cornified envelope-like proline-rich 1	50	Cys/Pro-rich.									NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGCCCATGGGAAAAGTGTCC	0.562000													36	69					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36899454	36899454	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36899454G>A	ENST00000429976.2	-	12	1874	c.1627C>T	c.(1627-1629)Cag>Tag	p.Q543*	TRANK1_ENST00000301807.6_5'UTR|TRANK1_ENST00000428977.2_5'UTR			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	543					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGCTGTCCTGGACATTGGGG	0.483000													14	37					0	0	1	0	0
SLC17A1	6568	broad.mit.edu	37	6	25799137	25799137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:25799137G>A	ENST00000244527.4	-	12	1395	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	SLC17A1_ENST00000427328.1_Missense_Mutation_p.S373F|SLC17A1_ENST00000468082.1_Missense_Mutation_p.S373F|SLC17A1_ENST00000476801.1_Missense_Mutation_p.S427F	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	427					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAACCAGGCGGATTCCGGATC	0.328000													5	45					0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11716606	11716606	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:11716606C>T	ENST00000381486.2	+	5	882	c.582C>T	c.(580-582)gtC>gtT	p.V194V	GREB1_ENST00000389825.3_Silent_p.V84V|GREB1_ENST00000234142.5_Silent_p.V194V|GREB1_ENST00000381483.2_Silent_p.V194V|GREB1_ENST00000263834.5_Silent_p.V194V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	194						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ATTACCTGGTCCGTAATGCAC	0.473000													46	129					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142717442	142717442	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:142717442C>T	ENST00000381779.4	-	2	1708	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G495R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G495R	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	495						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGGTGCTCCGGAAAAGATG	0.433000													66	37					0	0	1	0	0
LHFPL5	222662	broad.mit.edu	37	6	35773576	35773576	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35773576C>T	ENST00000360215.1	+	1	506	c.129C>T	c.(127-129)ctC>ctT	p.L43L	LHFPL5_ENST00000373853.1_Silent_p.L43L	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	43						integral to membrane		p.L43L(1)		endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TCATGGCCCTCTTCATCCAGC	0.592000													41	138					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46495814	46495814	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46495814G>A	ENST00000231751.4	-	6	979	c.684C>T	c.(682-684)atC>atT	p.I228I	LTF_ENST00000417439.1_Silent_p.I228I|LTF_ENST00000426532.2_Silent_p.I184I	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	228	Transferrin-like 1.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGCTCTCTCTGATAAAAGCCA	0.512000													44	159					0	0	1	0	0
CHIT1	1118	broad.mit.edu	37	1	203186055	203186055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:203186055C>T	ENST00000367229.1	-	11	1397	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	CHIT1_ENST00000535569.1_Missense_Mutation_p.V446M|CHIT1_ENST00000484834.1_Intron|CHIT1_ENST00000255427.3_Missense_Mutation_p.V436M	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	455	Chitin-binding type-2.				chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTGCTGAACACCAGGCCTGTC	0.602000											OREG0014113	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	133					0	0	1	0	0
TMEM45B	120224	broad.mit.edu	37	11	129727269	129727269	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:129727269A>G	ENST00000281441.3	+	5	720	c.632A>G	c.(631-633)aAc>aGc	p.N211S	TMEM45B_ENST00000524567.1_Missense_Mutation_p.N211S	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	211						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		GATGATGCCAACCTCATGTTC	0.498000													36	9					0	0	1	0	0
EPHX2	2053	broad.mit.edu	37	8	27396183	27396183	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:27396183T>C	ENST00000521400.1	+	14	1680	c.1250T>C	c.(1249-1251)tTa>tCa	p.L417S	EPHX2_ENST00000521780.1_Missense_Mutation_p.L351S|EPHX2_ENST00000518379.1_Missense_Mutation_p.L385S|EPHX2_ENST00000380476.3_Missense_Mutation_p.L364S|EPHX2_ENST00000517536.1_Missense_Mutation_p.L234S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	417	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CAGAGTGTTTTATCCATGCAT	0.403000													12	28					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136523445	136523445	+	Nonsense_Mutation	SNP	G	G	A	rs77724989		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:136523445G>A	ENST00000393056.2	+	12	1742	c.1730G>A	c.(1729-1731)tGg>tAg	p.W577*		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	577					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CAGGGTGAATGGAACCTGCAG	0.637000													17	43					0	0	1	0	0
INTS6	26512	broad.mit.edu	37	13	51943425	51943425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:51943425G>A	ENST00000311234.4	-	16	2598	c.2126C>T	c.(2125-2127)tCg>tTg	p.S709L	INTS6_ENST00000425000.1_Missense_Mutation_p.S277L|INTS6_ENST00000497989.1_Missense_Mutation_p.S531L|INTS6_ENST00000398119.2_Missense_Mutation_p.S696L|INTS6_ENST00000463928.1_3'UTR|INTS6_ENST00000490542.1_Missense_Mutation_p.S393L	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	709					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		ATGTATTATCGAATCATTAGT	0.353000													11	34					0	0	1	0	0
MTIF2	4528	broad.mit.edu	37	2	55489532	55489532	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:55489532G>T	ENST00000394600.3	-	6	987	c.251C>A	c.(250-252)tCa>tAa	p.S84*	MTIF2_ENST00000263629.4_Nonsense_Mutation_p.S84*|MTIF2_ENST00000446660.1_5'UTR|MTIF2_ENST00000403721.1_Nonsense_Mutation_p.S84*	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	84					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						AGATTTTGTTGAAGATAACTG	0.318000													22	142					3.85864e-22	3.90724e-22	1	1	0
NUP160	23279	broad.mit.edu	37	11	47827779	47827779	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47827779C>T	ENST00000378460.2	-	20	2578	c.2532G>A	c.(2530-2532)aaG>aaA	p.K844K	NUP160_ENST00000528071.1_Silent_p.K730K|NUP160_ENST00000530326.1_Silent_p.K730K	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	844					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						TCAGAGGTGCCTTTGGCTGAG	0.368000													12	50					0	0	1	0	0
CDKAL1	54901	broad.mit.edu	37	6	20739777	20739777	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:20739777C>T	ENST00000274695.4	+	6	566	c.399C>T	c.(397-399)atC>atT	p.I133I	CDKAL1_ENST00000378624.4_Silent_p.I63I|CDKAL1_ENST00000378610.1_Silent_p.I133I	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	133	MTTase N-terminal.				RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			ACAAGAAAATCGTACTGGCTG	0.433000													85	190					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138579238	138579238	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138579238G>A	ENST00000440172.1	-	10	3930	c.3882C>T	c.(3880-3882)tcC>tcT	p.S1294S	KIAA1549_ENST00000422774.1_Silent_p.S1294S|KIAA1549_ENST00000242365.4_Silent_p.S1244S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1294						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGTTGCTCTGGGATTCCGGAG	0.502000			O	BRAF	pilocytic astrocytoma								18	47					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45267196	45267196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:45267196C>T	ENST00000303230.4	-	7	1835	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	593						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R593Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTACCTATTCGATCTAGTCG	0.413000													8	47					0	0	1	0	0
DUXA	503835	broad.mit.edu	37	19	57666741	57666741	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57666741C>T	ENST00000554048.2	-	5	438		c.e5-1			NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A							nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GGAACCAAATCTAAGTGGTAA	0.378000													8	31					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85406053	85406053	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:85406053C>T	ENST00000258888.5	+	10	5090	c.4923C>T	c.(4921-4923)ggC>ggT	p.G1641G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1641	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCGAGTCGGGCCGCACGTGCA	0.587000													29	19					0	0	1	0	0
MAP4K2	5871	broad.mit.edu	37	11	64563863	64563863	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64563863C>T	ENST00000294066.2	-	24	1725		c.e24-1		MAP4K2_ENST00000377350.3_Splice_Site	NM_004579.3	NP_004570.2	Q12851	M4K2_HUMAN	mitogen-activated protein kinase kinase kinase kinase 2						activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						GTGGATTTCCCTGCAGAAACA	0.642000													12	35					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238450	48238450	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48238450T>G	ENST00000309562.2	+	1	107	c.89T>G	c.(88-90)cTc>cGc	p.L30R		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GTGGTGTTTCTCCCCGTGTAC	0.502000													77	60					0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75398213	75398213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:75398213C>T	ENST00000329047.8	+	2	907	c.95C>T	c.(94-96)cCc>cTc	p.P32L	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000590294.1_Missense_Mutation_p.P32L|SEPT9_ENST00000591198.1_Missense_Mutation_p.P31L|SEPT9_ENST00000423034.2_Missense_Mutation_p.P43L|SEPT9_ENST00000427177.1_Missense_Mutation_p.P50L|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000592420.1_5'UTR	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	50					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GTCCAGACTCCCCTACTCCGA	0.567000													11	50					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958222	40958222	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:40958222G>A	ENST00000313164.9	+	11	1707	c.1348G>A	c.(1348-1350)Gat>Aat	p.D450N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	450	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGAGTATCTGGATGAATTTGA	0.443000													12	54					0	0	1	0	0
ZNF257	113835	broad.mit.edu	37	19	22255733	22255733	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22255733C>T	ENST00000594947.1	+	2	270	c.126C>T	c.(124-126)ttC>ttT	p.F42F	ZNF257_ENST00000600162.1_Silent_p.F42F	NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCTGGTCTTCCTGGGTGAGG	0.358000													26	76					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166963247	166963247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:166963247C>T	ENST00000061240.2	+	11	1977	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	TLL1_ENST00000507499.1_Missense_Mutation_p.R444C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	444	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R444C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATTGAGTTTCGTAGCAGCAG	0.368000													43	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179606592	179606592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179606592G>A	ENST00000589042.1	-	48	11592	c.11368C>T	c.(11368-11370)Caa>Taa	p.Q3790*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q3427*|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q3552*|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q3619*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q3473*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3473							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)			TTAGATAATTGAAGTTCGGCG	0.333000													5	4					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146807040	146807040	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:146807040C>T	ENST00000508784.1	-	4	1764	c.1537G>A	c.(1537-1539)Gga>Aga	p.G513R	ZNF827_ENST00000379448.4_Missense_Mutation_p.G513R|ZNF827_ENST00000513320.1_Missense_Mutation_p.G163R			Q17R98	ZN827_HUMAN	zinc finger protein 827	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCAGCCCCTCCCTGGCTAGTC	0.597000													18	86					0	0	1	0	0
PAOX	196743	broad.mit.edu	37	10	135195059	135195059	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135195059C>T	ENST00000278060.5	+	3	847	c.764C>T	c.(763-765)tCc>tTc	p.S255F	PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000480071.2_Missense_Mutation_p.S255F|PAOX_ENST00000357296.3_Missense_Mutation_p.S255F	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	393					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		TGGAACGGGTCCTTCCAGGAG	0.587000													13	37					0	0	1	0	0
LY6G5C	80741	broad.mit.edu	37	6	31647023	31647023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31647023C>T	ENST00000375858.3	-	2	143	c.135G>A	c.(133-135)tgG>tgA	p.W45*	LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_Nonsense_Mutation_p.W46*|LY6G5C_ENST00000383237.4_Nonsense_Mutation_p.W48*	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	48						extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GAGGGGGTTCCCAATTGACAG	0.537000													97	466					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56950085	56950085	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56950085C>T	ENST00000497933.1	+	1	865	c.718C>T	c.(718-720)Ccc>Tcc	p.P240S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	210	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CGGTGGCAATCCCTGGGTGTG	0.632000													43	66					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321341	56321341	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56321341G>A	ENST00000443188.1	-	5	1345	c.635C>T	c.(634-636)gCt>gTt	p.A212V	NLRP11_ENST00000589824.2_Missense_Mutation_p.A212V|NLRP11_ENST00000589093.1_Missense_Mutation_p.A212V|NLRP11_ENST00000360133.3_Missense_Mutation_p.A212V|NLRP11_ENST00000592953.1_Missense_Mutation_p.A113V	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	212	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCAATGGGAGCCTGGCCGTC	0.483000													31	45					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13721196	13721196	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13721196C>T	ENST00000265104.4	-	71	12296	c.12192G>A	c.(12190-12192)aaG>aaA	p.K4064K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4064	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)					TTTTTAATCTCTTCCCCAAGG	0.522000									Kartagener syndrome				23	92					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240071960	240071960	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:240071960G>A	ENST00000255380.4	+	5	1988	c.1209G>A	c.(1207-1209)agG>agA	p.R403R		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	403					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACTTGGAGAGGAAAGCCGACA	0.572000													9	12					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36758296	36758296	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36758296C>T	ENST00000354618.5	+	7	2240	c.2016C>T	c.(2014-2016)agC>agT	p.S672S	THRAP3_ENST00000466743.1_3'UTR|THRAP3_ENST00000469141.2_Silent_p.S672S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	672					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACAAGAAAAGCCCAGAGATAC	0.408000			T	USP6	aneurysmal bone cysts								29	45					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61048507	61048507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61048507G>A	ENST00000335613.5	-	8	1374	c.988C>T	c.(988-990)Cct>Tct	p.P330S		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	330						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGGCAGAAGGGGAGGATGTG	0.682000													8	9					0	0	1	0	0
NECAB1	64168	broad.mit.edu	37	8	91937813	91937813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:91937813G>A	ENST00000417640.2	+	7	882	c.545G>A	c.(544-546)cGa>cAa	p.R182Q		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	182					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CCTGGAAAACGATCAAGCCGC	0.463000													9	7					0	0	1	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940517	67940517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:67940517G>A	ENST00000357461.2	-	3	533	c.124C>T	c.(124-126)Cct>Tct	p.P42S	TMEM229B_ENST00000557006.1_Missense_Mutation_p.P42S	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	42						integral to membrane		p.P42S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGACCCCAGGGAACTTCCAG	0.632000													10	15					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100159976	100159976	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100159976G>A	ENST00000300176.4	+	7	1094	c.972G>A	c.(970-972)ggG>ggA	p.G324G	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	324					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGGGACCCGGGGTGCCCGCTG	0.672000													41	36					0	0	1	0	0
TAP2	6891	broad.mit.edu	37	6	32782883	32782883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32782883G>A	ENST00000452392.2	-	13	2293	c.2120C>T	c.(2119-2121)gCc>gTc	p.A707V	HLA-DOB_ENST00000438763.2_Missense_Mutation_p.A100V			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CCCATCCACGGCCTGTCTGCT	0.592000													40	39					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86115413	86115413	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86115413G>A	ENST00000418930.2	+	3	625	c.429G>A	c.(427-429)aaG>aaA	p.K143K	E2F5_ENST00000256117.5_Silent_p.K143K|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000416274.2_Silent_p.K143K			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	143	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						TAGAACTGAAGGAAAGAGAAC	0.333000													23	5					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46760421	46760421	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:46760421C>T	ENST00000262738.3	-	33	8766	c.8767G>A	c.(8767-8769)Gag>Aag	p.E2923K		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2923					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCCTCTGCTCTGGGGGCTGG	0.701000													13	30					0	0	1	0	0
SYT10	341359	broad.mit.edu	37	12	33592344	33592344	+	Silent	SNP	G	G	A	rs151171356		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:33592344G>A	ENST00000228567.3	-	1	410	c.114C>T	c.(112-114)ttC>ttT	p.F38F	SYT10_ENST00000535526.1_5'UTR	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	38						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.F38F(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)					TGTCCCGAGGGAAGATGCCCG	0.677000													63	75					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606755	21606755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:21606755C>T	ENST00000392288.2	+	4	1403	c.1294C>T	c.(1294-1296)Ccc>Tcc	p.P432S	ZNF493_ENST00000355504.4_Missense_Mutation_p.P304S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGGAGAGAAACCCTACAAATG	0.348000													10	7					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633270	32633270	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32633270G>A	ENST00000242310.4	-	1	2397	c.2308C>T	c.(2308-2310)Cca>Tca	p.P770S		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	770					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATACACTGGAGCACGAAAA	0.423000													16	24					0	0	1	0	0
LHX8	431707	broad.mit.edu	37	1	75622659	75622659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:75622659C>T	ENST00000294638.5	+	9	1556	c.892C>T	c.(892-894)Cca>Tca	p.P298S	LHX8_ENST00000356261.3_Missense_Mutation_p.P288S	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	298						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CACAGCAGTCCCACCCTCCAG	0.502000													45	180					0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48561233	48561233	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:48561233G>A	ENST00000232375.3	-	11	1235	c.1123C>T	c.(1123-1125)Cct>Tct	p.P375S	PFKFB4_ENST00000383734.2_Missense_Mutation_p.P340S|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_Missense_Mutation_p.P341S|PFKFB4_ENST00000536104.1_Missense_Mutation_p.P364S|PFKFB4_ENST00000416568.1_Missense_Mutation_p.P368S	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	375	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATGATGACAGGCTCCAGTCTC	0.617000													16	60					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114164666	114164666	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:114164666C>T	ENST00000434316.2	+	7	1511	c.1152C>T	c.(1150-1152)tcC>tcT	p.S384S	TMCO3_ENST00000375391.1_Silent_p.S384S|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	384						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TCTTCATTTCCACGTGTCTGT	0.537000													24	61					0	0	1	0	0
GAA	2548	broad.mit.edu	37	17	78082402	78082402	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:78082402C>T	ENST00000302262.3	+	7	1409	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	GAA_ENST00000390015.3_Missense_Mutation_p.P397L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	397					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCCACTTCCCCCTGGTGAGT	0.692000													13	36					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420684	11420684	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11420684G>A	ENST00000381842.3	-	0	536				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CCTCCTTGTGGGGGTGGTCCT	0.652000													71	173					0	0	1	0	0
CELF3	11189	broad.mit.edu	37	1	151688402	151688402	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151688402C>A	ENST00000290583.4	-	1	888	c.95G>T	c.(94-96)cGg>cTg	p.R32L	AL589765.1_ENST00000442233.2_Intron|CELF3_ENST00000290585.4_Missense_Mutation_p.R32L|RIIAD1_ENST00000326413.3_Intron	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	32	RRM 1.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						CTCAAAGATCCGACCAAACTG	0.592000													26	68					1.1804e-14	1.19151e-14	1	1	0
KIF2B	84643	broad.mit.edu	37	17	51900876	51900876	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51900876A>G	ENST00000268919.4	+	1	638	c.482A>G	c.(481-483)gAa>gGa	p.E161G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	161					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGCAGCGGGAAAAGCGCAGG	0.547000													41	75					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46043062	46043062	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46043062G>A	ENST00000295452.4	-	9	1508	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	447					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAGCGGTTGGGAAAAATATTC	0.368000													26	28					0	0	1	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661077	8661077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8661077C>T	ENST00000270328.4	-	10	1483	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.G406E			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	406	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACAGCTGTTTCCCACGCCGTC	0.637000													42	41					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32475771	32475771	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:32475771G>A	ENST00000404025.2	-	5	1650	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	NLRC4_ENST00000360906.5_Missense_Mutation_p.R388W|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R388W			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	388	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCCAGGCTCCGAATGAAGTCA	0.473000													18	76					0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5860070	5860070	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:5860070G>A	ENST00000546188.1	-	11	1184	c.1113C>T	c.(1111-1113)atC>atT	p.I371I	ANO2_ENST00000327087.8_Silent_p.I370I|ANO2_ENST00000356134.5_Silent_p.I371I			Q9NQ90	ANO2_HUMAN	anoctamin 2	375						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGAAGATGGGATGAGGAATG	0.338000													6	29					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262060	45262060	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:45262060G>T	ENST00000303230.4	-	8	2693	c.2636C>A	c.(2635-2637)cCa>cAa	p.P879Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	879						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTCTGCGTCTGGGTCTGTGTT	0.488000													92	49					6.00078e-37	6.08764e-37	1	1	0
TAF7L	54457	broad.mit.edu	37	X	100547832	100547832	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:100547832C>T	ENST00000372907.3	-	1	213	c.202G>A	c.(202-204)Gac>Aac	p.D68N	TAF7L_ENST00000372905.2_5'UTR	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	68					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GCGCTGCTGTCCGCATCCGTT	0.582000													38	35					0	0	1	0	0
SLC26A2	1836	broad.mit.edu	37	5	149357662	149357662	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149357662C>T	ENST00000286298.4	+	2	715	c.447C>T	c.(445-447)atC>atT	p.I149I		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	149						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGCCAGCATCATTTATTTTC	0.458000													58	25					0	0	1	0	0
NDST3	9348	broad.mit.edu	37	4	119035961	119035961	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119035961G>A	ENST00000296499.5	+	4	1473	c.1069_splice	c.e4-1	p.G357_splice	NDST3_ENST00000433996.2_Intron	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	357	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCCCCTAAAGGAACTGAAGAG	0.403000													9	46					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119726773	119726773	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:119726773C>T	ENST00000327097.4	+	2	270	c.135C>T	c.(133-135)tcC>tcT	p.S45S	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	45					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TGAACTTCTCCCTAGCTGTGG	0.577000													37	20					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804879	27804879	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:27804879C>T	ENST00000408964.2	+	1	5491	c.5440C>T	c.(5440-5442)Cgt>Tgt	p.R1814C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1814	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GGAGAGGAGCCGTCACAGTCT	0.532000													53	121					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17898368	17898368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17898368C>T	ENST00000448223.2	-	13	1437	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	SMC6_ENST00000381272.4_Missense_Mutation_p.E416K|SMC6_ENST00000402989.1_Missense_Mutation_p.E390K|SMC6_ENST00000351948.4_Missense_Mutation_p.E390K	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	390					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTTTCAGCTCTTCAATTCGT	0.294000													26	48					0	0	1	0	0
PHC1	1911	broad.mit.edu	37	12	9074316	9074316	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:9074316C>A	ENST00000433083.2	+	4	460	c.315C>A	c.(313-315)ctC>ctA	p.L105L	PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Silent_p.L142L|PHC1_ENST00000543824.1_Silent_p.L142L|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	142					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						CCCCACCCCTCAACCAGTCTC	0.577000													23	40					2.14196e-07	2.151e-07	1	1	0
MUC16	94025	broad.mit.edu	37	19	9062066	9062066	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062066G>A	ENST00000397910.4	-	3	25583	c.25380C>T	c.(25378-25380)tcC>tcT	p.S8460S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8462	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						GCCCTGACATGGATGTTCCCC	0.507000													36	97					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129861438	129861438	+	Silent	SNP	G	G	A	rs148187282		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129861438G>A	ENST00000254667.3	+	10	996	c.717G>A	c.(715-717)agG>agA	p.R239R	PTPRE_ENST00000419012.2_Silent_p.R239R|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.R181R	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	239	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGAAAGAAAGGAAAGAGGTGA	0.502000													12	23					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261738	21261738	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21261738C>T	ENST00000311620.5	+	2	924	c.851C>T	c.(850-852)cCt>cTt	p.P284L		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	284										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		ATATCGAGTCCTGAAGACATC	0.463000													16	34					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183713767	183713767	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:183713767A>G	ENST00000511685.1	+	26	6065	c.5942A>G	c.(5941-5943)aAc>aGc	p.N1981S	TENM3_ENST00000406950.2_Missense_Mutation_p.N1981S					teneurin transmembrane protein 3																		AAGACAGTAAACCTCCAGAGT	0.398000													119	192					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197082	26197082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26197082C>T	ENST00000377831.5	-	2	850	c.397G>A	c.(397-399)Ggg>Agg	p.G133R	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.G133R	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	133					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCCCTCTCCCCACGAATGCGG	0.498000													15	53					0	0	1	0	0
PCDHA12	56137	broad.mit.edu	37	5	140255890	140255890	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140255890C>T	ENST00000398631.2	+	1	833	c.833C>T	c.(832-834)tCc>tTc	p.S278F	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1												p.S278F(2)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAATTTCCTATGGGATC	0.368000													33	104					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181689961	181689961	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181689961C>T	ENST00000526775.1	+	15	2091	c.1926C>T	c.(1924-1926)acC>acT	p.T642T	CACNA1E_ENST00000367567.4_Silent_p.T249T|CACNA1E_ENST00000367570.1_Silent_p.T642T|CACNA1E_ENST00000367573.2_Silent_p.T642T|CACNA1E_ENST00000357570.5_Silent_p.T593T|CACNA1E_ENST00000360108.3_Silent_p.T642T|CACNA1E_ENST00000358338.5_Silent_p.T593T	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	642					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						ATTTTGATACCTTCCCTGCAG	0.428000													8	22					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55420731	55420731	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55420731C>T	ENST00000594765.1	+	4	508	c.483C>T	c.(481-483)tcC>tcT	p.S161S	NCR1_ENST00000338835.5_Silent_p.S161S|NCR1_ENST00000291890.4_Silent_p.S161S|NCR1_ENST00000598576.1_Silent_p.S149S|NCR1_ENST00000350790.5_Silent_p.S66S|NCR1_ENST00000447255.1_Silent_p.S161S|NCR1_ENST00000357397.5_Silent_p.S54S			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	161	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AGGGAAGATCCAGCCACGTAC	0.567000													40	33					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53159945	53159945	+	Silent	SNP	G	G	A	rs148510042		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:53159945G>A	ENST00000296292.3	-	2	190	c.129C>T	c.(127-129)atC>atT	p.I43I	RFT1_ENST00000394738.3_Silent_p.I43I	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	43					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity	p.I43I(1)		NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CTACGCCAACGATTTCCTTTG	0.408000													17	20					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7171258	7171258	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:7171258C>T	ENST00000217961.4	+	2	253	c.33C>T	c.(31-33)ctC>ctT	p.L11L		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	11					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TCCCTTTCCTCCTACTGTTCT	0.527000									Ichthyosis				11	10					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17780453	17780453	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17780453G>A	ENST00000428389.2	-	6	566	c.567C>T	c.(565-567)tcC>tcT	p.S189S	UNC13A_ENST00000252773.7_Silent_p.S101S|UNC13A_ENST00000551649.1_Silent_p.S101S|UNC13A_ENST00000550896.1_Silent_p.S101S|UNC13A_ENST00000552293.1_Silent_p.S101S|UNC13A_ENST00000519716.2_Silent_p.S101S			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	101					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGATGACCTGGGAGTCCAGCG	0.617000													7	16					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11047544	11047544	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:11047544C>T	ENST00000470054.1	-	0	710									B melanoma antigen family, member 2															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)		AAGTATGATACCCTTTGTCAC	0.333000													14	321					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49442531	49442531	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49442531G>T	ENST00000301067.7	-	13	4041	c.4042C>A	c.(4042-4044)Ccc>Acc	p.P1348T		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TCCTTACTGGGAGAGCTATCA	0.478000													44	120					1.02591e-13	1.03518e-13	1	1	0
KIF4A	24137	broad.mit.edu	37	X	69639986	69639986	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:69639986C>T	ENST00000374403.3	+	31	3652	c.3570C>T	c.(3568-3570)ctC>ctT	p.L1190L		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1190	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CTTTTGACCTCCCAGAGTTGA	0.507000													23	2					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411705	51411705	+	Missense_Mutation	SNP	C	C	T	rs5029501		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51411705C>T	ENST00000319760.6	-	1	743	c.691G>A	c.(691-693)Ggt>Agt	p.G231S		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				AAGGCTTTACCCCTCTTTTCC	0.413000													6	45					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10408246	10408246	+	Missense_Mutation	SNP	C	C	T	rs112853460		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10408246C>T	ENST00000226207.5	-	22	2666	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	858						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCAAATTCTTCCTTCATGTTG	0.423000													20	92					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54612430	54612430	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:54612430C>T	ENST00000302287.3	+	2	601	c.195C>T	c.(193-195)ttC>ttT	p.F65F	VSTM2A_ENST00000407838.3_Silent_p.F65F|VSTM2A_ENST00000402613.3_Silent_p.F65F|VSTM2A_ENST00000404951.1_Silent_p.F65F|VSTM2A_ENST00000402026.2_Silent_p.F64F			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	65	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AATGGTGGTTCCTGCGGGGGC	0.716000													12	36					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10480680	10480680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10480680G>A	ENST00000382483.3	-	2	255	c.32C>T	c.(31-33)cCg>cTg	p.P11L	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	11					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACGGTGGCTCGGGGCCTGGGC	0.642000													36	57					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489686	76489686	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:76489686A>G	ENST00000435974.2	+	3	492	c.474A>G	c.(472-474)aaA>aaG	p.K158K	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAGCAAAAAAAAGCCTATCCT	0.363000													58	51					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77247083	77247083	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:77247083T>C	ENST00000388914.3	-	22	3236	c.3084A>G	c.(3082-3084)tcA>tcG	p.S1028S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1028	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AACCTTCAACTGAACTAGTTA	0.383000													105	85					0	0	1	0	0
GGT3P	2679	broad.mit.edu	37	22	18775282	18775282	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18775282G>A	ENST00000412448.1	-	0	834																											GTTGTAGATGGTGAGGAAGAG	0.647000													15	160					0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33464654	33464654	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:33464654G>A	ENST00000442241.4	-	6	582	c.543C>T	c.(541-543)ctC>ctT	p.L181L	NLE1_ENST00000360831.5_Silent_p.L139L|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_Intron	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	181						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GGTCCCAGAGGAGAATCTGAA	0.587000													9	28					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108272529	108272529	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108272529C>T	ENST00000295746.8	-	19	2449	c.2373G>A	c.(2371-2373)caG>caA	p.Q791Q	KIAA1524_ENST00000491772.1_Silent_p.Q632Q	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	791						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTAGCTGATTCTGTACTTCTT	0.284000													5	14					0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	9	42368545	42368545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:42368545G>A	ENST00000377601.2	+	1	243	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2	44										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						GCTGTCAAAGGCGACGCCGCG	0.677000													21	48					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604187	140604187	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140604187C>T	ENST00000239449.4	+	1	1110	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	PCDHB14_ENST00000515856.2_Silent_p.I217I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		370	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTTTAGTATCCTAGACCAAG	0.413000													59	32					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23083400	23083400	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23083400G>A	ENST00000219689.7	-	15	2453	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	USP31_ENST00000567975.1_Silent_p.S111S	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	818	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCATCTCCACGGACTCAGAGA	0.577000													42	88					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246675	164246675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:164246675G>A	ENST00000296533.2	-	3	1466	c.935C>T	c.(934-936)tCc>tTc	p.S312F	NPY1R_ENST00000509586.1_Missense_Mutation_p.S69F	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	312					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GACACAAGTGGATATCATTGC	0.418000													42	54					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343979	248343979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248343979G>A	ENST00000359682.2	+	1	692	c.692G>A	c.(691-693)gGa>gAa	p.G231E		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGGATCTGGAGAGGGTCGT	0.453000													92	40					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34100795	34100795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:34100795G>A	ENST00000374181.3	-	1	648	c.479C>T	c.(478-480)tCg>tTg	p.S160L	GRM4_ENST00000374177.3_Intron|GRM4_ENST00000538487.1_Missense_Mutation_p.S160L	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	160					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GATGGAGACCGAGCTCCCTGA	0.617000													10	34					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132171144	132171144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:132171144G>A	ENST00000360971.2	+	3	348	c.328G>A	c.(328-330)Ggt>Agt	p.G110S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	110	SMB 1.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGTTGCAAAGGTCGCTGTTT	0.378000													20	18					0	0	1	0	0
PRSS37	136242	broad.mit.edu	37	7	141537046	141537046	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141537046G>A	ENST00000350549.3	-	4	804	c.433C>T	c.(433-435)Cga>Tga	p.R145*	PRSS37_ENST00000438520.1_Nonsense_Mutation_p.R145*	NM_001008270.2|NM_001171951.1	NP_001008271.2|NP_001165422.1	A4D1T9	PRS37_HUMAN	protease, serine, 37	145	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						TCAGGGTGTCGGCCTGAGGGA	0.468000													34	38					0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046310	69046310	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:69046310C>T	ENST00000295381.3	+	9	1475	c.1056C>T	c.(1054-1056)ctC>ctT	p.L352L	ARHGAP25_ENST00000409030.3_Silent_p.L345L|ARHGAP25_ENST00000479844.1_Silent_p.L46L|ARHGAP25_ENST00000409220.1_Silent_p.L346L|ARHGAP25_ENST00000467265.1_Silent_p.L313L|ARHGAP25_ENST00000409202.3_Silent_p.L353L|ARHGAP25_ENST00000497079.1_Silent_p.L346L	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	352	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						ATGAAGTCCTCTTCCCCAAGT	0.507000													53	293					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52475896	52475896	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52475896C>T	ENST00000231721.2	-	5	488	c.489G>A	c.(487-489)gtG>gtA	p.V163V		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	163	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GGCCACTTTCCACACTGCCAG	0.662000													4	4					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702577	27702577	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27702577C>T	ENST00000438700.3	-	1	720	c.603G>A	c.(601-603)agG>agA	p.R201R		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	201					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CGGTGCTCCTCCTGGAGGCGG	0.617000													69	64					0	0	1	0	0
RTP1	132112	broad.mit.edu	37	3	186917391	186917391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:186917391C>T	ENST00000312295.4	+	2	355	c.325C>T	c.(325-327)Ctc>Ttc	p.L109F	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	109					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGTCATCCTCTTCCACAT	0.662000													14	55					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500612	149500612	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149500612C>T	ENST00000378016.2	+	0	8013							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGCCTGCCCCTCTCTGAGT	0.667000													17	26					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371809	55371809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55371809C>T	ENST00000302231.4	-	1	65	c.41G>A	c.(40-42)gGa>gAa	p.G14E		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CTGTGTTAATCCTAACAGTAT	0.353000													18	37					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60886128	60886128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60886128G>A	ENST00000252999.3	-	74	10177	c.10111C>T	c.(10111-10113)Ctc>Ttc	p.L3371F		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3371	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTCGCGGGAGGACGTGCATG	0.682000													13	45					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80782952	80782952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:80782952G>A	ENST00000466387.1	+	16	2399	c.1675G>A	c.(1675-1677)Gag>Aag	p.E559K	CTNNA2_ENST00000540488.1_Missense_Mutation_p.E559K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.E593K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.E559K|CTNNA2_ENST00000496558.1_Missense_Mutation_p.E559K|CTNNA2_ENST00000343114.3_Missense_Mutation_p.E238K|CTNNA2_ENST00000402739.4_Missense_Mutation_p.E559K			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	559					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TGCTGAGATGGAGAACTATGA	0.507000													45	24					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119474246	119474246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:119474246C>T	ENST00000369429.3	-	2	424	c.415G>A	c.(415-417)Ggc>Agc	p.G139S	TBX15_ENST00000207157.3_Missense_Mutation_p.G33S			Q96SF7	TBX15_HUMAN	T-box 15	139						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CCTTACCTGCCTGCTTTGGTG	0.433000													28	24					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374308	163374308	+	Missense_Mutation	SNP	G	G	A	rs139430414		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163374308G>A	ENST00000332142.5	-	4	923	c.824C>T	c.(823-825)tCg>tTg	p.S275L	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S275L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	275					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATCATGGACCGAAGATGCTCT	0.453000													13	29					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117248299	117248299	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117248299C>A	ENST00000332958.2	+	17	2011	c.1995C>A	c.(1993-1995)ccC>ccA	p.P665P		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	665					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGGGAGGCCCCCAAGTGTGG	0.522000													28	41					1.75199e-13	1.7675e-13	1	1	0
RALGDS	5900	broad.mit.edu	37	9	135977931	135977931	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:135977931G>A	ENST00000393160.3	-	14	2129	c.1776C>T	c.(1774-1776)ccC>ccT	p.P592P	RALGDS_ENST00000372047.3_Silent_p.P635P|RALGDS_ENST00000393157.3_Silent_p.P646P|RALGDS_ENST00000372050.3_Silent_p.P647P|RALGDS_ENST00000372062.3_Silent_p.P618P|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000542690.1_Silent_p.P718P	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	647	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCGGATGGGGGCTCCAGCT	0.632000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								14	44					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93606229	93606229	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:93606229T>C	ENST00000375754.4	+	2	197	c.49T>C	c.(49-51)Ttc>Ctc	p.F17L	SYK_ENST00000375751.4_Missense_Mutation_p.F17L|SYK_ENST00000375746.1_Missense_Mutation_p.F17L|SYK_ENST00000375747.1_Missense_Mutation_p.F17L|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	17	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						GCCCTTCTTTTTCGGCAACAT	0.627000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								9	0					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324048	31324048	+	Silent	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:31324048C>G	ENST00000269197.5	+	12	4236	c.4236C>G	c.(4234-4236)acC>acG	p.T1412T		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CACACCCGACCGTCGCAATGT	0.488000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	28	88					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54208088	54208088	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54208088G>A	ENST00000259782.4	+	5	785	c.689G>A	c.(688-690)tGg>tAg	p.W230*		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	230					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGCCTGGATGGACTCATGGC	0.378000													34	14					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57005247	57005247	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57005247C>T	ENST00000200676.3	+	7	742	c.612C>T	c.(610-612)atC>atT	p.I204I	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.I204I|CETP_ENST00000566128.1_Silent_p.I139I	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	204					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GCAAAGAGATCAACGTCATCT	0.562000													115	13					0	0	1	0	0
IL12RB2	3595	broad.mit.edu	37	1	67816686	67816686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:67816686G>A	ENST00000262345.1	+	9	1812	c.1172G>A	c.(1171-1173)gGa>gAa	p.G391E	IL12RB2_ENST00000544434.1_Missense_Mutation_p.G391E|IL12RB2_ENST00000541374.1_Missense_Mutation_p.G391E|IL12RB2_ENST00000371000.1_Missense_Mutation_p.G391E	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	391	Fibronectin type-III 3.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CCTAGAACCGGAAATTGGGCT	0.488000													28	5					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82785355	82785355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82785355C>T	ENST00000423517.2	-	2	939	c.602G>A	c.(601-603)gGa>gAa	p.G201E	PCLO_ENST00000333891.8_Missense_Mutation_p.G201E	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	201	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G201V(3)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCAGGTTTTCCTTGCTCCTT	0.448000													22	24					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103908	168103908	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168103908G>A	ENST00000409195.1	+	9	6095	c.6006G>A	c.(6004-6006)ggG>ggA	p.G2002G	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.G1780G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G2002G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1827					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						AAACTATGGGGAAATCTTGCC	0.448000													16	37					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20081556	20081556	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:20081556C>T	ENST00000379651.3	-	3	366	c.348G>A	c.(346-348)agG>agA	p.R116R	MAP7D2_ENST00000452324.3_Silent_p.R72R|MAP7D2_ENST00000443379.3_Silent_p.R116R|MAP7D2_ENST00000379643.5_Silent_p.R116R	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	116										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GCTTCTGTTTCCTTTTCTCTT	0.607000													6	18					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34077984	34077984	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34077984C>T	ENST00000389232.4	+	66	9460	c.9390C>T	c.(9388-9390)gtC>gtT	p.V3130V	RYR3_ENST00000415757.3_Silent_p.V3130V	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3130					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGCCCCATGTCATCGAGGTGA	0.587000													52	135					0	0	1	0	0
C22orf31	25770	broad.mit.edu	37	22	29454859	29454859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:29454859C>T	ENST00000216071.4	-	3	795	c.744G>A	c.(742-744)tgG>tgA	p.W248*		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	248										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						AAAGAGCCTCCCAGAGCTTTT	0.582000													25	68					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921673	247921673	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247921673G>A	ENST00000408896.2	-	1	309	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CCAGAAGGACGAATTCCCTGA	0.408000													18	15					0	0	1	0	0
DUOX1	53905	broad.mit.edu	37	15	45439720	45439720	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45439720G>A	ENST00000321429.4	+	20	2819	c.2412G>A	c.(2410-2412)agG>agA	p.R804R	DUOX1_ENST00000389037.3_Silent_p.R804R|DUOX1_ENST00000561166.1_Silent_p.R450R	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	804					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		AGCTGAGCAGGGCCGAGTTTG	0.627000													13	19					0	0	1	0	0
MYH8	4626	broad.mit.edu	37	17	10315753	10315753	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10315753C>T	ENST00000403437.2	-	14	1444	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	450	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTGGTGTCCAGCTGCTGGT	0.488000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				63	156					0	0	1	0	0
OR52B2	255725	broad.mit.edu	37	11	6191490	6191490	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6191490C>T	ENST00000530810.1	-	1	148	c.67G>A	c.(67-69)Gag>Aag	p.E23K	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATAAGCCTCCAACCCAGGG	0.443000													21	38					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121758211	121758211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:121758211G>A	ENST00000261819.3	-	12	1613	c.1492C>T	c.(1492-1494)Ccg>Tcg	p.P498S	ANAPC5_ENST00000535482.1_Missense_Mutation_p.P164S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.P386S|ANAPC5_ENST00000344395.4_Missense_Mutation_p.P386S|ANAPC5_ENST00000541887.1_Missense_Mutation_p.P485S|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	498					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTATTAGGCGGAAATCGTTCC	0.373000													57	226					0	0	1	0	0
CYP3A43	64816	broad.mit.edu	37	7	99445221	99445221	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99445221G>A	ENST00000354829.2	+	5	532	c.429G>A	c.(427-429)aaG>aaA	p.K143K	CYP3A43_ENST00000417625.1_Intron|CYP3A43_ENST00000342499.4_5'UTR|CYP3A43_ENST00000312017.5_Silent_p.K143K|CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000222382.5_Silent_p.K143K	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	143			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	TAAAATTCAAGGAAGTAAGAA	0.353000													51	65					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167921597	167921597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:167921597C>T	ENST00000357154.3	-	5	399	c.262G>A	c.(262-264)Gat>Aat	p.D88N	SPOCK3_ENST00000502330.1_Missense_Mutation_p.D88N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D85N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D88N|SPOCK3_ENST00000512648.1_Missense_Mutation_p.D85N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D85N|SPOCK3_ENST00000541354.1_Intron|SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D37N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D85N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D88N|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D85N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	88					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AAGCATGGATCCTTAGCTGGA	0.368000													47	28					0	0	1	0	0
PNPLA5	150379	broad.mit.edu	37	22	44285212	44285212	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:44285212G>A	ENST00000216177.4	-	4	831	c.699C>T	c.(697-699)ctC>ctT	p.L233L	PNPLA5_ENST00000593866.1_Silent_p.L119L|PNPLA5_ENST00000597664.1_Silent_p.L233L|PNPLA5_ENST00000381198.2_Silent_p.L119L	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	233					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				GACCTACCTCGAGGCTGGGGG	0.582000													29	50					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36133961	36133961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:36133961C>T	ENST00000258840.6	-	27	4228	c.3838G>A	c.(3838-3840)Gaa>Aaa	p.E1280K	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.E1233K|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.E1246K|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.E1233K			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1233					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACTTGTGCTTCTACTCTTGGT	0.348000													10	27					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137696875	137696875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137696875G>A	ENST00000371817.3	+	40	3583	c.3169G>A	c.(3169-3171)Ggt>Agt	p.G1057S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1057	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGATTACGTGGTTTCCCTGG	0.622000													25	1					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70895992	70895992	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:70895992G>A	ENST00000393567.2	-	69	11886	c.11736C>T	c.(11734-11736)tcC>tcT	p.S3912S		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3912										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGTCCAACGGGGAGAATTTTA	0.537000													8	3					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38884131	38884131	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:38884131G>A	ENST00000274276.3	+	5	1023	c.621G>A	c.(619-621)agG>agA	p.R207R	OSMR_ENST00000502536.1_Silent_p.R207R	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	207					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTTTCATTAGGAATAAAGGGA	0.368000													57	24					0	0	1	0	0
VPS8	23355	broad.mit.edu	37	3	184542543	184542543	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184542543G>T	ENST00000287546.4	+	2	294	c.123G>T	c.(121-123)atG>atT	p.M41I	VPS8_ENST00000436792.2_Missense_Mutation_p.M41I|VPS8_ENST00000437079.3_Missense_Mutation_p.M41I|VPS8_ENST00000446204.2_Missense_Mutation_p.M41I|VPS8_ENST00000424463.2_Missense_Mutation_p.M41I	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	41							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ACATAGATATGGACAAGGAAC	0.368000													22	6					2.89027e-11	2.91211e-11	1	1	0
DHX30	22907	broad.mit.edu	37	3	47887899	47887899	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47887899C>T	ENST00000446256.2	+	12	1792	c.1220C>T	c.(1219-1221)gCc>gTc	p.A407V	DHX30_ENST00000348968.4_Missense_Mutation_p.A418V|DHX30_ENST00000457607.1_Missense_Mutation_p.A474V|DHX30_ENST00000445061.1_Missense_Mutation_p.A446V	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	446						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCCTCAACGCCATTGAGCAG	0.662000													38	56					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489663	233489663	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233489663C>T	ENST00000366624.3	+	3	1358	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	MLK4_ENST00000366623.3_Missense_Mutation_p.P366L	NM_032435.2	NP_115811.2																					TTGCCCATTCCATCCACCTGC	0.502000													28	76					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923640	24923640	+	Missense_Mutation	SNP	C	C	T	rs146008809		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24923640C>T	ENST00000329468.2	+	1	3100	c.2626C>T	c.(2626-2628)Cct>Tct	p.P876S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1									p.P876S(1)									CACCAGTTTTCCTGCACAGGC	0.507000													57	61					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26176129	26176129	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26176129C>T	ENST00000335473.7	+	9	2425	c.2175C>T	c.(2173-2175)ttC>ttT	p.F725F	MYO18B_ENST00000407587.2_Silent_p.F725F|MYO18B_ENST00000536101.1_Silent_p.F725F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	725	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CGCTGGACTTCAACGCTACAG	0.642000													10	3					0	0	1	0	0
OR56B1	387748	broad.mit.edu	37	11	5757749	5757749	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5757749G>A	ENST00000317121.3	+	1	69	c.3G>A	c.(1-3)atG>atA	p.M1I	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTTGAATCATGAATCATATGT	0.388000													16	61					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74270111	74270111	+	Missense_Mutation	SNP	C	C	T	rs80008208		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:74270111C>T	ENST00000295897.4	+	1	156	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	ALB_ENST00000509063.1_Missense_Mutation_p.R23C|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.R23C|ALB_ENST00000415165.2_Missense_Mutation_p.R23C	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	23	Albumin 1.		R -> C (in Redhill/Malmo-I/Tradate; associated with T-344 in Redhill).|R -> H (in Fukuoka-2/Lille/Taipei/Varese/ Komagome-3).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGGTGTGTTTCGTCGAGATGC	0.368000													55	42					0	0	1	0	0
TRIM22	10346	broad.mit.edu	37	11	5730836	5730836	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5730836G>A	ENST00000379965.3	+	8	1732	c.1455G>A	c.(1453-1455)tgG>tgA	p.W485*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	485	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCAATCCTTGGAACTGCCTAG	0.478000													28	151					0	0	1	0	0
BARX2	8538	broad.mit.edu	37	11	129306719	129306719	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:129306719C>T	ENST00000281437.4	+	2	357	c.261C>T	c.(259-261)gtC>gtT	p.V87V	BARX2_ENST00000526127.1_5'UTR	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	87										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		CCCACCTGGTCCCTGCCACCC	0.677000													26	67					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469863	10469863	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10469863G>A	ENST00000382483.3	-	4	1968	c.1745C>T	c.(1744-1746)tCa>tTa	p.S582L		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	582					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTTAAAGATGAAAGACTCAG	0.662000													21	135					0	0	1	0	0
INADL	10207	broad.mit.edu	37	1	62586944	62586944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:62586944C>T	ENST00000371158.2	+	38	5096	c.4982C>T	c.(4981-4983)tCa>tTa	p.S1661L	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1661					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AAAAGAGTTTCAGATCCTTCC	0.423000													25	27					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85781645	85781645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:85781645C>T	ENST00000322366.6	-	4	507	c.100G>A	c.(100-102)Gag>Aag	p.E34K	WDFY3_ENST00000295888.4_Missense_Mutation_p.E34K			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	34						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGGCACAACTCCGTGAAGAGC	0.552000													37	81					0	0	1	0	0
SEMA6B	10501	broad.mit.edu	37	19	4548095	4548095	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:4548095G>A	ENST00000586582.1	-	14	1855	c.1545C>T	c.(1543-1545)ccC>ccT	p.P515P	SEMA6B_ENST00000301293.3_Silent_p.P515P|SEMA6B_ENST00000586965.1_Silent_p.P515P	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	515	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGCAGCGGGGGAAGGCAG	0.697000													8	8					0	0	1	0	0
ATP6V0C	527	broad.mit.edu	37	16	2569620	2569620	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2569620G>A	ENST00000330398.4	+	3	576	c.342G>A	c.(340-342)ggG>ggA	p.G114G	ATP6V0C_ENST00000565223.1_Silent_p.G71G|ATP6V0C_ENST00000564973.1_Silent_p.G71G|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000568562.1_3'UTR	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	114					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCATCGTGGGGGACGCTGGCG	0.682000													22	14					0	0	1	0	0
FAIM3	9214	broad.mit.edu	37	1	207087140	207087140	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:207087140C>T	ENST00000367091.3	-	2	480	c.337G>A	c.(337-339)Gga>Aga	p.G113R	FAIM3_ENST00000420007.2_Missense_Mutation_p.G113R|FAIM3_ENST00000442471.2_Intron|FAIM3_ENST00000528654.1_Intron	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	113					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					TGGGTCTTTCCCCGGTCTGTG	0.522000													18	89					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118267050	118267050	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:118267050C>T	ENST00000252108.3	+	20	3227	c.3096C>T	c.(3094-3096)aaC>aaT	p.N1032N	UBE4A_ENST00000545354.1_Silent_p.N504N|UBE4A_ENST00000431736.2_Silent_p.N1039N	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	1032	U-box.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ATCCCTTTAACCGTAGTCCCC	0.448000													15	24					0	0	1	0	0
CTSH	1512	broad.mit.edu	37	15	79227365	79227365	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:79227365C>A	ENST00000220166.5	-	5	469	c.360G>T	c.(358-360)gtG>gtT	p.V120V	CTSH_ENST00000534533.1_5'UTR	NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H	120					protein destabilization|proteolysis	lysosome	cysteine-type endopeptidase activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						TCCGCCAGTCCACGGAAGGTG	0.453000													32	50					3.03874e-20	3.07417e-20	1	1	0
AUTS2	26053	broad.mit.edu	37	7	70231204	70231204	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:70231204C>T	ENST00000342771.4	+	9	1894	c.1573C>T	c.(1573-1575)Cat>Tat	p.H525Y	AUTS2_ENST00000406775.2_Missense_Mutation_p.H525Y	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	525	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GACCGAGTTCCATcagcacca	0.637000													10	64					0	0	1	0	0
IFNA16	3449	broad.mit.edu	37	9	21217127	21217127	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:21217127C>T	ENST00000380216.1	-	1	183	c.178G>A	c.(178-180)Gga>Aga	p.G60R		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	60					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		TGGGGGAATCCGAAATCATAT	0.507000													26	52					0	0	1	0	0
B4GALNT4	338707	broad.mit.edu	37	11	379694	379694	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:379694C>T	ENST00000329962.6	+	15	2481	c.2481C>T	c.(2479-2481)atC>atT	p.I827I		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	827						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TTCACTTCATCGTGCCAGGTT	0.687000													4	17					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96354749	96354749	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:96354749G>A	ENST00000324765.8	+	20	2651	c.2304G>A	c.(2302-2304)aaG>aaA	p.K768K	DIAPH2_ENST00000373061.3_Silent_p.K768K|DIAPH2_ENST00000355827.4_Silent_p.K768K|DIAPH2_ENST00000373049.4_Silent_p.K768K|DIAPH2_ENST00000373054.4_Silent_p.K764K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	768	FH2.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CAGAGCTTAAGAATGAATATG	0.378000													9	1					0	0	1	0	0
ITM2C	81618	broad.mit.edu	37	2	231741646	231741646	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:231741646C>T	ENST00000326427.6	+	4	651	c.525C>T	c.(523-525)ccC>ccT	p.P175P	ITM2C_ENST00000492029.1_3'UTR|ITM2C_ENST00000409704.2_Silent_p.P113P|ITM2C_ENST00000335005.6_Silent_p.P128P|ITM2C_ENST00000326407.6_Intron	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	175	BRICHOS.				negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		TTGTGCTGCCCCCTCGCAACT	0.582000													22	65					0	0	1	0	0
SRGAP3	9901	broad.mit.edu	37	3	9074426	9074426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:9074426G>A	ENST00000383836.3	-	12	1874	c.1447C>T	c.(1447-1449)Ctt>Ttt	p.L483F	SRGAP3_ENST00000360413.3_Intron|SRGAP3_ENST00000433332.3_5'UTR	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	483	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTAGGGGGAAGACAGGGGGGC	0.443000			T	RAF1	pilocytic astrocytoma								42	20					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52470034	52470034	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52470034A>G	ENST00000231721.2	-	16	1933	c.1934T>C	c.(1933-1935)cTt>cCt	p.L645P		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	645	Ig-like C2-type.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GAAACGGCTAAGCCTGCGGAA	0.642000													31	20					0	0	1	0	0
LUC7L	55692	broad.mit.edu	37	16	249084	249084	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:249084G>A	ENST00000337351.4	-	6	787	c.664C>T	c.(664-666)Cga>Tga	p.R222*	LUC7L_ENST00000397783.1_Nonsense_Mutation_p.R222*|LUC7L_ENST00000293872.8_Nonsense_Mutation_p.R222*|LUC7L_ENST00000397780.1_Nonsense_Mutation_p.R169*	NM_018032.3	NP_060502.1	Q9NQ29	LUC7L_HUMAN	LUC7-like (S. cerevisiae)	222							metal ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	11		all_cancers(16;1.1e-06)|all_epithelial(16;2.71e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.0138)|all_lung(18;0.0306)				AGCTTCTCTCGGATCTGAATG	0.458000													32	82					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159154118	159154118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:159154118C>T	ENST00000514558.1	+	6	2275	c.479C>T	c.(478-480)cCa>cTa	p.P160L	TMEM144_ENST00000296529.6_Missense_Mutation_p.P160L			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	160						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GATACCACTCCATTAATAACA	0.269000													6	36					0	0	1	0	0
ZBTB7C	201501	broad.mit.edu	37	18	45566546	45566546	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:45566546C>T	ENST00000588982.1	-	3	1434	c.933G>A	c.(931-933)aaG>aaA	p.K311K	ZBTB7C_ENST00000590800.1_Silent_p.K311K|ZBTB7C_ENST00000586438.1_Silent_p.K311K|ZBTB7C_ENST00000332053.2_Silent_p.K311K|ZBTB7C_ENST00000535628.2_Silent_p.K311K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	311	Pro-rich.					intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GGAACATGTCCTTGAAGAAGT	0.602000													13	30					0	0	1	0	0
MCHR2	84539	broad.mit.edu	37	6	100395841	100395841	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:100395841C>T	ENST00000281806.2	-	3	503	c.189G>A	c.(187-189)agG>agA	p.R63R	MCHR2_ENST00000369212.1_Silent_p.R63R|MCHR2_ENST00000445970.1_Silent_p.R63R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	63			R -> K (no changes in receptor binding or functional signaling).			integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGTTTTTTTCCTGGATCTGA	0.403000													6	19					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	121126206	121126206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121126206G>A	ENST00000273666.6	+	24	3047	c.2776G>A	c.(2776-2778)Gaa>Aaa	p.E926K	STXBP5L_ENST00000492541.1_Missense_Mutation_p.E926K|STXBP5L_ENST00000497029.1_Missense_Mutation_p.E900K|STXBP5L_ENST00000471454.1_Missense_Mutation_p.E902K|STXBP5L_ENST00000472879.1_Missense_Mutation_p.E902K	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	926					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGATGAAAATGAAAAATCTTG	0.398000													14	35					0	0	1	0	0
HLA-G	3135	broad.mit.edu	37	6	29796516	29796516	+	Silent	SNP	G	G	A	rs113386443		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29796516G>A	ENST00000428701.1	+	4	718	c.540G>A	c.(538-540)agG>agA	p.R180R	HLA-G_ENST00000360323.6_Silent_p.R180R|HLA-G_ENST00000376818.3_Intron|HLA-G_ENST00000376828.2_Silent_p.R185R|HLA-G_ENST00000376815.3_Intron	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	180	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTGAACAAAGGAGAGCCTACC	0.652000													55	40					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47423852	47423852	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:47423852C>T	ENST00000361866.3	+	35	3126	c.3012C>T	c.(3010-3012)ttC>ttT	p.F1004F	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	1004	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	GCCACCTGTTCCGTGTCCCCA	0.677000													20	75					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46628211	46628211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:46628211G>A	ENST00000470495.1	-	2	2228	c.781C>T	c.(781-783)Cca>Tca	p.P261S	HOXB-AS1_ENST00000508688.1_RNA|HOXB3_ENST00000311626.4_Missense_Mutation_p.P261S|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000472863.1_Missense_Mutation_p.P188S|HOXB3_ENST00000489475.1_Missense_Mutation_p.P188S|HOXB3_ENST00000485909.2_Missense_Mutation_p.P129S|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.P261S|HOXB3_ENST00000490677.1_Missense_Mutation_p.P127S|HOXB3_ENST00000476342.1_Missense_Mutation_p.P261S|HOXB3_ENST00000460160.1_Missense_Mutation_p.P129S			P14651	HXB3_HUMAN	homeobox B3	261					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						CTGCCGGCTGGAGATGGGCCC	0.647000											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	112					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12649246	12649246	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12649246G>A	ENST00000425538.1	+	9	1182	c.982G>A	c.(982-984)Gaa>Aaa	p.E328K	MYOCD_ENST00000343344.4_Missense_Mutation_p.E328K|MYOCD_ENST00000395988.1_Missense_Mutation_p.E232K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	328					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GGAACCAAATGAACAGATGGT	0.408000													41	69					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126371903	126371903	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126371903C>T	ENST00000394329.3	+	9	9745	c.9732C>T	c.(9730-9732)gaC>gaT	p.D3244D	FAT4_ENST00000335110.5_Silent_p.D1542D	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3244	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTGTCATTGACCCTAACACAG	0.438000													37	37					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171386	214171386	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:214171386C>T	ENST00000366958.4	+	2	2116	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	PROX1_ENST00000261454.4_Missense_Mutation_p.S503F|PROX1_ENST00000435016.1_Missense_Mutation_p.S503F|PROX1_ENST00000498508.2_Missense_Mutation_p.S503F	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	503					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCCTCCGGCTCCTTCTCTGGA	0.562000													52	77					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476488	120476488	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:120476488G>A	ENST00000355622.6	+	3	2183	c.2082G>A	c.(2080-2082)aaG>aaA	p.K694K	TLR4_ENST00000394487.4_Silent_p.K654K|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	694	TIR.		K -> R (in dbSNP:rs5030722).		activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AGCTAGTAAAGAATTTAGAAG	0.453000													48	6					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453973	53453973	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53453973C>T	ENST00000357666.4	-	5	1355	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	ZNF816_ENST00000444460.2_Missense_Mutation_p.R352Q|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R352Q(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						GGCTGAATTTCGACCAAAAGT	0.423000													31	90					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216226319	216226319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:216226319G>A	ENST00000354785.4	-	46	7762	c.7393C>T	c.(7393-7395)Cct>Tct	p.P2465S	FN1_ENST00000443816.1_Missense_Mutation_p.P2253S|FN1_ENST00000432072.2_Missense_Mutation_p.P2255S|FN1_ENST00000421182.1_Missense_Mutation_p.P2228S|FN1_ENST00000359671.1_Missense_Mutation_p.P2374S|FN1_ENST00000357867.4_Missense_Mutation_p.P2164S|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.P2284S|FN1_ENST00000345488.5_Missense_Mutation_p.P2172S|FN1_ENST00000336916.4_Missense_Mutation_p.P2343S|FN1_ENST00000323926.6_Missense_Mutation_p.P2434S|FN1_ENST00000346544.3_Missense_Mutation_p.P2199S|FN1_ENST00000446046.1_Missense_Mutation_p.P2318S			P02751	FINC_HUMAN	fibronectin 1	2374					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACATCTAAAGGCATGAAGCAC	0.383000													36	82					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23865993	23865993	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23865993C>T	ENST00000405093.3	-	19	2272	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E	MYH6_ENST00000356287.3_Silent_p.E734E	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	734	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGAACTGTCCCTCAGGGATGG	0.537000													12	46					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114117600	114117600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:114117600C>T	ENST00000357077.4	+	3	316	c.263C>T	c.(262-264)tCc>tTc	p.S88F	ANK2_ENST00000394537.3_Missense_Mutation_p.S88F|ANK2_ENST00000264366.6_Missense_Mutation_p.S88F|ANK2_ENST00000506722.1_Missense_Mutation_p.S67F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	88					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GGAAGAGGGTCCTCTGTGGAT	0.423000													11	59					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190984	42190984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42190984C>T	ENST00000006724.3	-	2	434	c.233G>A	c.(232-234)cGa>cAa	p.R78Q	CEACAM7_ENST00000602225.1_Missense_Mutation_p.R78Q|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000338196.4_Missense_Mutation_p.R78Q|CEACAM7_ENST00000401731.1_Missense_Mutation_p.R78Q	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	78	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane		p.R78Q(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCCTATAATTCGATAGTTGGC	0.463000													45	156					0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329765	8329765	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:8329765A>G	ENST00000359286.4	+	5	578	c.489A>G	c.(487-489)aaA>aaG	p.K163K		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	163					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AACCACATAAACAAATTCATA	0.378000													35	145					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123970430	123970430	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123970430C>T	ENST00000369005.1	+	9	6830	c.6490C>T	c.(6490-6492)Ccc>Tcc	p.P2164S	TACC2_ENST00000513429.1_Missense_Mutation_p.P310S|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.P242S|TACC2_ENST00000453444.2_Missense_Mutation_p.P2168S|TACC2_ENST00000368999.1_Missense_Mutation_p.P242S|TACC2_ENST00000358010.1_Missense_Mutation_p.P310S|TACC2_ENST00000334433.3_Missense_Mutation_p.P2164S|TACC2_ENST00000515603.1_Missense_Mutation_p.P2119S|TACC2_ENST00000369004.3_Missense_Mutation_p.P242S|TACC2_ENST00000515273.1_Missense_Mutation_p.P2168S|TACC2_ENST00000360561.3_Missense_Mutation_p.P242S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2164						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAGCCTTGTCCCCAGTGGGGA	0.557000													35	87					0	0	1	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568267	7568267	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:7568267C>T	ENST00000340209.4	+	2	458	c.161C>T	c.(160-162)gCg>gTg	p.A54V	RBFOX1_ENST00000535565.2_Missense_Mutation_p.A85V|RBFOX1_ENST00000422070.4_Missense_Mutation_p.A92V|RBFOX1_ENST00000311745.5_Missense_Mutation_p.A69V|RBFOX1_ENST00000355637.4_Missense_Mutation_p.A69V|RBFOX1_ENST00000550418.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000436368.2_Missense_Mutation_p.A69V|RBFOX1_ENST00000547338.1_Missense_Mutation_p.A49V|RBFOX1_ENST00000552089.1_Missense_Mutation_p.A85V|RBFOX1_ENST00000547372.1_Missense_Mutation_p.A92V|RBFOX1_ENST00000553186.1_Missense_Mutation_p.A49V			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	49					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCACCCCGCGCCAGAGTAC	0.657000													35	92					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179594165	179594165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179594165G>A	ENST00000589042.1	-	64	18942	c.18718C>T	c.(18718-18720)Cga>Tga	p.R6240*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R4996*|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R5923*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5923	Ig-like 43.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTGCTTCGAATTTCCCTG	0.453000													20	53					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231812	21231812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21231812G>A	ENST00000233242.1	-	26	8055	c.7928C>T	c.(7927-7929)tCc>tTc	p.S2643F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2643					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GGAAAACCTGGATGGGATTTT	0.358000													124	589					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76956394	76956394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:76956394G>A	ENST00000315938.4	-	11	1268	c.1018C>T	c.(1018-1020)Cct>Tct	p.P340S	GDPD4_ENST00000376217.2_Missense_Mutation_p.P340S	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	340	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TGTCTGAGAGGATGTTTTGGT	0.393000													16	73					0	0	1	0	0
SERPINE3	647174	broad.mit.edu	37	13	51921322	51921322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:51921322C>T	ENST00000524365.1	+	6	1277	c.652C>T	c.(652-654)Ctc>Ttc	p.L218F	SERPINE3_ENST00000400389.4_Missense_Mutation_p.L218F|SERPINE3_ENST00000521255.1_Missense_Mutation_p.L218F			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	218					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						TGCCTATGGCCTCGTCCTTCA	0.557000													8	18					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131339676	131339676	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:131339676C>T	ENST00000358161.5	+	8	1089	c.976C>T	c.(976-978)Cct>Tct	p.P326S	SPTAN1_ENST00000372731.4_Missense_Mutation_p.P326S|SPTAN1_ENST00000372739.3_Missense_Mutation_p.P326S			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	326					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						ACAGTCCCACCCTCTGAGTGC	0.512000													48	7					0	0	1	0	0
AC112229.4	0	broad.mit.edu	37	2	111144837	111144837	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:111144837G>A	ENST00000606848.1	-	0	903																											AGTGCAGGAAGAGGCCACGGG	0.587000													5	8					0	0	1	0	0
ALOX15	246	broad.mit.edu	37	17	4544964	4544964	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:4544964C>T	ENST00000545513.1	-	2	79	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	ALOX15_ENST00000570836.1_5'UTR|ALOX15_ENST00000574640.1_5'UTR			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	404	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AAAGATGTTTCGCTCCTTCTG	0.612000													8	32					0	0	1	0	0
EFTUD1	79631	broad.mit.edu	37	15	82520636	82520636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:82520636G>A	ENST00000268206.7	-	10	1133	c.965C>T	c.(964-966)tCt>tTt	p.S322F	EFTUD1_ENST00000561331.1_5'UTR|EFTUD1_ENST00000359445.3_Missense_Mutation_p.S271F	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	322					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						TAATCCTAAAGAAGTCACTAT	0.433000													8	28					0	0	1	0	0
OAS1	4938	broad.mit.edu	37	12	113344996	113344996	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113344996A>G	ENST00000452357.2	+	1	342	c.152A>G	c.(151-153)tAc>tGc	p.Y51C	OAS1_ENST00000551241.1_Missense_Mutation_p.Y51C|OAS1_ENST00000202917.5_Missense_Mutation_p.Y51C|OAS1_ENST00000445409.2_Missense_Mutation_p.Y51C|OAS1_ENST00000553185.1_Missense_Mutation_p.Y51C	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	51					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGTAGCTCCTACCCTGTGTGT	0.527000													39	52					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197032154	197032154	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:197032154C>T	ENST00000367412.1	-	2	141	c.98G>A	c.(97-99)gGa>gAa	p.G33E		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	33	Sushi 1.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						GGCAATTCTTCCATTTTCCAC	0.318000													126	90					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43539310	43539310	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43539310C>T	ENST00000400427.1	+	14	3129	c.2733C>T	c.(2731-2733)atC>atT	p.I911I	UMODL1_ENST00000408989.2_Silent_p.I983I|UMODL1_ENST00000400424.1_Silent_p.I783I|UMODL1_ENST00000408910.2_Silent_p.I855I	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	855	EGF-like 3; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACGGCAGCATCGTGGTGGAGT	0.597000													66	199					0	0	1	0	0
PPFIBP1	8496	broad.mit.edu	37	12	27799045	27799045	+	Translation_Start_Site	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:27799045A>T	ENST00000537927.1	+	0	323				PPFIBP1_ENST00000228425.6_Silent_p.A107A|PPFIBP1_ENST00000542629.1_Silent_p.A107A|PPFIBP1_ENST00000535047.1_Silent_p.A107A|PPFIBP1_ENST00000318304.8_Silent_p.A107A	NM_001198915.1	NP_001185844.1	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)						cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					AAAGGCTGGCACGTTTAGAAA	0.383000													6	10					0	0	1	0	0
OR2T8	343172	broad.mit.edu	37	1	248084478	248084478	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248084478C>T	ENST00000319968.4	+	1	159	c.159C>T	c.(157-159)ctC>ctT	p.L53L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCACCGGCTCCACACGCCCA	0.532000													41	92					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171056792	171056792	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:171056792G>A	ENST00000334231.6	+	3	346	c.346G>A	c.(346-348)Gag>Aag	p.E116K	MYO3B_ENST00000408978.4_Missense_Mutation_p.E107K|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.E107K			Q8WXR4	MYO3B_HUMAN	myosin IIIB	107	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCTGGTCCTGGAGGTAAGAGG	0.453000													10	31					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17682946	17682946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:17682946G>A	ENST00000375448.4	+	13	1576	c.1550G>A	c.(1549-1551)gGg>gAg	p.G517E		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	517					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGTTCGAAGGGATCAAGAGT	0.602000													8	6					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18027809	18027809	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18027809C>T	ENST00000205890.5	+	3	3960	c.3622C>T	c.(3622-3624)Cgc>Tgc	p.R1208C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1208	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCACTCCATCCGCAACCTGCC	0.637000													16	29					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136667103	136667103	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:136667103G>A	ENST00000354570.3	-	17	2540	c.2130C>T	c.(2128-2130)acC>acT	p.T710T	MAP7_ENST00000438100.2_Silent_p.T695T|MAP7_ENST00000544465.1_Silent_p.T695T|MAP7_ENST00000432797.2_Silent_p.T564T|MAP7_ENST00000454590.1_Silent_p.T732T	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	710					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTCACTGTTGGTGACATCTA	0.398000													10	15					0	0	1	0	0
CLPS	1208	broad.mit.edu	37	6	35764997	35764997	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35764997C>T	ENST00000259938.2	-	1	91	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_001832.3	NP_001823.1	P04118	COL_HUMAN	colipase, pancreatic	23					lipid catabolic process|lipid digestion|retinoid metabolic process|steroid metabolic process	extracellular region				large_intestine(2)|lung(2)|prostate(1)	5						TGATAATGATCCCCCGGGGGC	0.592000													11	95					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142479926	142479926	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142479926G>A	ENST00000603901.1	+	0	58					NR_001296.3																						CCCCTTTGATGATGATGACAA	0.547000													24	35					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124329690	124329690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124329690C>T	ENST00000368909.3	+	3	210	c.104C>T	c.(103-105)cCc>cTc	p.P35L	DMBT1_ENST00000368956.2_Missense_Mutation_p.P35L|DMBT1_ENST00000330163.4_Missense_Mutation_p.P35L|DMBT1_ENST00000338354.3_Missense_Mutation_p.P35L|DMBT1_ENST00000344338.3_Missense_Mutation_p.P35L|DMBT1_ENST00000368955.3_Missense_Mutation_p.P35L|DMBT1_ENST00000359586.6_Missense_Mutation_p.P35L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	35					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCACTGATTCCCTCGGAGGTG	0.552000													18	79					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24922658	24922658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24922658G>A	ENST00000329468.2	+	1	2118	c.1644G>A	c.(1642-1644)atG>atA	p.M548I		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GCAAGCCTATGAATTCCACGT	0.493000													56	122					0	0	1	0	0
NSUN4	387338	broad.mit.edu	37	1	46810768	46810768	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:46810768G>T	ENST00000474844.1	+	2	1039	c.389G>T	c.(388-390)cGa>cTa	p.R130L	NSUN4_ENST00000536062.1_Missense_Mutation_p.R81L|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Missense_Mutation_p.R81L	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	130							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CCGAACCTTCGATGCTTCACT	0.567000													34	0					3.03874e-20	3.07417e-20	1	1	0
RP1	6101	broad.mit.edu	37	8	55539695	55539695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55539695G>A	ENST00000220676.1	+	4	3401	c.3253G>A	c.(3253-3255)Gtc>Atc	p.V1085I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1085					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTCTTACCAGTCCTGATGCT	0.428000													16	29					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725443	87725443	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:87725443G>T	ENST00000305344.4	+	2	1094	c.391G>T	c.(391-393)Gcc>Tcc	p.A131S	HTR1E_ENST00000369584.1_Missense_Mutation_p.A131S	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	131					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TATTGAATACGCCAGGAAGAG	0.572000													30	26					7.26314e-15	7.33289e-15	1	1	0
TTN	7273	broad.mit.edu	37	2	179587617	179587617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179587617C>T	ENST00000589042.1	-	76	22233	c.22009G>A	c.(22009-22011)Gga>Aga	p.G7337R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G6093R|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.G7020R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7020	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCGAATCTCCAACTGCTGCC	0.423000													4	15					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5073878	5073878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5073878C>T	ENST00000574788.1	+	36	5852	c.3622C>T	c.(3622-3624)Cgg>Tgg	p.R1208W	USP6_ENST00000304328.5_Missense_Mutation_p.R891W|USP6_ENST00000250066.6_Missense_Mutation_p.R1208W|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1208					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGAGGCTCCGGCTGCCCCA	0.527000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								38	12					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173355752	173355752	+	Splice_Site	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:173355752G>C	ENST00000375221.2	+	22	3000	c.2796_splice	c.e22-1	p.E933_splice	AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000343713.4_Splice_Site_p.E889_splice|ITGA6_ENST00000264107.7_Splice_Site_p.E894_splice|ITGA6_ENST00000264106.6_Splice_Site_p.E933_splice|ITGA6_ENST00000409532.1_Splice_Site_p.E775_splice|ITGA6_ENST00000409080.1_Splice_Site_p.E894_splice			P23229	ITA6_HUMAN	integrin, alpha 6	933					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTTTTTTCAGGAGTCTCACAA	0.328000													68	43					0	0	1	0	0
SYT15	83849	broad.mit.edu	37	10	46967529	46967529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:46967529G>A	ENST00000374323.3	-	3	1294	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SYT15_ENST00000503753.1_Missense_Mutation_p.P183L|SYT15_ENST00000374321.4_Missense_Mutation_p.P183L|SYT15_ENST00000374325.3_Missense_Mutation_p.P183L			Q9BQS2	SYT15_HUMAN	synaptotagmin XV	183	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CTTCACCAGGGGGCTGCAGGT	0.597000													10	59					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741318	140741318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140741318C>T	ENST00000522605.1	+	1	1616	c.1616C>T	c.(1615-1617)tCg>tTg	p.S539L	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCAGGGCTCGCCCGCGCTC	0.697000													37	18					0	0	1	0	0
CST9	128822	broad.mit.edu	37	20	23584153	23584153	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23584153C>T	ENST00000376971.3	-	2	485	c.474G>A	c.(472-474)ggG>ggA	p.G158G		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	158						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					GGGCTCACTTCCCTTTGTCCC	0.602000													19	16					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119952058	119952058	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119952058C>G	ENST00000307142.4	+	4	2324	c.2128C>G	c.(2128-2130)Ctc>Gtc	p.L710V	SYNPO2_ENST00000434046.2_Missense_Mutation_p.L710V|SYNPO2_ENST00000429713.2_Missense_Mutation_p.L710V|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	710						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AAATCCTGAACTCTTGTCACT	0.493000													22	36					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296403	145296403	+	Silent	SNP	C	C	T	rs4996269	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:145296403C>T	ENST00000342960.5	+	3	360	c.325C>T	c.(325-327)Cta>Tta	p.L109L	NBPF10_ENST00000369339.2_Intron|NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	109										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)		GCTGACCCAGCTAAGGGAGAA	0.517000													7	431					0	0	1	0	0
FOXK2	3607	broad.mit.edu	37	17	80521235	80521235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:80521235C>T	ENST00000335255.5	+	2	599	c.425C>T	c.(424-426)aCa>aTa	p.T142I		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	142					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TCCAGGTGCACATTCAGGTTC	0.557000													5	23					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484094	43484094	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:43484094C>T	ENST00000395891.1	+	11	1928	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	HECW1_ENST00000453890.1_Silent_p.L441L	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	441					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CTGGGGAGCTCCTGGCCCAGG	0.617000													34	12					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7251241	7251241	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7251241G>A	ENST00000158762.3	+	15	1550	c.1343_splice	c.e15-1	p.R448_splice		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	448	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGCCCTCCAGGAGCCTTGGTG	0.602000													22	80					0	0	1	0	0
FAM71F2	346653	broad.mit.edu	37	7	128317745	128317745	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:128317745C>T	ENST00000480462.1	+	3	599	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Nonsense_Mutation_p.Q156*			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	165										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GATTGTGTTTCAATTCTGGGT	0.502000													21	31					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65824369	65824369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65824369C>T	ENST00000528302.1	+	5	613	c.559C>T	c.(559-561)Cct>Tct	p.P187S	SF3B2_ENST00000322535.6_Missense_Mutation_p.P204S			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	204					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CACCCCAGTCCCTCGGCCCCC	0.592000													13	46					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994664	160994664	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:160994664C>T	ENST00000283249.2	-	9	1391	c.1154G>A	c.(1153-1155)gGa>gAa	p.G385E	ITGB6_ENST00000409872.1_Missense_Mutation_p.G385E|ITGB6_ENST00000428609.2_Missense_Mutation_p.G343E|ITGB6_ENST00000409967.2_Missense_Mutation_p.G385E			P18564	ITB6_HUMAN	integrin, beta 6	385					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CAAGTTGAGTCCTTCAGTGTC	0.433000													26	66					0	0	1	0	0
FGF11	2256	broad.mit.edu	37	17	7346000	7346000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7346000C>T	ENST00000575331.1	+	3	2268	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_Missense_Mutation_p.R42C|FGF11_ENST00000293829.4_Missense_Mutation_p.R166C|FGF11_ENST00000575398.1_Missense_Mutation_p.R42C|FGF11_ENST00000575082.1_Missense_Mutation_p.R42C|FGF11_ENST00000572907.1_Missense_Mutation_p.R42C|RP11-104H15.8_ENST00000576615.1_RNA			Q92914	FGF11_HUMAN	fibroblast growth factor 11	166					cell-cell signaling|nervous system development|signal transduction		growth factor activity			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				CCGCCAGCGTCGTTCTGGCCG	0.552000													69	307					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49427207	49427207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49427207G>A	ENST00000301067.7	-	39	11280	c.11281C>T	c.(11281-11283)Cct>Tct	p.P3761S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGTACTCCAGGACCCTGCTGC	0.612000													3	9					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137255924	137255924	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:137255924A>G	ENST00000453654.1	-	19	1583	c.1044T>C	c.(1042-1044)tcT>tcC	p.S348S	DGKI_ENST00000424189.2_Silent_p.S648S|DGKI_ENST00000288490.5_Silent_p.S648S|DGKI_ENST00000446122.1_Silent_p.S648S			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	648					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGCTCACCAAAGAGGCCATGG	0.378000													23	15					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615326	179615326	+	Missense_Mutation	SNP	G	G	A	rs142848087		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179615326G>A	ENST00000360870.5	-	46	12023	c.11801C>T	c.(11800-11802)tCt>tTt	p.S3934F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9751							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)			TTTTCGAAAAGAATTTTCAAA	0.338000													9	19					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238672098	238672098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238672098C>T	ENST00000244815.5	+	10	1910	c.1670C>T	c.(1669-1671)tCc>tTc	p.S557F	LRRFIP1_ENST00000392000.4_Missense_Mutation_p.S581F|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.S525F|LRRFIP1_ENST00000308482.9_Intron	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	581	DNA-binding.				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		aagaaaaaATCCCCAGTACCC	0.378000													10	18					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18651287	18651287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18651287C>T	ENST00000308799.4	+	2	758	c.539C>T	c.(538-540)tCc>tTc	p.S180F	FBXW10_ENST00000301938.4_Missense_Mutation_p.S180F|FBXW10_ENST00000395667.1_Missense_Mutation_p.S180F|FBXW10_ENST00000395665.4_Missense_Mutation_p.S180F			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	180										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GTGTGTTTTTCCCCTGAGAAA	0.478000													38	14					0	0	1	0	0
WEE2	494551	broad.mit.edu	37	7	141429444	141429444	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141429444G>A	ENST00000397541.2	+	11	2055	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	550					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.G550E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CTGGTGGGAGGAAAGAGTGCA	0.547000													19	40					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871070	170871070	+	Silent	SNP	G	G	A	rs142508797	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:170871070G>A	ENST00000392092.2	+	3	525	c.246G>A	c.(244-246)caG>caA	p.Q82Q	TBP_ENST00000230354.6_Silent_p.Q82Q|TBP_ENST00000540980.1_Silent_p.Q62Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	82	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.587000													8	10					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52603882	52603882	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:52603882C>T	ENST00000395489.2	-	6	475	c.78_splice	c.e6-1	p.E27_splice	A1CF_ENST00000374001.1_Splice_Site_p.E34_splice|A1CF_ENST00000282641.2_Splice_Site_p.E34_splice|A1CF_ENST00000395495.1_Splice_Site_p.E34_splice|A1CF_ENST00000373997.3_Splice_Site_p.E34_splice|A1CF_ENST00000373993.1_Splice_Site_p.E34_splice|A1CF_ENST00000373995.3_Splice_Site_p.E42_splice	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	34					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.E42K(2)|p.E34K(2)		NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGTCCATTTTCCTGCAAATCC	0.413000													15	33					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115769380	115769380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:115769380C>T	ENST00000264363.2	-	9	2609	c.1931G>A	c.(1930-1932)gGa>gAa	p.G644E		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	644	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CCAGTCTATTCCTTTGTGATA	0.333000													16	56					0	0	1	0	0
ACO1	48	broad.mit.edu	37	9	32407274	32407274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32407274C>T	ENST00000379923.1	+	4	319	c.113C>T	c.(112-114)tCg>tTg	p.S38L	ACO1_ENST00000309951.5_Missense_Mutation_p.S38L|ACO1_ENST00000541043.1_5'UTR	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	38					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TTACCATTTTCGATCAGAGTT	0.383000													27	7					0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734009	16734009	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:16734009C>T	ENST00000297967.5	+	1	109	c.10C>T	c.(10-12)Ccc>Tcc	p.P4S	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	4					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CATGTTGCGTCCCCAGGGACT	0.488000													10	5					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415805	86415805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86415805G>A	ENST00000361669.2	+	3	1796	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	GRM3_ENST00000536043.1_Missense_Mutation_p.E105K|GRM3_ENST00000439827.1_Missense_Mutation_p.E233K|GRM3_ENST00000394720.2_Missense_Mutation_p.E231K|AC005009.2_ENST00000452471.1_RNA|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	233					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CTTCGAGCAGGAAGCCCGCCT	0.592000													20	58					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118351422	118351422	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:118351422C>T	ENST00000528052.1	+	3	260	c.189C>T	c.(187-189)aaC>aaT	p.N63N	PNLIPRP1_ENST00000442761.1_Silent_p.N63N|PNLIPRP1_ENST00000358834.4_Silent_p.N63N|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Silent_p.N63N			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	63					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		CCAATGAAAACCCAAACAACT	0.532000													18	88					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34150116	34150116	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34150116G>A	ENST00000389232.4	+	99	14212		c.e99+1		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CATGATGACGGTGAGAGCCCA	0.582000													7	23					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1317572	1317572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:1317572C>T	ENST00000381567.3	-	5	492	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	165	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGGTATTTTCCTGTTTGGAC	0.468000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								5	17					0	0	1	0	0
SPSB1	80176	broad.mit.edu	37	1	9416028	9416028	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:9416028C>T	ENST00000328089.6	+	2	419	c.78C>T	c.(76-78)ctC>ctT	p.L26L	SPSB1_ENST00000357898.3_Silent_p.L26L|SPSB1_ENST00000377399.2_Silent_p.L26L	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	26					intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		AGCAGGAGCTCCAGGGTCTGG	0.577000													31	52					0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62133120	62133120	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62133120G>A	ENST00000433197.2	-	13	1682	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1	529					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						AGGCCCTGGGGGACGTGCTGG	0.667000													11	18					0	0	1	0	0
FCGR2A	2212	broad.mit.edu	37	1	161476158	161476158	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161476158C>T	ENST00000271450.6	+	3	179	c.141C>T	c.(139-141)ccC>ccT	p.P47P	FCGR2A_ENST00000367972.4_Silent_p.P46P|FCGR2A_ENST00000467525.1_3'UTR	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	47	Ig-like C2-type 1.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AACTTGAGCCCCCGTGGATCA	0.572000													63	46					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201063033	201063033	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201063033C>T	ENST00000362061.3	-	3	601	c.375G>A	c.(373-375)ctG>ctA	p.L125L	CACNA1S_ENST00000367338.3_Silent_p.L125L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	125					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGGTGAAGTCCAGCACATTCC	0.557000													38	46					0	0	1	0	0
CECR2	27443	broad.mit.edu	37	22	17983972	17983972	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:17983972C>T	ENST00000262608.8	+	6	671	c.671C>T	c.(670-672)tCc>tTc	p.S224F	CECR2_ENST00000400573.4_Missense_Mutation_p.S243F|CECR2_ENST00000400585.2_Missense_Mutation_p.S102F|CECR2_ENST00000342247.5_Missense_Mutation_p.S223F	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	265					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGAGGACCTCCCTTCGAGAA	0.572000													30	55					0	0	1	0	0
NGEF	25791	broad.mit.edu	37	2	233839559	233839559	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:233839559C>T	ENST00000264051.3	-	2	320	c.42G>A	c.(40-42)agG>agA	p.R14R		NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	14	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TTGCTGATTTCCTCCGGGTCT	0.458000													25	59					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881455	228881455	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228881455C>T	ENST00000392056.3	-	7	4161	c.4115G>A	c.(4114-4116)aGg>aAg	p.R1372K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1372K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1372						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)		AGAGTCTTTCCTCGGGCAATC	0.478000													16	20					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36689657	36689657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:36689657G>A	ENST00000264659.7	-	19	3651	c.3427C>T	c.(3427-3429)Cca>Tca	p.P1143S	SRCIN1_ENST00000578925.1_Missense_Mutation_p.P1177S	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	1015					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCTTTAGATGGTTTAGTGGCC	0.542000													5	25					0	0	1	0	0
PRCP	5547	broad.mit.edu	37	11	82536019	82536019	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:82536019G>A	ENST00000313010.3	-	9	1614	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	PRCP_ENST00000393399.2_Missense_Mutation_p.R495C|PRCP_ENST00000535099.1_Missense_Mutation_p.R369C	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	474					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TCCAAGGAGCGGGCTAACAGC	0.458000													13	37					0	0	1	0	0
LYZL4	131375	broad.mit.edu	37	3	42445549	42445549	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:42445549C>T	ENST00000287748.3	-	4	635	c.360G>A	c.(358-360)ggG>ggA	p.G120G	LYZL4_ENST00000441172.1_Silent_p.G120G|LYZL4_ENST00000470991.1_5'UTR	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	120					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		ATGCTCCCATCCCTTCTTTTC	0.378000													12	24					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958161	21958161	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:21958161G>A	ENST00000289921.7	+	11	1444	c.1398G>A	c.(1396-1398)ggG>ggA	p.G466G		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	466										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CCCACGAGGGGATCATCCACA	0.622000													18	78					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74283258	74283258	+	Missense_Mutation	SNP	C	C	T	rs78575701		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:74283258C>T	ENST00000295897.4	+	11	1389	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	ALB_ENST00000505649.1_Intron|ALB_ENST00000509063.1_Missense_Mutation_p.R434C|ALB_ENST00000503124.1_Missense_Mutation_p.R284C|ALB_ENST00000401494.3_Missense_Mutation_p.R319C|ALB_ENST00000415165.2_Missense_Mutation_p.R242C	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	434	Albumin 3.		R -> C (in Liprizzi).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GCTATTAGTTCGTTACACCAA	0.403000													56	41					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39266535	39266535	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:39266535A>G	ENST00000280481.7	+	1	5270	c.5054A>G	c.(5053-5055)aAa>aGa	p.K1685R		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1685					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AAAATATTGAAAGTGGAGGAC	0.483000													18	46					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70916794	70916794	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:70916794G>A	ENST00000393567.2	-	60	10134	c.9984C>T	c.(9982-9984)ttC>ttT	p.F3328F		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3328										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCGGTCACGAAGGCTGGGG	0.507000													38	7					0	0	1	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161167843	161167843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161167843G>A	ENST00000367996.4	-	1	1003	c.575C>T	c.(574-576)cCc>cTc	p.P192L	ADAMTS4_ENST00000367995.3_Missense_Mutation_p.P192L	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	192					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GTTGCACATGGGACCTTGACC	0.647000													110	48					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50349313	50349313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50349313G>A	ENST00000199280.3	+	4	823	c.738G>A	c.(736-738)tgG>tgA	p.W246*	RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	246					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						ACACCGATTGGGAGGAGCGCG	0.692000													15	9					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433164	72433164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:72433164C>T	ENST00000373517.3	-	1	1520	c.1165G>A	c.(1165-1167)Gat>Aat	p.D389N	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D247N	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	389					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					AGTAAAAAATCATCATTTCCA	0.378000													14	11					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975447	20975447	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20975447G>A	ENST00000261383.3	-	53	9758	c.9759C>T	c.(9757-9759)atC>atT	p.I3253I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3253	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCCTCCAGGATGTTACCCT	0.433000													76	53					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74519807	74519807	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74519807C>T	ENST00000437994.2	+	27	3887	c.3456C>T	c.(3454-3456)caC>caT	p.H1152H	CD109_ENST00000287097.5_Silent_p.H1152H|CD109_ENST00000422508.2_Silent_p.H1075H	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1152						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTCTCACACTTCTTACAAT	0.478000													11	11					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506223	11506223	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11506223G>A	ENST00000500254.2	-	4	452	c.415C>T	c.(415-417)Caa>Taa	p.Q139*	PRB1_ENST00000546254.1_Nonsense_Mutation_p.Q139*|PRB1_ENST00000545626.1_Nonsense_Mutation_p.Q119*	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	333	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			CGGGCACTTTGGGACTTGCTG	0.592000													72	259					0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783293	115783293	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:115783293G>A	ENST00000343348.6	-	19	2896	c.2109C>T	c.(2107-2109)acC>acT	p.T703T	SEMA6A_ENST00000513137.1_Silent_p.T130T|SEMA6A_ENST00000510263.1_Silent_p.T703T|SEMA6A_ENST00000257414.8_Silent_p.T720T|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000503865.1_Silent_p.T82T|SEMA6A_ENST00000282394.6_Silent_p.T180T	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	703					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CGCTGAGCTTGGTGACGCTGC	0.622000													36	55					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213778	3213778	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3213778C>T	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							AAACCAAACTCCACAGCCCCA	0.532000													19	69					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158746549G>A	ENST00000339258.1	-	1	876	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418000													67	69					0	0	1	0	0
OR2L8	391190	broad.mit.edu	37	1	248112192	248112192	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248112192C>T	ENST00000357191.3	+	1	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CAACTGATTTCATCTTATTGG	0.378000													74	45					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35756611	35756611	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:35756611G>A	ENST00000400445.3	+	29	5311	c.4777G>A	c.(4777-4779)Gga>Aga	p.G1593R	NBEA_ENST00000379939.2_Missense_Mutation_p.G1590R|NBEA_ENST00000310336.4_Missense_Mutation_p.G1593R|NBEA_ENST00000540320.1_Missense_Mutation_p.G1593R	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1593						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TACAAGAACTGGAAGCCAACC	0.378000													19	24					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111556267	111556267	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:111556267C>T	ENST00000389811.4	+	6	650	c.426C>T	c.(424-426)gtC>gtT	p.V142V	ACOXL_ENST00000439055.1_Silent_p.V142V|ACOXL_ENST00000340561.4_Silent_p.V142V			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	142					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGCAGCTGTCTTTGCCCAGC	0.393000													29	19					0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55693471	55693471	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55693471G>A	ENST00000376350.3	-	19	3133	c.3111C>T	c.(3109-3111)ctC>ctT	p.L1037L	PTPRH_ENST00000263434.5_Silent_p.L859L	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1037	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCAGCTGCCGGAGCAGGACGT	0.617000													36	76					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3700795	3700795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:3700795G>A	ENST00000324932.7	-	31	5482	c.5062C>T	c.(5062-5064)Cat>Tat	p.H1688Y	NUP98_ENST00000359171.4_Missense_Mutation_p.H1614Y|NUP98_ENST00000355260.3_Missense_Mutation_p.H1614Y	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1705					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		TGCTGTATATGGCGGAGCATT	0.468000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								9	37					0	0	1	0	0
EHHADH	1962	broad.mit.edu	37	3	184910279	184910279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184910279C>T	ENST00000231887.3	-	7	1982	c.1907G>A	c.(1906-1908)gGa>gAa	p.G636E	EHHADH_ENST00000456310.1_Missense_Mutation_p.G540E	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	636						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TATCCCTTCTCCCAAGATACG	0.453000													17	74					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113073133	113073133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:113073133G>A	ENST00000316851.7	+	1	55	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	NCAM1_ENST00000401611.2_Missense_Mutation_p.G28R|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_5'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	29					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TCCCAGCCAGGGGGAGATCAG	0.408000													7	12					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71101172	71101172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:71101172G>A	ENST00000288168.10	-	15	2160	c.2147C>T	c.(2146-2148)tCt>tTt	p.S716F	HYDIN_ENST00000538248.1_Intron|HYDIN_ENST00000448691.1_Intron|HYDIN_ENST00000448089.2_Intron|HYDIN_ENST00000393550.2_Intron|HYDIN_ENST00000393567.2_Intron|HYDIN_ENST00000321489.5_Intron|HYDIN_ENST00000541601.1_Intron			Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	0										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)				CTCAGGAGAAGAGCAAGCTGG	0.592000													3	5					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004123	126004123	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:126004123G>A	ENST00000299308.3	+	4	1238	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	410						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TCGTCTCCGAGATCTTCGTCA	0.517000													21	87					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802934	170802934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:170802934C>T	ENST00000436636.2	-	25	3315	c.2971G>A	c.(2971-2973)Gaa>Aaa	p.E991K	TNIK_ENST00000357327.5_Missense_Mutation_p.E962K|TNIK_ENST00000460047.1_Missense_Mutation_p.E928K|TNIK_ENST00000369326.5_Missense_Mutation_p.E969K|TNIK_ENST00000341852.6_Missense_Mutation_p.E907K|TNIK_ENST00000488470.1_Missense_Mutation_p.E936K|TNIK_ENST00000284483.8_Missense_Mutation_p.E983K|TNIK_ENST00000470834.1_Missense_Mutation_p.E954K|TNIK_ENST00000475336.1_Missense_Mutation_p.E899K|TNIK_ENST00000538048.1_Missense_Mutation_p.E943K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	991	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TCATCCTCTTCATCTTCATCA	0.473000													3	16					0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17235193	17235193	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:17235193G>A	ENST00000261381.6	-	7	1488	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	468					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGCACTCCAGGAAGAGCCGAT	0.612000													15	29					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20248603	20248603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20248603G>A	ENST00000315957.4	+	1	203	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41A(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													108	192					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54214537	54214537	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54214537C>T	ENST00000259782.4	+	7	1019	c.923C>T	c.(922-924)cCa>cTa	p.P308L		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	308					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCATGCTACCCACTTTTCAAA	0.428000													30	142					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578750	179578750	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179578750T>C	ENST00000589042.1	-	92	26859	c.26635A>G	c.(26635-26637)Agc>Ggc	p.S8879G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S7635G|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8562G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8562	Ig-like 71.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGAAGAAGCTTATTTTGTAT	0.443000													9	18					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60485528	60485528	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:60485528C>T	ENST00000360469.5	+	9	1327	c.1239C>T	c.(1237-1239)ctC>ctT	p.L413L	CDH4_ENST00000543233.1_Silent_p.L339L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	413	Cadherin 3.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCGCAAACCTCACGGTGATGG	0.542000													12	56					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171503	39171503	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:39171503C>T	ENST00000297668.6	-	8	1269	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.R311Q|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.R399Q|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.R399Q|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.R399Q	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	399	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTTCCACGTTCGAAATTGAAA	0.502000													11	18					0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41133979	41133979	+	Missense_Mutation	SNP	G	G	A	rs149675484		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:41133979G>A	ENST00000379561.5	-	2	2033	c.1649C>T	c.(1648-1650)tCg>tTg	p.S550L		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	550					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	p.S550L(2)	PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GTTCATACCCGAGGTGTGGGG	0.612000													32	99					0	0	1	0	0
ATG7	10533	broad.mit.edu	37	3	11389371	11389371	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:11389371C>T	ENST00000354449.3	+	12	1171	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	ATG7_ENST00000446450.2_Silent_p.I343I|ATG7_ENST00000354956.5_Silent_p.I382I	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	382					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGAGACACATCACATTTGTGG	0.478000													11	46					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84510303	84510303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:84510303C>T	ENST00000360700.4	+	4	1004	c.118C>T	c.(118-120)Cat>Tat	p.H40Y	ZNF711_ENST00000395402.1_Missense_Mutation_p.H18Y|ZNF711_ENST00000276123.3_Missense_Mutation_p.H40Y|ZNF711_ENST00000373165.3_Missense_Mutation_p.H40Y			Q9Y462	ZN711_HUMAN	zinc finger protein 711	40					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CGATGGAGACCATATTGTTGT	0.368000													17	19					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91738999	91738999	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:91738999C>T	ENST00000389857.6	-	30	6143	c.6057G>A	c.(6055-6057)caG>caA	p.Q2019Q	CCDC88C_ENST00000331194.7_Silent_p.Q543Q	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	2019					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ACCACACGGTCTGCGGATCCC	0.632000													41	144					0	0	1	0	0
LMBR1L	55716	broad.mit.edu	37	12	49495066	49495066	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49495066G>A	ENST00000267102.8	-	13	1391	c.1049C>T	c.(1048-1050)tCc>tTc	p.S350F	LMBR1L_ENST00000547382.1_Intron|LMBR1L_ENST00000395141.4_Missense_Mutation_p.S345F	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	350					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCACCAAAGGAGCCCAGCTT	0.552000													24	44					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347637	140347637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140347637G>A	ENST00000289269.5	+	1	1818	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTGGACCGAGAGCGGGTG	0.572000													28	88					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51687033	51687033	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:51687033G>A	ENST00000335449.6	+	5	599	c.541_splice	c.e5-1	p.G181_splice	GLDN_ENST00000396399.2_Splice_Site_p.G57_splice	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	181	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TTTGGTCAGGGATACCTGGAG	0.493000													10	44					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99131889	99131889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:99131889G>A	ENST00000370992.4	-	20	2395	c.2284C>T	c.(2284-2286)Ccg>Tcg	p.P762S	RRP12_ENST00000536831.1_Missense_Mutation_p.P480S|RRP12_ENST00000414986.1_Missense_Mutation_p.P701S|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.P662S	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	762						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TCAGCACACGGAGCCAAGGCC	0.627000													11	48					0	0	1	0	0
FAM27L	284123	broad.mit.edu	37	17	21826114	21826114	+	RNA	SNP	C	C	T	rs144380293	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:21826114C>T	ENST00000426869.3	+	0	297					NR_028336.1				family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		TGACCACACTCCAGCCAAGGA	0.532000													26	63					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373381	5373381	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5373381C>T	ENST00000380219.1	+	1	644	c.644C>T	c.(643-645)tCc>tTc	p.S215F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTTTTTCTCCTACATTTTG	0.453000													18	60					0	0	1	0	0
MTNR1A	4543	broad.mit.edu	37	4	187455581	187455581	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:187455581G>A	ENST00000307161.5	-	2	516	c.315C>T	c.(313-315)ttC>ttT	p.F105F	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	105					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GGCCCATCAGGAACCCACTGA	0.532000													26	58					0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40350962	40350962	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:40350962C>T	ENST00000310169.2	+	4	568	c.429C>T	c.(427-429)atC>atT	p.I143I		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	143					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	ATGGGCTGATCACCTGGGATG	0.507000													26	31					0	0	1	0	0
EFNA4	1945	broad.mit.edu	37	1	155041574	155041574	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155041574A>C	ENST00000359751.4	+	4	656	c.569A>C	c.(568-570)aAg>aCg	p.K190T	EFNA3_ENST00000556931.1_Intron|EFNA4_ENST00000427683.2_Missense_Mutation_p.Q183H|EFNA3_ENST00000505139.1_Intron|EFNA4_ENST00000368409.3_3'UTR	NM_182689.1|NM_182690.2	NP_872631.1|NP_872632.2			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	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)			CAGACCGACAAGATGGAGCAT	0.587000													53	74					0	0	1	0	0
MTNR1B	4544	broad.mit.edu	37	11	92703056	92703056	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:92703056C>T	ENST00000257068.2	+	1	171	c.165C>T	c.(163-165)gtC>gtT	p.V55V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	55					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCGTGGACGTCGTGGGCAACC	0.692000													34	37					0	0	1	0	0
IRAK2	3656	broad.mit.edu	37	3	10258730	10258730	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:10258730C>T	ENST00000256458.4	+	7	991	c.901C>T	c.(901-903)Cag>Tag	p.Q301*		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	301	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						ACTGCAGGGTCAGGTAAGGGA	0.547000													53	27					0	0	1	0	0
EIF5A	1984	broad.mit.edu	37	17	7213002	7213002	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7213002C>T	ENST00000336458.8	+	2	449	c.48C>T	c.(46-48)gcC>gcT	p.A16A	EIF5A_ENST00000572815.1_Silent_p.A16A|EIF5A_ENST00000571955.1_Silent_p.A16A|EIF5A_ENST00000573542.1_Silent_p.A16A|EIF5A_ENST00000336452.7_Silent_p.A46A|EIF5A_ENST00000416016.2_Silent_p.A16A|EIF5A_ENST00000576930.1_Silent_p.A16A|EIF5A_ENST00000419711.2_Silent_p.A16A	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	16					induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						GGGCCTCAGCCACCTTCCCAA	0.493000													181	54					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141727502	141727502	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141727502C>T	ENST00000475668.2	+	10	1242	c.1188C>T	c.(1186-1188)gtC>gtT	p.V396V	MGAM_ENST00000549489.2_Silent_p.V396V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	396	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGAGGGAAGTCGTGGAGAGAA	0.458000													17	9					0	0	1	0	0
ACOXL	55289	broad.mit.edu	37	2	111562928	111562928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:111562928C>T	ENST00000389811.4	+	9	933	c.709C>T	c.(709-711)Cct>Tct	p.P237S	ACOXL_ENST00000439055.1_Missense_Mutation_p.P237S|ACOXL_ENST00000340561.4_Missense_Mutation_p.P237S			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	237					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						AGCACTGACCCCTTCGAGATT	0.458000													17	49					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7480447	7480447	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:7480447C>T	ENST00000399429.3	-	21	1836	c.1696G>A	c.(1696-1698)Gga>Aga	p.G566R		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	566	Collagen-like 5.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CCTGGAAGTCCCCTCTGTCCT	0.388000													46	78					0	0	1	0	0
IMPAD1	54928	broad.mit.edu	37	8	57890618	57890618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:57890618C>T	ENST00000262644.4	-	3	895	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	213						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				CCTGTATATTCGGAAAATGGC	0.338000													18	94					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180579	124180579	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:124180579G>A	ENST00000357821.2	-	1	154	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GGAACAGGAGGAAGAGGGGCA	0.473000													14	32					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20869190	20869190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20869190G>A	ENST00000298925.5	+	5	634	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	NELL1_ENST00000532434.1_Missense_Mutation_p.G133R|NELL1_ENST00000357134.5_Missense_Mutation_p.G133R|NELL1_ENST00000325319.5_Intron			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	133	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CATACACAATGGGAAGCCAAG	0.463000													5	26					0	0	1	0	0
TMF1	7110	broad.mit.edu	37	3	69079079	69079079	+	Silent	SNP	C	C	T	rs61737463		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:69079079C>T	ENST00000543976.1	-	11	2736	c.2490G>A	c.(2488-2490)caG>caA	p.Q830Q	CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000398559.2_Silent_p.Q827Q|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	827					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGGAAGACATCTGAATTTTGT	0.428000													38	76					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905334	129905334	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129905334G>A	ENST00000368654.3	-	13	5145	c.4770C>T	c.(4768-4770)ggC>ggT	p.G1590G	MKI67_ENST00000368653.3_Silent_p.G1230G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1590	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTCTTTAAAGCCAGCCAGGT	0.488000													98	62					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61468541	61468541	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61468541C>T	ENST00000343916.3	+	30	1713	c.1710C>T	c.(1708-1710)tcC>tcT	p.S570S	COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	570	Triple-helical region 2 (COL2).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCCCAGGCTCCATTGGTCACC	0.687000													24	156					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62029011	62029011	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62029011C>T	ENST00000578147.1	-	14	2702	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	SCN4A_ENST00000435607.1_Missense_Mutation_p.E876K			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	876					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TTCTCATCCTCGGGGGCAGTC	0.657000													11	5					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80223170	80223170	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:80223170A>G	ENST00000392959.1	-	4	1090	c.479T>C	c.(478-480)cTt>cCt	p.L160P	LCA5_ENST00000369846.4_Missense_Mutation_p.L160P|LCA5_ENST00000467898.2_Missense_Mutation_p.L160P	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	160					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		ACGAAATATAAGTTGTGAGAT	0.363000													7	21					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139144955	139144955	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:139144955G>A	ENST00000395297.1	-	20	4272	c.4102C>T	c.(4102-4104)Cac>Tac	p.H1368Y		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1368										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GGCAGGGCGTGGAACACGTTG	0.542000										HNSCC(54;0.14)			90	152					0	0	1	0	0
C7orf62	219557	broad.mit.edu	37	7	88424122	88424122	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:88424122G>A	ENST00000297203.2	-	2	320	c.135C>T	c.(133-135)ttC>ttT	p.F45F	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	45										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TATCAAGAAGGAATTTCTTTA	0.388000													49	67					0	0	1	0	0
KDM5B	10765	broad.mit.edu	37	1	202711822	202711822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:202711822G>A	ENST00000367265.3	-	17	3599	c.2435C>T	c.(2434-2436)tCt>tTt	p.S812F	KDM5B_ENST00000367264.2_Missense_Mutation_p.S848F	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	812					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCGCAACAGAGGCACACTT	0.443000													65	55					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71840658	71840658	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:71840658C>T	ENST00000339490.3	-	19	2354	c.2054G>A	c.(2053-2055)gGg>gAg	p.G685E	PHKA1_ENST00000541944.1_Intron|PHKA1_ENST00000373542.4_Missense_Mutation_p.G685E|PHKA1_ENST00000373545.3_Intron|PHKA1_ENST00000373539.3_Missense_Mutation_p.G685E	NM_001122670.1	NP_001116142.1	P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	685					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CCGATCTAGCCCTCCCTTCTG	0.517000													21	17					0	0	1	0	0
TAF9B	51616	broad.mit.edu	37	X	77394419	77394419	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:77394419C>T	ENST00000341864.5	-	2	148	c.54G>A	c.(52-54)gtG>gtA	p.V18V		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	18					negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						TCTGTGCCATCACCTGTGGAT	0.378000													23	22					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54785238	54785238	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:54785238G>A	ENST00000218436.6	-	8	1298	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	423	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										AGCTGAAAAGGGATACCCTGT	0.592000													11	13					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12976239	12976239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:12976239C>T	ENST00000358007.3	+	7	758	c.736C>T	c.(736-738)Ccc>Tcc	p.P246S	RP11-59H1.3_ENST00000534843.1_3'UTR|DDX47_ENST00000352940.4_Missense_Mutation_p.P246S	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	246	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		TATTTTTATTCCCTCTAAATT	0.358000													12	36					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155115612	155115612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:155115612G>A	ENST00000392825.3	+	8	1503	c.936G>A	c.(934-936)atG>atA	p.M312I	GALNT13_ENST00000409237.1_Missense_Mutation_p.M312I|GALNT13_ENST00000487047.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	312	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGCAGGAATGGATATCTGGG	0.368000													21	55					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45997425	45997425	+	Splice_Site	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45997425T>A	ENST00000245923.4	-	4	1048	c.814_splice	c.e4+1	p.L271_splice	RTN2_ENST00000590526.1_5'UTR|RTN2_ENST00000344680.4_Splice_Site_p.L271_splice|PPM1N_ENST00000401705.1_Intron	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	271						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GTTGCTTACCTAGAAGGCGTG	0.507000													74	87					0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88703133	88703133	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:88703133C>T	ENST00000372027.4	-	6	1481	c.1408G>A	c.(1408-1410)Gag>Aag	p.E470K		NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	470						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						AGGTTGAGCTCCAGGAGCTGC	0.582000													15	31					0	0	1	0	0
QSOX2	169714	broad.mit.edu	37	9	139113660	139113660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139113660G>A	ENST00000358701.5	-	6	840	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	268					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CAATCCATGCGACCCATTTGG	0.557000													35	4					0	0	1	0	0
SLC8B1	80024	broad.mit.edu	37	12	113758212	113758212	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113758212G>A	ENST00000552014.1	-	8	1133	c.618C>T	c.(616-618)atC>atT	p.I206I	SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000553238.1_Intron|SLC24A6_ENST00000202831.3_Silent_p.I206I			Q6J4K2	NCKX6_HUMAN		206					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						TGTAGAAAACGATGTCCCTGA	0.622000													69	217					0	0	1	0	0
TMCC2	9911	broad.mit.edu	37	1	205210689	205210689	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205210689C>T	ENST00000358024.3	+	2	653	c.264C>T	c.(262-264)ttC>ttT	p.F88F	TMCC2_ENST00000545499.1_Silent_p.F10F|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	88						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCACCTGTTCCACAGCCGCC	0.572000													6	40					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70307129	70307129	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:70307129C>T	ENST00000517649.1	-	5	931	c.641G>A	c.(640-642)tGg>tAg	p.W214*	NAIP_ENST00000508426.2_Nonsense_Mutation_p.W214*|NAIP_ENST00000194097.4_Nonsense_Mutation_p.W214*|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	214					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		ATGTTCCTTCCAAGGATCATC	0.383000													10	10					0	0	1	0	0
PIPSL	266971	broad.mit.edu	37	10	95720261	95720261	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:95720261C>T	ENST00000480546.1	-	0	1036					NR_002319.2																						GGCTGGTCTTCGAGTATCAAC	0.483000													18	19					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13417045	13417045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:13417045G>A	ENST00000254508.5	-	11	1472	c.1390C>T	c.(1390-1392)Ccg>Tcg	p.P464S		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	464					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGTTGCCACGGAAATGTCAAG	0.527000													34	102					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411518	126411518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126411518C>T	ENST00000394329.3	+	17	13554	c.13541C>T	c.(13540-13542)aCc>aTc	p.T4514I	FAT4_ENST00000335110.5_Missense_Mutation_p.T2755I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4514					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCTGCGCAACCGTCTTGGCC	0.572000													49	42					0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57480770	57480770	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57480770C>T	ENST00000371236.2	-	12	1493	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	DAB1_ENST00000371231.1_Missense_Mutation_p.M443I|DAB1_ENST00000371234.4_Missense_Mutation_p.M410I|DAB1_ENST00000439789.2_Missense_Mutation_p.M324I|DAB1_ENST00000414851.2_Missense_Mutation_p.M392I|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Missense_Mutation_p.M408I			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	443					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TTTCTTTGCCCATTTTCTGCC	0.612000													35	3					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30975992	30975992	+	Missense_Mutation	SNP	C	C	T	rs146035438		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30975992C>T	ENST00000262519.8	+	7	1615	c.929C>T	c.(928-930)tCc>tTc	p.S310F		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	310	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.S310F(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGCCTTTTCCCGCCGCCAC	0.602000													33	48					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99361879	99361879	+	Silent	SNP	C	C	T	rs149819086		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:99361879C>T	ENST00000376503.5	-	14	1069	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	338					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity	p.P338P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CATCGAAGATCGGGACCATGA	0.517000													8	25					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247599340	247599340	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247599340C>T	ENST00000336119.3	+	6	3313	c.2567C>T	c.(2566-2568)tCc>tTc	p.S856F	NLRP3_ENST00000366496.2_Intron|NLRP3_ENST00000391827.2_Missense_Mutation_p.S799F|NLRP3_ENST00000391828.3_Missense_Mutation_p.S856F|NLRP3_ENST00000348069.2_Intron|NLRP3_ENST00000366497.2_Intron	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	856					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCAGCCATTCCCTGACCAGA	0.483000													27	78					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528262	20528262	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20528262G>A	ENST00000315683.1	+	1	59	c.59G>A	c.(58-60)cGa>cAa	p.R20Q		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R20Q(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTTTTGGACGATGGGAACTT	0.363000													61	87					0	0	1	0	0
PCDHGB1	56104	broad.mit.edu	37	5	140730169	140730169	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140730169C>T	ENST00000523390.1	+	1	342	c.342C>T	c.(340-342)ttC>ttT	p.F114F	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAATGTTTTCCACGTGGTTG	0.423000													44	14					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35670344	35670344	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35670344G>A	ENST00000282469.6	+	10	1693	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	SPEF2_ENST00000440995.2_Intron|SPEF2_ENST00000356031.3_Intron|SPEF2_ENST00000509059.1_Intron	NM_144722.3	NP_653323.1	Q9C093	SPEF2_HUMAN	sperm flagellar 2	0					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTACTGATATGAAATAATTAG	0.294000													11	51					0	0	1	0	0
OR10G4	390264	broad.mit.edu	37	11	123886642	123886642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123886642C>T	ENST00000320891.4	+	1	361	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R121C(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTCCTATGATCGCTACTTGGC	0.572000													31	26					0	0	1	0	0
L1TD1	54596	broad.mit.edu	37	1	62675881	62675881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:62675881G>A	ENST00000498273.1	+	4	1730	c.1435G>A	c.(1435-1437)Gag>Aag	p.E479K		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	479	Glu-rich.									breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TTCTGAATCAGAGGAGGAAGA	0.413000													23	1					0	0	1	0	0
LRRC34	151827	broad.mit.edu	37	3	169514631	169514631	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169514631T>C	ENST00000522526.2	-	7	1151	c.714A>G	c.(712-714)gcA>gcG	p.A238A	LRRC34_ENST00000446859.1_Silent_p.A270A|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522830.1_Silent_p.A209A|LRRC34_ENST00000316515.7_Silent_p.A225A			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	225										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACATGTGTAGTGCAACAAGAC	0.368000													34	14					0	0	1	0	0
TUBG1	7283	broad.mit.edu	37	17	40766974	40766974	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40766974C>T	ENST00000251413.3	+	11	1333	c.1271C>T	c.(1270-1272)tCc>tTc	p.S424F		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	424					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ATGGACACATCCAGGGAGATT	0.577000													42	133					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172745119	172745119	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:172745119C>T	ENST00000265087.4	-	4	1949	c.640G>A	c.(640-642)Gcc>Acc	p.A214T		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	214					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TTCTGGATGGCCGAGGTGCAG	0.652000													40	22					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10386378	10386378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:10386378C>T	ENST00000377086.1	+	27	3087	c.2885C>T	c.(2884-2886)cCg>cTg	p.P962L	KIF1B_ENST00000263934.6_Missense_Mutation_p.P916L|KIF1B_ENST00000377081.1_Missense_Mutation_p.P962L			O60333	KIF1B_HUMAN	kinesin family member 1B	962					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.P916R(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GGGCATGACCCGTTTTACGAC	0.532000													79	8					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176833456	176833456	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176833456G>A	ENST00000367654.2	-	23	3886	c.3873C>T	c.(3871-3873)atC>atT	p.I1291I	ASTN1_ENST00000361833.2_Silent_p.I1283I|ASTN1_ENST00000367657.3_Intron			O14525	ASTN1_HUMAN	astrotactin 1	1291					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGTTGTAGGGGATACTCAGGG	0.572000													76	131					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124297749	124297749	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124297749C>T	ENST00000409039.3	+	19	2854	c.2829C>T	c.(2827-2829)tgC>tgT	p.C943C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	943	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCATAGAATGCCCACCTCAGA	0.398000													5	40					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57381809	57381809	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:57381809G>A	ENST00000403558.1	+	7	1753	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	SERPING1_ENST00000340687.6_Missense_Mutation_p.D383N|SERPING1_ENST00000378323.4_Missense_Mutation_p.D425N|SERPING1_ENST00000378324.2_Missense_Mutation_p.D368N|SERPING1_ENST00000278407.4_Missense_Mutation_p.D420N	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	420					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						AGAATTCTTCGATTTTTCTTA	0.483000													59	68					0	0	1	0	0
ASCC1	51008	broad.mit.edu	37	10	73892920	73892920	+	Nonsense_Mutation	SNP	G	G	A	rs141611243		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:73892920G>A	ENST00000342444.4	-	9	951	c.850C>T	c.(850-852)Cga>Tga	p.R284*	ASCC1_ENST00000394919.1_Nonsense_Mutation_p.R256*|ASCC1_ENST00000317168.6_Nonsense_Mutation_p.R256*|ASCC1_ENST00000317126.4_Nonsense_Mutation_p.R256*|ASCC1_ENST00000394915.3_Nonsense_Mutation_p.R284*|ASCC1_ENST00000545550.1_Nonsense_Mutation_p.R278*	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						TCCAGCACTCGATCAACTAAT	0.378000													9	30					0	0	1	0	0
CD1C	911	broad.mit.edu	37	1	158261127	158261127	+	Missense_Mutation	SNP	C	C	T	rs145638725		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158261127C>T	ENST00000368170.3	+	2	544	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	89					antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	p.R89C(1)		NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GTTGTTATTTCGTTTCTACCT	0.398000													22	103					0	0	1	0	0
MPST	4357	broad.mit.edu	37	22	37420837	37420837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:37420837C>T	ENST00000397225.2	+	2	1496	c.581C>T	c.(580-582)cCc>cTc	p.P194L	MPST_ENST00000397129.1_Missense_Mutation_p.P214L|MPST_ENST00000404393.1_Missense_Mutation_p.P194L|MPST_ENST00000404802.3_Missense_Mutation_p.P194L|MPST_ENST00000429360.2_Missense_Mutation_p.P194L|MPST_ENST00000341116.3_Missense_Mutation_p.P194L|MPST_ENST00000401419.3_Missense_Mutation_p.P194L			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	194	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						GGCACCGAGCCCGAGCCCCGA	0.647000													12	8					0	0	1	0	0
FAM214B	80256	broad.mit.edu	37	9	35105349	35105349	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:35105349G>A	ENST00000378561.1	-	8	4541	c.1486C>T	c.(1486-1488)Cgc>Tgc	p.R496C	FAM214B_ENST00000322813.5_Missense_Mutation_p.R496C|FAM214B_ENST00000378566.1_Missense_Mutation_p.R191C|FAM214B_ENST00000605244.1_Missense_Mutation_p.R496C|FAM214B_ENST00000603301.1_Missense_Mutation_p.R496C|FAM214B_ENST00000488109.2_Missense_Mutation_p.R496C|FAM214B_ENST00000378557.1_Missense_Mutation_p.R496C|FAM214B_ENST00000378554.2_Intron			Q7L5A3	K1539_HUMAN	family with sequence similarity 214, member B	496						nucleus											AGGCTTAAGCGGCCTGAGCGG	0.597000													21	3					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94088532	94088532	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94088532G>A	ENST00000553484.1	+	31	5173	c.5019G>A	c.(5017-5019)acG>acA	p.T1673T	UNC79_ENST00000393151.2_Silent_p.T1651T|UNC79_ENST00000555664.1_Silent_p.T1651T|UNC79_ENST00000256339.4_Silent_p.T1474T			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1651						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGAGGAGACGATGAACCAAG	0.552000													15	79					0	0	1	0	0
DLGAP1	9229	broad.mit.edu	37	18	3581967	3581967	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:3581967G>A	ENST00000315677.3	-	8	2466	c.1871C>T	c.(1870-1872)aCc>aTc	p.T624I	DLGAP1_ENST00000584874.1_Missense_Mutation_p.T624I|DLGAP1_ENST00000515196.2_Missense_Mutation_p.T624I|DLGAP1_ENST00000534970.1_Missense_Mutation_p.T308I|DLGAP1_ENST00000581527.1_Missense_Mutation_p.T624I|DLGAP1_ENST00000400149.3_Missense_Mutation_p.T314I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.T340I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.T332I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.T330I|DLGAP1_ENST00000400147.2_Missense_Mutation_p.T322I|DLGAP1_ENST00000400145.2_Missense_Mutation_p.T322I|DLGAP1_ENST00000581699.1_Missense_Mutation_p.T330I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	624	Poly-Thr.				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ggtggtgacggtggcagtgTT	0.542000													16	14					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41727125	41727125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41727125C>T	ENST00000301178.4	+	3	573	c.383C>T	c.(382-384)tCc>tTc	p.S128F	AXL_ENST00000359092.3_Missense_Mutation_p.S128F|AXL_ENST00000594880.1_3'UTR	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	128	Ig-like C2-type 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						ACCTTCGTGTCCCAGCCTGGC	0.577000													13	47					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141079576	141079576	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141079576C>T	ENST00000389484.3	-	82	13567	c.12596G>A	c.(12595-12597)gGa>gAa	p.G4199E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4199					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAATATTTTCCTTCTGGACA	0.358000										TSP Lung(27;0.18)			11	43					0	0	1	0	0
LARP1	23367	broad.mit.edu	37	5	154182949	154182949	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:154182949C>T	ENST00000336314.4	+	12	2002	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	737							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGAAGTTCCTCCTGGGCCACC	0.567000													4	36					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131554251	131554251	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:131554251G>A	ENST00000401867.1	-	3	637	c.69C>T	c.(67-69)ttC>ttT	p.F23F	P4HA2_ENST00000166534.4_Silent_p.F23F|P4HA2_ENST00000379100.2_Silent_p.F23F|P4HA2_ENST00000360568.3_Silent_p.F23F|P4HA2_ENST00000379104.2_Silent_p.F23F|P4HA2_ENST00000379086.1_Silent_p.F23F			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	23						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TAGAGGTGAAGAATTCGGCCT	0.527000													14	6					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76495858	76495858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:76495858G>A	ENST00000307431.8	+	10	1721	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.E374K|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.E450K|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.E398K	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	447	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CCTAGGTGTCGAATTAAATGA	0.443000													28	41					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28273157	28273157	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:28273157C>T	ENST00000305242.5	-	5	730	c.638G>A	c.(637-639)gGa>gAa	p.G213E	ARMC4_ENST00000239715.3_Missense_Mutation_p.G70E	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	213							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GTTTCCTTTTCCTGAGAAACG	0.308000													62	77					0	0	1	0	0
MCF2	4168	broad.mit.edu	37	X	138701769	138701769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:138701769C>T	ENST00000520602.1	-	10	1249	c.964G>A	c.(964-966)Gaa>Aaa	p.E322K	MCF2_ENST00000414978.1_Missense_Mutation_p.E322K|MCF2_ENST00000370573.4_Missense_Mutation_p.E262K|MCF2_ENST00000370576.4_Missense_Mutation_p.E262K|MCF2_ENST00000536274.1_Missense_Mutation_p.E223K|MCF2_ENST00000370578.4_Missense_Mutation_p.E407K|MCF2_ENST00000519895.1_Missense_Mutation_p.E322K|MCF2_ENST00000338585.6_Missense_Mutation_p.E262K			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	262					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTAAGTTTTCCAATTTTTTT	0.318000													8	11					0	0	1	0	0
APOC4-APOC2	100533990	broad.mit.edu	37	19	45445539	45445539	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45445539C>T	ENST00000419266.2	+	1	45	c.5C>T	c.(4-6)tCc>tTc	p.S2F	APOC4_ENST00000592954.1_Missense_Mutation_p.S2F|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.S2F|APOC4_ENST00000591600.1_Missense_Mutation_p.S2F|APOC4-APOC2_ENST00000436871.1_Missense_Mutation_p.S2F																							CCAGAAATGTCCCTCCTCAGA	0.677000													72	87					0	0	1	0	0
IGHV2-26	28455	broad.mit.edu	37	14	106757824	106757824	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106757824G>A	ENST00000390611.2	-	0	206																											CCTTCCCTGGGGGCTGACGGA	0.547000													10	61					0	0	1	0	0
PCDH9	5101	broad.mit.edu	37	13	67205428	67205428	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:67205428G>A	ENST00000544246.1	-	4	3945	c.3254C>T	c.(3253-3255)cCt>cTt	p.P1085L	PCDH9_ENST00000456367.1_Missense_Mutation_p.P1051L|PCDH9_ENST00000328454.5_Missense_Mutation_p.P1051L|PCDH9_ENST00000377865.2_Missense_Mutation_p.P1085L	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	1085					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CTGAACCAGAGGAAGAGGGTG	0.552000													22	63					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955726	51955726	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51955726T>C	ENST00000321424.3	-	7	1473	c.1407A>G	c.(1405-1407)gaA>gaG	p.E469E	SIGLEC8_ENST00000430817.1_Silent_p.E360E|SIGLEC8_ENST00000340550.5_Silent_p.E376E	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	469					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCTCCGAGTATTCACTGTCAG	0.537000													51	75					0	0	1	0	0
WNT10B	7480	broad.mit.edu	37	12	49361857	49361857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49361857C>T	ENST00000301061.4	-	4	931	c.583G>A	c.(583-585)Gaa>Aaa	p.E195K	WNT10B_ENST00000403957.1_Intron|WNT10B_ENST00000407467.1_Intron	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	195					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CCACCCCATTCCCATGTGTCC	0.617000													10	42					0	0	1	0	0
DHX30	22907	broad.mit.edu	37	3	47887900	47887900	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47887900C>T	ENST00000446256.2	+	12	1793	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	DHX30_ENST00000348968.4_Silent_p.A418A|DHX30_ENST00000457607.1_Silent_p.A474A|DHX30_ENST00000445061.1_Silent_p.A446A	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	446						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCTCAACGCCATTGAGCAGC	0.662000													37	57					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74072893	74072893	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74072893A>G	ENST00000370367.3	+	2	298	c.245A>G	c.(244-246)aAc>aGc	p.N82S		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		TTGGACCCTAACGGCGAGGCT	0.572000													20	57					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13922233	13922233	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13922233C>T	ENST00000265104.4	-	5	747	c.643G>A	c.(643-645)Gag>Aag	p.E215K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	215	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCAGACTCTCCTGTGCACCC	0.507000									Kartagener syndrome				36	13					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30999284	30999284	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30999284C>T	ENST00000298139.5	+	26	3475	c.3226C>T	c.(3226-3228)Ctg>Ttg	p.L1076L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1076					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GAAGTTGCTTCTGCCTAGGTT	0.338000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				12	12					0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167246928	167246928	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:167246928A>G	ENST00000308378.3	-	10	1567	c.1262T>C	c.(1261-1263)gTt>gCt	p.V421A	WDR49_ENST00000453925.2_Missense_Mutation_p.V485A|WDR49_ENST00000476376.1_Missense_Mutation_p.V246A|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	421										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AATCGATCCAACTCCACTATG	0.378000													46	11					0	0	1	0	0
APP	351	broad.mit.edu	37	21	27394171	27394171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:27394171C>T	ENST00000358918.3	-	6	1049	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	APP_ENST00000448388.2_Missense_Mutation_p.E249K|APP_ENST00000439274.2_Missense_Mutation_p.E228K|APP_ENST00000346798.3_Missense_Mutation_p.E284K|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_Missense_Mutation_p.E279K|APP_ENST00000348990.5_Missense_Mutation_p.E284K|APP_ENST00000359726.3_Missense_Mutation_p.E284K|APP_ENST00000354192.3_Missense_Mutation_p.E228K|APP_ENST00000357903.3_Missense_Mutation_p.E284K	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	284					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				ACCACCTCTTCCACAGACTCT	0.527000													18	19					0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433486	55433486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55433486C>T	ENST00000314259.3	+	1	873	c.844C>T	c.(844-846)Ccc>Tcc	p.P282S		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CATGTTAAATCCCTTGATCTA	0.458000													23	26					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18788706	18788706	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:18788706G>A	ENST00000406451.3	+	14	2129	c.1979G>A	c.(1978-1980)cGa>cAa	p.R660Q	HDAC9_ENST00000401921.1_Missense_Mutation_p.R619Q|HDAC9_ENST00000432645.2_Missense_Mutation_p.R660Q|HDAC9_ENST00000441542.2_Missense_Mutation_p.R663Q	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	660	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R663Q(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CATGCTGGACGAATACAGAGT	0.433000													5	50					0	0	1	0	0
ZNF580	51157	broad.mit.edu	37	19	56153915	56153915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56153915C>T	ENST00000543039.1	+	1	498	c.41C>T	c.(40-42)tCc>tTc	p.S14F	ZNF580_ENST00000325333.5_Missense_Mutation_p.S14F|ZNF580_ENST00000545125.1_Missense_Mutation_p.S14F|ZNF581_ENST00000587252.1_Intron	NM_016202.2	NP_057286.1	Q9UK33	ZN580_HUMAN	zinc finger protein 580	14	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CCTCGGTCCTCCTCTCCGGAG	0.692000													10	27					0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16360142	16360142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:16360142G>A	ENST00000375692.1	+	21	2178	c.2050G>A	c.(2050-2052)Gct>Act	p.A684T	CLCNKA_ENST00000331433.4_Missense_Mutation_p.A685T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.A684T|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.A642T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	685	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AAATCCGCCAGCTCCAAAGTG	0.577000													22	5					0	0	1	0	0
VPS54	51542	broad.mit.edu	37	2	64140414	64140414	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:64140414G>A	ENST00000354504.3	-	15	2495	c.1906C>T	c.(1906-1908)Ctt>Ttt	p.L636F	VPS54_ENST00000409558.3_Missense_Mutation_p.L777F|VPS54_ENST00000272322.4_Missense_Mutation_p.L789F			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	789					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						CCAGCTCCAAGAACTAACTGG	0.353000													5	39					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42476376	42476376	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42476376C>A	ENST00000434000.1	-	9	3117	c.2835G>T	c.(2833-2835)cgG>cgT	p.R945R	GPATCH8_ENST00000591680.1_Silent_p.R1023R			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1023	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GAATGAAGTCCCGACGCCCAG	0.597000													11	37					3.07112e-06	3.0807e-06	1	1	0
RASGRP1	10125	broad.mit.edu	37	15	38800089	38800089	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:38800089C>T	ENST00000310803.5	-	9	1257	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	RASGRP1_ENST00000558164.1_Silent_p.K360K|RASGRP1_ENST00000539159.1_Silent_p.K312K|RASGRP1_ENST00000561180.1_Silent_p.K411K|RASGRP1_ENST00000450598.2_Silent_p.K360K|RASGRP1_ENST00000559830.1_Silent_p.K360K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	360	Ras-GEF.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		AGATGAGGTCCTTGAGATGCA	0.507000													5	21					0	0	1	0	0
GML	2765	broad.mit.edu	37	8	143927900	143927900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:143927900G>A	ENST00000220940.1	+	4	361	c.271G>A	c.(271-273)Gga>Aga	p.G91R		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	91	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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)					TGAAGCCCCAGGAAAAATCTT	0.383000													7	32					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179659850	179659850	+	Silent	SNP	C	C	T	rs144392545		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179659850C>T	ENST00000444136.1	+	18	3130	c.2880C>T	c.(2878-2880)atC>atT	p.I960I	TDRD5_ENST00000294848.8_Silent_p.I906I|TDRD5_ENST00000367614.1_Silent_p.I906I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	906					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CACCAGAGATCCTAAAGAATG	0.408000													31	28					0	0	1	0	0
C16orf92	146378	broad.mit.edu	37	16	30035385	30035385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30035385C>T	ENST00000300575.2	+	3	376	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	119						integral to membrane				breast(3)|lung(3)	6						CTTCTTTCTCCTTTTCCAGTT	0.587000													28	50					0	0	1	0	0
PLXNA3	55558	broad.mit.edu	37	X	153696180	153696180	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153696180C>T	ENST00000369682.3	+	21	3831	c.3656C>T	c.(3655-3657)cCg>cTg	p.P1219L		NM_017514.3	NP_059984.2	P51805	PLXA3_HUMAN	plexin A3	1219					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGACCCTACCGGCCATGATG	0.692000													31	1					0	0	1	0	0
SMC6	79677	broad.mit.edu	37	2	17847771	17847771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17847771C>T	ENST00000448223.2	-	27	3346	c.3077G>A	c.(3076-3078)aGg>aAg	p.R1026K	SMC6_ENST00000381272.4_Missense_Mutation_p.R1052K|SMC6_ENST00000402989.1_Missense_Mutation_p.R1026K|SMC6_ENST00000351948.4_Missense_Mutation_p.R1026K	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1026					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGCAATTCTCCTATTAACCAT	0.388000													35	10					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874637	74874637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74874637G>A	ENST00000331628.3	-	3	720	c.473C>T	c.(472-474)cCc>cTc	p.P158L	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.P158L	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	158					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GTGGTCCCTGGGAGGCAGCGT	0.572000													20	19					0	0	1	0	0
IGHV1-69	28461	broad.mit.edu	37	14	107170178	107170178	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:107170178G>A	ENST00000390633.2	-	0	164																											CTTCACCGAGGACCCAGGCTT	0.572000													14	103					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104185	53104185	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53104185C>T	ENST00000408890.4	+	1	837	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	274										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAACGCCTTCCTGCGGCAGC	0.637000													37	90					0	0	1	0	0
ZKSCAN3	80317	broad.mit.edu	37	6	28333681	28333681	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28333681C>T	ENST00000377255.3	+	7	1533	c.1236C>T	c.(1234-1236)agC>agT	p.S412S	ZKSCAN3_ENST00000252211.2_Silent_p.S412S|ZKSCAN3_ENST00000341464.5_Silent_p.S264S	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	412					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						AGAGCTGCAGCCTCCTTGAAC	0.507000													10	54					0	0	1	0	0
MIR1197	100302250	broad.mit.edu	37	14	101491915	101491915	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:101491915G>A	ENST00000408818.1	+	0	15					NR_031713.1																						CCTGGTATTTGAAGATGCGGT	0.502000													39	26					0	0	1	0	0
EYA2	2139	broad.mit.edu	37	20	45808448	45808448	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:45808448T>C	ENST00000327619.5	+	13	1575	c.1201T>C	c.(1201-1203)Ttg>Ctg	p.L401L	EYA2_ENST00000317304.6_Silent_p.L371L|EYA2_ENST00000357410.3_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	401					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GTCCACAGGGTTGATAGGCAC	0.502000													4	16					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539710	94539710	+	Silent	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:94539710T>A	ENST00000289495.5	+	1	501	c.285T>A	c.(283-285)tcT>tcA	p.S95S	PPP1R9A_ENST00000340694.4_Silent_p.S95S|PPP1R9A_ENST00000433881.1_Silent_p.S95S|PPP1R9A_ENST00000433360.1_Silent_p.S95S|PPP1R9A_ENST00000456331.2_Silent_p.S95S|PPP1R9A_ENST00000424654.1_Silent_p.S95S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	95	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GACATTCATCTCCTCAGAGAA	0.398000										HNSCC(28;0.073)			8	60					0	0	1	0	0
ZNF488	118738	broad.mit.edu	37	10	48370815	48370815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48370815G>A	ENST00000395702.2	+	2	510	c.283G>A	c.(283-285)Gga>Aga	p.G95R	ZNF488_ENST00000586537.1_Intron|ZNF488_ENST00000494156.1_Intron			Q96MN9	ZN488_HUMAN	zinc finger protein 488	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						GAAGACACGTGGAGAGCAGAG	0.687000													6	20					0	0	1	0	0
USP30	84749	broad.mit.edu	37	12	109494566	109494566	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109494566C>T	ENST00000257548.5	+	2	256	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	USP30_ENST00000392784.2_Missense_Mutation_p.P24S	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	55					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TATTTGGGGTCCCATTACAGA	0.383000													79	80					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	22078763	22078763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:22078763G>A	ENST00000382254.1	-	5	1109	c.23C>T	c.(22-24)tCc>tTc	p.S8F	CDH12_ENST00000504376.2_Missense_Mutation_p.S8F|CDH12_ENST00000522262.1_Missense_Mutation_p.S8F	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	8					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGAAGCAGGGATAAACAGTT	0.438000										HNSCC(59;0.17)			25	104					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69703791	69703791	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:69703791C>T	ENST00000370598.1	+	11	2687	c.1866C>T	c.(1864-1866)atC>atT	p.I622I		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	622					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGTGGAGATCCTGAGAAATG	0.458000													29	74					0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60985612	60985612	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:60985612G>A	ENST00000398117.1	-	1	1749	c.288C>T	c.(286-288)acC>acT	p.T96T	BCL2_ENST00000333681.4_Silent_p.T96T|BCL2_ENST00000589955.1_Silent_p.T96T|BCL2_ENST00000444484.1_Silent_p.T96T	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	96				T -> A (in Ref. 8; AAD14111).	activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CCTGGCGGAGGGTCAGGTGGA	0.766000			T	IGH@	"""NHL, CLL"""								10	12					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635652	33635652	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:33635652C>T	ENST00000380099.3	+	4	2444	c.2436C>T	c.(2434-2436)atC>atT	p.I812I	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	812	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		ATACCACCATCCTTGTAGACT	0.388000													13	28					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115112504	115112504	+	Silent	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:115112504G>T	ENST00000349155.2	-	6	2139	c.1176C>A	c.(1174-1176)gtC>gtA	p.V392V	TBX3_ENST00000257566.3_Silent_p.V412V	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	412					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GGTGAGCCTTGACCGCGGGGC	0.692000													6	23					2.0095e-06	2.01651e-06	1	1	0
DNAH3	55567	broad.mit.edu	37	16	21063006	21063006	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21063006G>A	ENST00000261383.3	-	29	4222	c.4223C>T	c.(4222-4224)aCc>aTc	p.T1408I	DNAH3_ENST00000415178.1_Missense_Mutation_p.T1408I	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1408	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCAGCGGTCGGTGAGGGGTGT	0.557000													46	35					0	0	1	0	0
ETV4	2118	broad.mit.edu	37	17	41610061	41610061	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:41610061C>T	ENST00000319349.5	-	8	1090	c.792G>A	c.(790-792)acG>acA	p.T264T	ETV4_ENST00000545954.1_Silent_p.T225T|ETV4_ENST00000393664.2_Silent_p.T264T|ETV4_ENST00000545089.1_Silent_p.T210T|ETV4_ENST00000538265.1_Silent_p.T225T|ETV4_ENST00000591713.1_Silent_p.T264T	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	264					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		AGGCGAAGTCCGTCTGTTCCT	0.572000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""								19	86					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51770765	51770765	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51770765T>G	ENST00000316401.7	+	5	930	c.549T>G	c.(547-549)ttT>ttG	p.F183L	SIGLECL1_ENST00000597824.1_Missense_Mutation_p.F89L|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1			SIGLEC family like 1																		TCGCCACATTTTCTGAGAGCC	0.453000													53	62					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150720253	150720253	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150720253G>A	ENST00000605938.1	-	4	775	c.700C>T	c.(700-702)Cga>Tga	p.R234*	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_5'UTR|ATG9B_ENST00000377974.2_Nonsense_Mutation_p.R234*|ATG9B_ENST00000605952.1_Nonsense_Mutation_p.R234*	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	234					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane		p.R234*(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCACGCATCGAAGGAGGAAG	0.537000													59	148					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39792092	39792092	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:39792092C>T	ENST00000373272.2	+	9	1269	c.864C>T	c.(862-864)atC>atT	p.I288I	PLCG1_ENST00000244007.3_Silent_p.I288I|PLCG1_ENST00000373271.1_Silent_p.I288I	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	288					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TACGAGAGATCGAGGAGCCAT	0.577000													15	50					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10219109	10219109	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10219109C>T	ENST00000418404.3	-	28	4048	c.3885G>A	c.(3883-3885)gtG>gtA	p.V1295V	MYH13_ENST00000570743.1_Silent_p.V1295V|MYH13_ENST00000252172.4_Silent_p.V1295V			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1295					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCTTCTCTTCCACTCGGTGGC	0.577000													19	48					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368644	22368644	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22368644C>T	ENST00000332663.2	+	1	167	c.69C>T	c.(67-69)gtC>gtT	p.V23V	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CTCCAGAGGTCCAACTAGTCC	0.378000													25	274					0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147741282	147741282	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:147741282C>T	ENST00000513335.1	-	11	1373	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	TTC29_ENST00000398886.4_Missense_Mutation_p.E392K|TTC29_ENST00000325106.4_Missense_Mutation_p.E366K			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	366							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CTCACTTTTTCATTGTAGATG	0.328000													28	105					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140740892	140740892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140740892C>T	ENST00000522605.1	+	1	1190	c.1190C>T	c.(1189-1191)tCc>tTc	p.S397F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGAAATCTTCCTCAAAGAAC	0.473000													22	81					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18066229	18066229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18066229G>A	ENST00000327451.5	+	7	876	c.338G>A	c.(337-339)gGg>gAg	p.G113E	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000399813.1_Missense_Mutation_p.G113E|SLC25A18_ENST00000497401.1_3'UTR	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	113						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	TGTGGGGCTGGGATGTGCCAG	0.622000													10	192					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7021886	7021886	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7021886G>A	ENST00000278314.4	-	3	1343	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L	ZNF214_ENST00000536068.1_Missense_Mutation_p.S343L	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTGAAGTAATGAATTTCTACT	0.363000													18	56					0	0	1	0	0
SYNE4	163183	broad.mit.edu	37	19	36494527	36494527	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36494527T>C	ENST00000324444.3	-	7	1130	c.1019A>G	c.(1018-1020)gAg>gGg	p.E340G	SYNE4_ENST00000340477.5_Missense_Mutation_p.E227G	NM_001039876.1	NP_001034965.1			spectrin repeat containing, nuclear envelope family member 4																		TGGATTCCCCTCCAGCCTCAC	0.527000													7	19					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41313857	41313857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41313857C>T	ENST00000377801.3	-	3	902	c.828G>A	c.(826-828)atG>atA	p.M276I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.M276I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	276					intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CCCACTGCATCATGGCAGGAA	0.433000													25	17					0	0	1	0	0
ZNF224	7767	broad.mit.edu	37	19	44611664	44611664	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44611664A>T	ENST00000336976.6	+	6	1605	c.1351A>T	c.(1351-1353)Aca>Tca	p.T451S	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	451					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				GCGCGTCCATACAGGAGAGAA	0.458000													21	27					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141494	29141494	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29141494C>T	ENST00000377167.2	+	1	184	c.82C>T	c.(82-84)Ctc>Ttc	p.L28F		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GGAAGTAGTTCTCTTTGTGGT	0.383000													56	109					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54903523	54903523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54903523G>A	ENST00000293373.6	+	6	656	c.577G>A	c.(577-579)Gag>Aag	p.E193K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E143K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	193					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|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 actin filament polymerization|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 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|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCTGACAGAAGAGTTTGGGCC	0.478000													86	99					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83037700	83037700	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:83037700A>G	ENST00000307792.3	-	6	1121	c.654T>C	c.(652-654)gaT>gaC	p.D218D	SEMA3E_ENST00000427262.1_Silent_p.D158D	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	218	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACAGACGCTCATCGTCATGCT	0.443000													29	27					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16291899	16291899	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16291899G>A	ENST00000205557.7	-	10	1346	c.1317C>T	c.(1315-1317)gtC>gtT	p.V439V	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	439	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		AGACGAAGCAGACCACGATCC	0.622000													3	17					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330329	128330329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128330329C>T	ENST00000368227.3	-	14	2645	c.2279G>A	c.(2278-2280)gGa>gAa	p.G760E	PTPRK_ENST00000368215.3_Missense_Mutation_p.G759E|PTPRK_ENST00000368213.5_Missense_Mutation_p.G760E|PTPRK_ENST00000368210.3_Missense_Mutation_p.G760E|PTPRK_ENST00000532331.1_Missense_Mutation_p.G760E|PTPRK_ENST00000368226.4_Missense_Mutation_p.G760E|PTPRK_ENST00000368207.3_Missense_Mutation_p.G760E|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	759					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CACCAAAATTCCAGCACTAAT	0.408000													11	47					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56954888	56954888	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56954888C>T	ENST00000497933.1	+	2	1107	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	290						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCACCAACTTCCTCCTGGGCA	0.572000													27	33					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110450793	110450793	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:110450793C>T	ENST00000260283.4	-	16	3161	c.2877G>A	c.(2875-2877)caG>caA	p.Q959Q	ARHGAP20_ENST00000529591.1_Silent_p.Q502Q|ARHGAP20_ENST00000527598.1_Silent_p.Q923Q|ARHGAP20_ENST00000533353.1_Silent_p.Q933Q|ARHGAP20_ENST00000528829.1_Silent_p.Q923Q|ARHGAP20_ENST00000524756.1_Silent_p.Q936Q|ARHGAP20_ENST00000357139.3_Silent_p.Q933Q	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	959	Ser-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GTTCAGAAATCTGAGAAAAAG	0.473000													23	15					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107564426	107564426	+	Missense_Mutation	SNP	G	G	A	rs74913556		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:107564426G>A	ENST00000374736.3	-	34	5001	c.4607C>T	c.(4606-4608)tCc>tTc	p.S1536F		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1536					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GACACCCAGGGAAAAGCCGCC	0.448000													10	11					0	0	1	0	0
ZNF713	349075	broad.mit.edu	37	7	56007289	56007289	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:56007289C>T	ENST00000429591.2	+	4	921	c.883C>T	c.(883-885)Cac>Tac	p.H295Y	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCAGAGAATTCACACAGGAGA	0.428000													84	39					0	0	1	0	0
SGSM3	27352	broad.mit.edu	37	22	40803047	40803047	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:40803047G>A	ENST00000248929.9	+	11	1401	c.1212G>A	c.(1210-1212)agG>agA	p.R404R	SGSM3_ENST00000454798.2_Silent_p.R337R	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	404					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCCAGCGGAGGAAGTCCACCA	0.627000													4	1					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40400106	40400106	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:40400106C>T	ENST00000338305.6	-	2	1289	c.747G>A	c.(745-747)gaG>gaA	p.E249E		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	249	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCAGAGAAGCTCACAATTGC	0.602000													21	33					0	0	1	0	0
OVCH2	341277	broad.mit.edu	37	11	7720305	7720305	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7720305C>T	ENST00000454689.1	-	0	916				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ACCTCTGGAGCTCTTTCTCCG	0.463000													12	8					0	0	1	0	0
CLDN9	9080	broad.mit.edu	37	16	3063628	3063628	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3063628C>T	ENST00000445369.2	+	1	1172	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L		NM_020982.3	NP_066192.1	O95484	CLD9_HUMAN	claudin 9	89					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						CATTGCCCTCCTGCTGGCCCT	0.657000													19	51					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510314	5510314	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5510314T>C	ENST00000322641.5	+	1	400	c.378T>C	c.(376-378)taT>taC	p.Y126Y	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGATAGGTATGTGGCTATCT	0.453000													38	115					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	72680510	72680510	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:72680510C>T	ENST00000261180.4	+	2	925	c.829C>T	c.(829-831)Cct>Tct	p.P277S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	277					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAAGGCATTTCCTTGTTTTGA	0.363000													22	77					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48703270	48703270	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:48703270G>A	ENST00000316623.5	-	66	8988	c.8533C>T	c.(8533-8535)Cta>Tta	p.L2845L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	2845					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TTGTCTTCTAGTTGGTTAAGT	0.388000													41	50					0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42621504	42621504	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42621504G>A	ENST00000389341.5	-	5	267	c.201C>T	c.(199-201)gaC>gaT	p.D67D	POU2F2_ENST00000529067.1_Silent_p.D67D|POU2F2_ENST00000526816.2_Silent_p.D67D|POU2F2_ENST00000342301.4_Silent_p.D67D|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000560398.1_Silent_p.D89D|POU2F2_ENST00000533720.1_Silent_p.D67D|POU2F2_ENST00000524801.2_5'UTR|POU2F2_ENST00000529952.1_Silent_p.D67D	NM_001207025.2|NM_001247994.1|NM_002698.4	NP_001193954.1|NP_001234923.1|NP_002689.1	P09086	PO2F2_HUMAN	POU class 2 homeobox 2	67					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				CGCCACTGGGGTCTTCAGCCT	0.642000													34	42					0	0	1	0	0
ABCA4	24	broad.mit.edu	37	1	94564538	94564538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:94564538C>T	ENST00000370225.3	-	6	666	c.580G>A	c.(580-582)Gga>Aga	p.G194R	ABCA4_ENST00000535735.1_Missense_Mutation_p.G194R	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	194					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCGGGACTCCATGAGCGAAC	0.582000													11	2					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128380870	128380870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128380870G>A	ENST00000389524.4	+	28	3714	c.3661G>A	c.(3661-3663)Gaa>Aaa	p.E1221K	MYO7B_ENST00000409090.1_Missense_Mutation_p.E74K|MYO7B_ENST00000428314.1_Missense_Mutation_p.E1221K|MYO7B_ENST00000409816.2_Missense_Mutation_p.E1221K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1221	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CACATCTCGGGAAATGTGCAT	0.607000													6	17					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5568198	5568198	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:5568198G>A	ENST00000331789.5	-	4	707	c.516C>T	c.(514-516)ccC>ccT	p.P172P		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	172					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGATGGCATGGGGGAGGGCAT	0.637000													64	144					0	0	1	0	0
FBXW11	23291	broad.mit.edu	37	5	171299925	171299925	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:171299925G>A	ENST00000296933.6	-	9	1559	c.1189C>T	c.(1189-1191)Cag>Tag	p.Q397*	FBXW11_ENST00000393802.2_Nonsense_Mutation_p.Q376*|FBXW11_ENST00000265094.5_Nonsense_Mutation_p.Q410*|FBXW11_ENST00000425623.2_Nonsense_Mutation_p.Q378*	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	410					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCCTGTACTGGAGACAGGCA	0.453000													13	35					0	0	1	0	0
EGFL6	25975	broad.mit.edu	37	X	13637345	13637345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:13637345C>T	ENST00000361306.1	+	9	1423	c.1166C>T	c.(1165-1167)tCc>tTc	p.S389F	EGFL6_ENST00000380602.3_Missense_Mutation_p.S389F	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	389					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						GCGCTAACTTCCAAACTGGAA	0.378000													31	3					0	0	1	0	0
OR5H1	26341	broad.mit.edu	37	3	97852246	97852246	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:97852246G>A	ENST00000354565.2	+	1	705	c.705G>A	c.(703-705)agG>agA	p.R235R	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAGGTGTAAGGAAAGCCTTTT	0.408000													22	72					0	0	1	0	0
CSTL1	128817	broad.mit.edu	37	20	23420929	23420929	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23420929C>T	ENST00000347397.1	+	2	271	c.25C>T	c.(25-27)Ccc>Tcc	p.P9S	CSTL1_ENST00000246020.2_Missense_Mutation_p.P9S|CSTL1_ENST00000472140.1_3'UTR	NM_138283.1	NP_612140.1	Q9H114	CST1L_HUMAN	cystatin-like 1	9						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(4)|skin(2)|stomach(1)	14	Colorectal(13;0.0993)|Lung NSC(19;0.235)					CTGGAGAAACCCCCTGCTGCT	0.552000													28	30					0	0	1	0	0
CCDC173	129881	broad.mit.edu	37	2	170518913	170518913	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170518913C>T	ENST00000447353.1	-	5	801	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001085447.1	NP_001078916.1			coiled-coil domain containing 173																		CATATTTTTTCCTTCTTTCCT	0.274000													26	13					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56320313	56320313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56320313C>T	ENST00000443188.1	-	5	2373	c.1663G>A	c.(1663-1665)Gaa>Aaa	p.E555K	NLRP11_ENST00000589824.2_Missense_Mutation_p.E555K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E555K|NLRP11_ENST00000360133.3_Missense_Mutation_p.E555K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E456K	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	555							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACAAATTCTTCTTCCCGATTC	0.428000													60	88					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124380692	124380692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124380692G>A	ENST00000368909.3	+	41	5123	c.5017G>A	c.(5017-5019)Gat>Aat	p.D1673N	DMBT1_ENST00000368956.2_Missense_Mutation_p.D1045N|DMBT1_ENST00000330163.4_Missense_Mutation_p.D1045N|DMBT1_ENST00000338354.3_Missense_Mutation_p.D1673N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D1663N|DMBT1_ENST00000368955.3_Missense_Mutation_p.D1663N|DMBT1_ENST00000359586.6_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1673	SRCR 13.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612000													121	179					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76491047	76491047	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76491047C>T	ENST00000389840.5	-	39	6118	c.5994G>A	c.(5992-5994)tcG>tcA	p.S1998S	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Silent_p.S2007S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACACCTGCTTCGAGAGCAGCT	0.597000													13	15					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936556	4936556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4936556G>A	ENST00000322013.3	-	1	366	c.338C>T	c.(337-339)tCc>tTc	p.S113F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTCGAGGAAGGAGAAGCAGTG	0.493000													9	18					0	0	1	0	0
FNBP4	23360	broad.mit.edu	37	11	47755579	47755579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47755579C>T	ENST00000263773.5	-	10	1696	c.1684G>A	c.(1684-1686)Gag>Aag	p.E562K	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	562										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						AGACTTACCTCAGTCTGTAAG	0.348000													5	15					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47730372	47730372	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:47730372G>A	ENST00000455779.1	+	30	3140	c.2955G>A	c.(2953-2955)caG>caA	p.Q985Q	PHKB_ENST00000299167.8_Silent_p.Q992Q|PHKB_ENST00000566044.1_Silent_p.Q985Q|PHKB_ENST00000323584.5_Silent_p.Q992Q			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	992					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				ATATTGACCAGCCACAGTACA	0.403000													3	14					0	0	1	0	0
SORBS1	10580	broad.mit.edu	37	10	97096790	97096790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:97096790G>A	ENST00000371247.2	-	30	3316	c.3127C>T	c.(3127-3129)Cgt>Tgt	p.R1043C	SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.R997C|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.R1043C			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1043					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		GGGGTGGGACGATCTGACCAA	0.562000													10	51					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137696876	137696876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137696876G>A	ENST00000371817.3	+	40	3584	c.3170G>A	c.(3169-3171)gGt>gAt	p.G1057D		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1057	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGATTACGTGGTTTCCCTGGG	0.622000													25	1					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12460848	12460848	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:12460848T>C	ENST00000242804.4	-	6	2133	c.1551A>G	c.(1549-1551)gaA>gaG	p.E517E	ZNF442_ENST00000438182.1_Silent_p.E448E	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ATGTTTTACATTCATAAGGTT	0.383000													43	40					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161119189	161119189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:161119189G>A	ENST00000523217.1	+	8	1281	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	GABRA6_ENST00000274545.5_Missense_Mutation_p.E357K	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	357					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGAACCTTTGGAAGCTGAGAT	0.398000										TCGA Ovarian(5;0.080)			41	19					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363573	56363573	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56363573C>A	ENST00000301295.6	+	2	549	c.127C>A	c.(127-129)Ccc>Acc	p.P43T	NLRP4_ENST00000346986.5_Missense_Mutation_p.P43T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	43	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CAAGCAGATTCCCTGGACTGA	0.413000													37	43					1.836e-18	1.85672e-18	1	1	0
HMGCS2	3158	broad.mit.edu	37	1	120301896	120301896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:120301896C>T	ENST00000369406.3	-	4	744	c.695G>A	c.(694-696)gGa>gAa	p.G232E	HMGCS2_ENST00000544913.2_Missense_Mutation_p.G190E|HMGCS2_ENST00000476640.1_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	232					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CATATGGGTTCCCCTCAGCCC	0.478000													270	170					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38885909	38885909	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:38885909C>T	ENST00000359357.3	+	68	10120	c.9866C>T	c.(9865-9867)cCt>cTt	p.P3289L	DNAH8_ENST00000449981.2_Missense_Mutation_p.P3506L|DNAH8_ENST00000441566.1_Missense_Mutation_p.P3253L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAGTGTTGCCTCTGAAGGTA	0.378000													8	33					0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24009368	24009368	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:24009368G>T	ENST00000312521.4	+	7	1716	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117.3	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	466					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						TTTTTAAGTGGAAAGAAATAT	0.368000													12	54					3.27435e-08	3.2906e-08	1	1	0
OGDHL	55753	broad.mit.edu	37	10	50954001	50954001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50954001C>T	ENST00000374103.4	-	11	1404	c.1319G>A	c.(1318-1320)cGa>cAa	p.R440Q	OGDHL_ENST00000419399.1_Missense_Mutation_p.R383Q|OGDHL_ENST00000432695.1_Missense_Mutation_p.R231Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	440					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCGGGCCATTCGGGGGTCTGT	0.557000													17	42					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51413195	51413195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:51413195G>A	ENST00000266037.9	+	51	5452	c.5429G>A	c.(5428-5430)cGa>cAa	p.R1810Q		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1810						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.R1810Q(2)|p.R1799Q(1)		breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AATTTCCAGCGAGCCCTGTTC	0.527000													26	75					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30704934	30704934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30704934C>T	ENST00000256246.2	-	1	1674	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	534								p.E534*(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTAGAAAATTCTTCAGAACTC	0.333000													6	54					0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144086593	144086593	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:144086593C>G	ENST00000427704.2	+	6	987	c.857C>G	c.(856-858)tCt>tGt	p.S286C	PHACTR2_ENST00000367582.3_Missense_Mutation_p.S217C|PHACTR2_ENST00000305766.6_Missense_Mutation_p.S206C|PHACTR2_ENST00000440869.2_Missense_Mutation_p.S297C|PHACTR2_ENST00000367584.4_Missense_Mutation_p.S274C	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	286							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		ACAACAACTTCTGGCACATCC	0.512000													18	17					0	0	1	0	0
MX2	4600	broad.mit.edu	37	21	42762578	42762578	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42762578G>A	ENST00000330714.3	+	6	1003	c.819G>A	c.(817-819)acG>acA	p.T273T	MX2_ENST00000543692.1_Intron|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	273					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTGCCACCACGGAGGCGCTGA	0.562000													60	70					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96956432	96956432	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:96956432T>C	ENST00000323853.5	-	19	2620	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	848	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTGCAGAATGTCCAGTGCTCC	0.507000													74	86					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96826964	96826964	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96826964C>T	ENST00000371270.3	-	3	576		c.e3+1		CYP2C8_ENST00000535898.1_Splice_Site|CYP2C8_ENST00000539050.1_Splice_Site	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8						exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	GAGTCACCCACCCTTGGTTTT	0.502000													31	100					0	0	1	0	0
CAPSL	133690	broad.mit.edu	37	5	35910561	35910561	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35910561G>A	ENST00000397367.2	-	3	348	c.222C>T	c.(220-222)gtC>gtT	p.V74V	CAPSL_ENST00000514524.1_Silent_p.V74V|CAPSL_ENST00000397366.1_Silent_p.V74V	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	74	EF-hand 1.					cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			CTTTTTCCATGACCACAGCAT	0.328000													41	48					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452388	138452388	+	Silent	SNP	G	G	A	rs62330470		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:138452388G>A	ENST00000344876.4	-	1	1241	c.855C>T	c.(853-855)ttC>ttT	p.F285F	PCDH18_ENST00000412923.2_Silent_p.F285F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Silent_p.F65F|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	285	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATGACTGCTGAAGGAATATA	0.388000													30	32					0	0	1	0	0
DTX2	113878	broad.mit.edu	37	7	76109952	76109952	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:76109952C>T	ENST00000324432.5	+	4	636	c.126C>T	c.(124-126)atC>atT	p.I42I	DTX2_ENST00000472426.1_3'UTR|DTX2_ENST00000430490.2_Silent_p.I42I|DTX2_ENST00000446820.2_Silent_p.I42I|DTX2_ENST00000446600.1_Intron|DTX2_ENST00000413936.2_Silent_p.I42I|DTX2_ENST00000307569.8_Silent_p.I42I	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex homolog 2 (Drosophila)	42	WWE 1.				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						GCAGCTTCATCGAGCAGCAGT	0.657000													15	33					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200747	155200747	+	Missense_Mutation	SNP	G	G	A	rs145911919		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:155200747G>A	ENST00000460012.1	-	23	3335	c.2978C>T	c.(2977-2979)gCt>gTt	p.A993V	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.A1031V|PLCH1_ENST00000334686.6_Missense_Mutation_p.A993V|PLCH1_ENST00000414191.1_Missense_Mutation_p.A993V|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1031					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTGGAGCAGAGCACTGGAGGA	0.453000													25	54					0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56819826	56819826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56819826G>A	ENST00000587834.1	+	3	728	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K	SEC11C_ENST00000588875.1_Missense_Mutation_p.E86K	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	86					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAATTTCCGGGAAGACCCAAT	0.438000													40	67					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	69366690	69366690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:69366690C>T	ENST00000433211.1	-	3	391	c.217G>A	c.(217-219)Gga>Aga	p.G73R	CTNNA3_ENST00000545309.1_Missense_Mutation_p.G73R|CTNNA3_ENST00000373744.4_Missense_Mutation_p.G73R	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	73					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						ATCTTCTCTCCCTTGTCTAAT	0.468000													23	35					0	0	1	0	0
JUN	3725	broad.mit.edu	37	1	59248101	59248101	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:59248101C>T	ENST00000371222.2	-	1	1684	c.642G>A	c.(640-642)caG>caA	p.Q214Q		NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	214					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GCACGGGCATCTGCTGGGGCA	0.741000			A		sarcoma								15	1					0	0	1	0	0
IGHD	3495	broad.mit.edu	37	14	106311855	106311855	+	RNA	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106311855T>C	ENST00000390556.2	-	0	155																											TCAGGGAAGGTTCTCTGGGGC	0.577000													18	55					0	0	1	0	0
RERGL	79785	broad.mit.edu	37	12	18234177	18234177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18234177G>A	ENST00000229002.2	-	6	772	c.566C>T	c.(565-567)tCa>tTa	p.S189L	RERGL_ENST00000538724.1_Missense_Mutation_p.S188L	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	189	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTTGGCCATTGATTTAGATCC	0.368000													15	24					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901264	51901264	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51901264C>T	ENST00000268919.4	+	1	1026	c.870C>T	c.(868-870)tcC>tcT	p.S290S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	290	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGTGGAGTCCATCTTCCGCA	0.567000													14	77					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46262129	46262129	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:46262129C>T	ENST00000336915.6	-	7	592	c.523G>A	c.(523-525)Gaa>Aaa	p.E175K	SKAP1_ENST00000584924.1_Missense_Mutation_p.E175K	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	175	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGCAGGATTCTTTCTTGGAA	0.527000													48	216					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327691	57327691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57327691G>A	ENST00000326441.9	-	10	2482	c.2119C>T	c.(2119-2121)Cat>Tat	p.H707Y	PEG3_ENST00000423103.2_Missense_Mutation_p.H707Y|PEG3_ENST00000593695.1_Missense_Mutation_p.H581Y|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.H583Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	707					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCGAGAATGAATTTTCTGA	0.433000													25	28					0	0	1	0	0
DDR1	780	broad.mit.edu	37	6	30863263	30863263	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:30863263C>T	ENST00000361741.4	+	7	902	c.707C>T	c.(706-708)cCg>cTg	p.P236L	DDR1_ENST00000376567.2_Intron|DDR1_ENST00000513240.1_Silent_p.P532P|DDR1_ENST00000376568.3_Silent_p.P532P|DDR1_ENST00000376570.4_Intron|DDR1_ENST00000508312.1_Intron|DDR1_ENST00000446312.1_Intron|DDR1_ENST00000376569.3_Intron|DDR1_ENST00000324771.8_Silent_p.P532P|DDR1_ENST00000452441.1_Silent_p.P532P|DDR1_ENST00000454612.2_Intron|DDR1_ENST00000376575.3_Silent_p.P532P|DDR1_ENST00000418800.2_Intron			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	559					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CCCCCACACCCGCCTGGGCCA	0.682000													24	119					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140788367	140788367	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140788367C>T	ENST00000520790.1	+	1	598	c.598C>T	c.(598-600)Cta>Tta	p.L200L	PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAAACTCCTAGACCGGGA	0.403000													5	15					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064875	7064875	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7064875C>T	ENST00000299481.4	+	4	1964	c.1618C>T	c.(1618-1620)Cga>Tga	p.R540*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	540					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAATGAAGATCGAGTAAAACA	0.348000													33	26					0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	40012487	40012487	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:40012487C>T	ENST00000308666.3	-	1	1066	c.931G>A	c.(931-933)Gga>Aga	p.G311R		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	311	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ACCTTATGTCCTCTGTAAAAG	0.428000													34	39					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61894074	61894074	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61894074C>T	ENST00000280772.1	-	25	2987	c.2796G>A	c.(2794-2796)cgG>cgA	p.R932R	ANK3_ENST00000503366.1_Silent_p.R933R|ANK3_ENST00000373827.2_Silent_p.R926R|ANK3_ENST00000355288.2_Silent_p.R66R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	932					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCATGCTGTCCCGTGCATAGG	0.408000													9	25					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431099	140431099	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140431099G>A	ENST00000306549.3	+	1	121	c.44G>A	c.(43-45)gGa>gAa	p.G15E		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		15					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCAAGTGGGATCTCTTCTC	0.498000													48	14					0	0	1	0	0
PROSER1	80209	broad.mit.edu	37	13	39588581	39588581	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:39588581G>A	ENST00000352251.3	-	11	1641	c.808C>T	c.(808-810)Cct>Tct	p.P270S	PROSER1_ENST00000350125.3_Missense_Mutation_p.P248S|PROSER1_ENST00000484434.2_Intron	NM_025138.3	NP_079414.3	Q86XN7	CM023_HUMAN	proline and serine rich 1	270	Pro-rich.																GAACCATGAGGAGAAAAGAGT	0.433000													23	11					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89082383	89082383	+	RNA	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:89082383A>G	ENST00000393525.3	+	0	517																											GCAAGTGACGAGAAAGATTCT	0.338000													5	34					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426373	116426373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:116426373G>A	ENST00000395715.3	-	7	4340	c.3763C>T	c.(3763-3765)Cct>Tct	p.P1255S	TRPS1_ENST00000220888.5_Missense_Mutation_p.P1242S|TRPS1_ENST00000520276.1_Missense_Mutation_p.P1246S|TRPS1_ENST00000519076.1_Missense_Mutation_p.P996S	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1242	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CACTGGAAAGGTCCACTGTCA	0.438000									Langer-Giedion syndrome				25	57					0	0	1	0	0
IARS2	55699	broad.mit.edu	37	1	220312371	220312371	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:220312371C>T	ENST00000366922.1	+	18	2312	c.1981C>T	c.(1981-1983)Ctt>Ttt	p.L661F	IARS2_ENST00000302637.5_Missense_Mutation_p.L733F			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	733					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ACTTCGCTTTCTTTTGGGAAA	0.343000													18	69					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845751	107845751	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:107845751C>T	ENST00000285311.3	-	3	1185	c.480G>A	c.(478-480)ttG>ttA	p.L160L	DKK2_ENST00000510463.1_Silent_p.L114L|DKK2_ENST00000513208.1_Silent_p.L60L	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	160					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTGCCATCCCAAGTCATGGT	0.423000													12	97					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985661	108985661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:108985661C>T	ENST00000392806.3	-	2	667	c.499G>A	c.(499-501)Gat>Aat	p.D167N		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	167						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CGGGAGGAATCCAGGGCTTCC	0.692000													12	60					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14108622	14108622	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:14108622C>T	ENST00000235372.7	+	8	5188	c.4332C>T	c.(4330-4332)gcC>gcT	p.A1444A	PRDM2_ENST00000311066.5_Silent_p.A1444A|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.A1243A|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.A1243A	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1444	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCAGAAGGCCGACTTGAAAA	0.393000													66	132					0	0	1	0	0
ACP2	53	broad.mit.edu	37	11	47264356	47264356	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47264356C>T	ENST00000256997.3	-	10	1172	c.1056G>A	c.(1054-1056)caG>caA	p.Q352Q	ACP2_ENST00000537863.1_Silent_p.Q165Q|ACP2_ENST00000527256.1_Silent_p.Q320Q|ACP2_ENST00000533929.1_Silent_p.Q324Q|ACP2_ENST00000529444.1_Silent_p.Q289Q|ACP2_ENST00000525230.1_5'UTR	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	352						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GAAGGAAGTCCTGCAGTGGGC	0.632000													14	83					0	0	1	0	0
PPME1	51400	broad.mit.edu	37	11	73950200	73950200	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:73950200G>A	ENST00000328257.8	+	9	1056	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	PPME1_ENST00000543525.1_Missense_Mutation_p.E58K|PPME1_ENST00000398427.4_Missense_Mutation_p.E245K|P4HA3_ENST00000540363.1_Intron			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1	245					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TACAAGTCCAGAAGGCTCAAA	0.373000													4	28					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934969	30934969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:30934969C>T	ENST00000355537.3	+	2	647	c.500C>T	c.(499-501)gCg>gTg	p.A167V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GACCACAGGGCGGCGCAGAAG	0.657000													6	29					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415316	77415316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77415316C>T	ENST00000451710.3	-	17	2329	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	TRPM6_ENST00000449912.2_Missense_Mutation_p.E693K|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.E698K|TRPM6_ENST00000361255.3_Missense_Mutation_p.E693K|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.E698K			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	698					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCCTGAGTTCATACGTCAAC	0.522000													31	8					0	0	1	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065136	63065136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63065136G>A	ENST00000544661.1	+	5	730	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	SLC22A10_ENST00000535888.1_Missense_Mutation_p.R46Q|SLC22A10_ENST00000332793.6_Missense_Mutation_p.R256Q|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_3'UTR			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	256						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATGTCTTCCGAGACTGGCAA	0.483000													24	75					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72347196	72347196	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:72347196C>T	ENST00000299687.5	+	1	4221	c.4221C>T	c.(4219-4221)tcC>tcT	p.S1407S	ZNF407_ENST00000577538.1_Silent_p.S1407S|ZNF407_ENST00000309902.6_Silent_p.S1407S|ZNF407_ENST00000582337.1_Silent_p.S1407S	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1407					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AGGGCAGTTCCATTGGTGAGT	0.458000													9	21					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69021713	69021713	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:69021713C>T	ENST00000288368.4	+	25	3278	c.3001C>T	c.(3001-3003)Ctg>Ttg	p.L1001L		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1001					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CCCTTCAGGTCTGTCTCTGGG	0.463000													17	40					0	0	1	0	0
PLEKHG6	55200	broad.mit.edu	37	12	6427490	6427490	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:6427490G>A	ENST00000449001.2	+	10	1577	c.1083G>A	c.(1081-1083)ctG>ctA	p.L361L	PLEKHG6_ENST00000396988.3_Silent_p.L393L|PLEKHG6_ENST00000536531.1_Silent_p.L393L|PLEKHG6_ENST00000011684.7_Silent_p.L393L	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	393					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						TCTCCACCCTGGACCTGACGT	0.652000													17	34					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10471727	10471727	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:10471727A>T	ENST00000355285.4	+	3	797	c.443A>T	c.(442-444)cAc>cTc	p.H148L	APCDD1_ENST00000578882.1_Missense_Mutation_p.H148L	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	148					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TACCAGCTGCACAACGTCCAG	0.642000													42	5					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129575	76129575	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:76129575G>A	ENST00000296677.4	+	2	1349	c.1143G>A	c.(1141-1143)agG>agA	p.R381R		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	381					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AACACTCCAGGAAATCCAGCT	0.463000													73	180					0	0	1	0	0
KCNIP4	80333	broad.mit.edu	37	4	21305491	21305491	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:21305491G>A	ENST00000382150.4	-	1	121	c.39C>T	c.(37-39)atC>atT	p.I13I	KCNIP4_ENST00000382152.2_Intron|KCNIP4_ENST00000509207.1_Intron|KCNIP4_ENST00000382148.3_Intron|KCNIP4_ENST00000447367.2_Intron	NM_147183.3	NP_671712.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	0	KIS (By similarity).					plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				GCACAATGACGATCAGAACTG	0.433000													9	14					0	0	1	0	0
DEFB110	245913	broad.mit.edu	37	6	49986775	49986775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49986775C>T	ENST00000371148.2	-	2	164	c.119G>A	c.(118-120)gGt>gAt	p.G40D	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	40					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTTACATTGACCATTACCTAT	0.383000													16	77					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160223	104160223	+	Missense_Mutation	SNP	G	G	A	rs148925092		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:104160223G>A	ENST00000414303.2	+	1	225	c.161G>A	c.(160-162)gGg>gAg	p.G54E		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	54					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GGATTTGGAGGGGTTCAGGTG	0.413000													112	23					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306742	54306742	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:54306742C>T	ENST00000545554.1	+	1	1642	c.1642C>T	c.(1642-1644)Cgt>Tgt	p.R548C	UNC13C_ENST00000260323.11_Missense_Mutation_p.R548C|UNC13C_ENST00000537900.1_Missense_Mutation_p.R548C			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	548					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TAAACTTAGTCGTTCTGAATC	0.388000													22	30					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615632	140615632	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140615632C>T	ENST00000526308.1	+	0	1695					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						CCCTCACCTCCCTGGTCTCCA	0.657000													44	132					0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47410319	47410319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:47410319G>A	ENST00000361866.3	+	13	1099	c.985G>A	c.(985-987)Ggg>Agg	p.G329R		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	329	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	TGGCATCGACGGGGTGGACGG	0.652000													23	21					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93606230	93606230	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:93606230T>A	ENST00000375754.4	+	2	198	c.50T>A	c.(49-51)tTc>tAc	p.F17Y	SYK_ENST00000375751.4_Missense_Mutation_p.F17Y|SYK_ENST00000375746.1_Missense_Mutation_p.F17Y|SYK_ENST00000375747.1_Missense_Mutation_p.F17Y|SYK_ENST00000476708.1_3'UTR	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	17	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CCCTTCTTTTTCGGCAACATC	0.627000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""								9	1					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30706440	30706440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30706440G>A	ENST00000256246.2	-	1	168	c.94C>T	c.(94-96)Cct>Tct	p.P32S	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	32										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTGTGAAGAGGAAAAGAAGCA	0.383000													33	55					0	0	1	0	0
SPOCK2	9806	broad.mit.edu	37	10	73822590	73822590	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:73822590C>T	ENST00000373109.2	-	11	1647	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	SPOCK2_ENST00000536168.1_Silent_p.E401E|SPOCK2_ENST00000317376.4_Silent_p.E401E	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	401	Glu-rich.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						cgcctgcttcctccgtctcct	0.672000													9	12					0	0	1	0	0
OR51A7	119687	broad.mit.edu	37	11	4929509	4929509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4929509G>A	ENST00000359350.4	+	1	910	c.910G>A	c.(910-912)Ggg>Agg	p.G304R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004749.1	NP_001004749.1	Q8NH64	O51A7_HUMAN	olfactory receptor, family 51, subfamily A, member 7	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGATCTTGGGGAAGTTGCT	0.398000													15	51					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75766337	75766337	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:75766337G>A	ENST00000370855.5	-	5	248	c.135C>T	c.(133-135)ttC>ttT	p.F45F	SLC44A5_ENST00000469525.1_5'UTR|SLC44A5_ENST00000370859.3_Silent_p.F45F|SLC44A5_ENST00000535611.1_5'UTR	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	45						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TACACAGTAGGAAGATCATAC	0.333000													32	30					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86590675	86590675	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:86590675C>T	ENST00000370571.2	-	3	1710	c.1344G>A	c.(1342-1344)agG>agA	p.R448R	COL24A1_ENST00000436319.1_Silent_p.R448R	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	448					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CACCTTCTTTCCTTAGATCAA	0.343000													13	13					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115891693	115891693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:115891693C>T	ENST00000264363.2	-	4	1792	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	372	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CAGAACTCATCCACAGACCGA	0.393000													4	41					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169694922	169694922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169694922G>A	ENST00000333360.7	-	13	1935	c.1796C>T	c.(1795-1797)tCa>tTa	p.S599L	SELE_ENST00000367774.1_Missense_Mutation_p.S473L|SELE_ENST00000367779.4_Missense_Mutation_p.S473L|SELE_ENST00000367775.1_Missense_Mutation_p.S474L|SELE_ENST00000367776.1_Missense_Mutation_p.S536L|SELE_ENST00000367782.4_Missense_Mutation_p.S536L|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.S536L|SELE_ENST00000367780.4_Missense_Mutation_p.S474L|SELE_ENST00000367777.1_Missense_Mutation_p.S536L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	599					actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTTCCATCTGATTCAAGGCT	0.388000													14	56					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109631489	109631489	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109631489C>T	ENST00000338432.7	+	16	2555	c.2436C>T	c.(2434-2436)ctC>ctT	p.L812L	ACACB_ENST00000377854.5_Silent_p.L812L|ACACB_ENST00000377848.3_Silent_p.L812L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	812					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TACTGAACCTCGTAGATGTGG	0.517000													11	49					0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43221841	43221841	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43221841C>T	ENST00000422911.1	-	25	3257	c.3156G>A	c.(3154-3156)tcG>tcA	p.S1052S	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000269844.3_Silent_p.S1361S|PRDM15_ENST00000447207.2_Silent_p.S995S|PRDM15_ENST00000538201.1_Silent_p.S1015S|PRDM15_ENST00000398548.1_Silent_p.S1032S			P57071	PRD15_HUMAN	PR domain containing 15	1361					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGACTGAGCTCGATGGTGTGG	0.542000													25	50					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47525183	47525183	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47525183G>A	ENST00000273859.3	+	4	909	c.640G>A	c.(640-642)Gga>Aga	p.G214R	ATP10D_ENST00000504445.1_Missense_Mutation_p.G214R	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	214					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TGGTCTTGATGGAGAGAGCAA	0.433000													12	42					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126369770	126369770	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126369770A>G	ENST00000394329.3	+	9	7612	c.7599A>G	c.(7597-7599)gaA>gaG	p.E2533E	FAT4_ENST00000335110.5_Silent_p.E831E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2533	Cadherin 24.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GAGCTTCAGAAGTGACATTTT	0.428000													45	28					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883992	228883992	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228883992C>T	ENST00000392056.3	-	7	1624	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	SPHKAP_ENST00000344657.5_Silent_p.S526S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	526						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGGGAAAGTTCGAGACCACTT	0.502000													15	11					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113208295	113208295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:113208295C>T	ENST00000401783.2	-	26	4621	c.4285G>A	c.(4285-4287)Gat>Aat	p.D1429N	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.D1429N|SVEP1_ENST00000374469.1_Missense_Mutation_p.D1406N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1429					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACTTCAAAATCCAGGTTAAAG	0.433000													18	2					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179430272	179430272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179430272C>T	ENST00000589042.1	-	326	80811	c.80587G>A	c.(80587-80589)Gat>Aat	p.D26863N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D24295N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D17798N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D17923N|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D17990N|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D25222N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25222	Fibronectin type-III 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTTGGATCGCTTTTTCCT	0.403000													33	87					0	0	1	0	0
COL8A2	1296	broad.mit.edu	37	1	36564462	36564462	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36564462G>A	ENST00000397799.1	-	4	1044	c.820C>T	c.(820-822)Cct>Tct	p.P274S	COL8A2_ENST00000303143.4_Missense_Mutation_p.P274S|COL8A2_ENST00000481785.1_Missense_Mutation_p.P209S			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	274	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACTCCAGGAGGTCCTTTTGGG	0.692000													14	1					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129704298	129704298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:129704298C>T	ENST00000421865.2	+	35	5040	c.4991C>T	c.(4990-4992)aCc>aTc	p.T1664I		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1664	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GGCGAGCAGACCGGACAGGAT	0.458000													14	21					0	0	1	0	0
THPO	7066	broad.mit.edu	37	3	184091292	184091292	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184091292C>T	ENST00000204615.7	-	5	521	c.307G>A	c.(307-309)Gga>Aga	p.G103R	THPO_ENST00000421442.2_Missense_Mutation_p.G103R|EIF2B5_ENST00000444495.1_Intron|THPO_ENST00000445696.2_Missense_Mutation_p.G103R	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	103					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAAGTGGGTCCCAGTTGTCCC	0.602000													8	31					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542620	55542620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55542620G>A	ENST00000220676.1	+	4	6326	c.6178G>A	c.(6178-6180)Gaa>Aaa	p.E2060K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	2060					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAGACAAATGAAATCTTTAA	0.348000													9	22					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23886827	23886827	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23886827G>A	ENST00000355349.3	-	31	4400	c.4238C>T	c.(4237-4239)tCg>tTg	p.S1413L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1413					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CTTCTCCAGCGAGGAGCACTT	0.617000													37	47					0	0	1	0	0
TRIM16L	147166	broad.mit.edu	37	17	18635409	18635409	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18635409C>T	ENST00000449552.2	+	6	1909	c.425C>T	c.(424-426)tCc>tTc	p.S142F	TRIM16L_ENST00000395672.2_Missense_Mutation_p.S142F|TRIM16L_ENST00000571708.1_Missense_Mutation_p.S142F|TRIM16L_ENST00000572555.1_Missense_Mutation_p.S142F|TRIM16L_ENST00000395902.3_Missense_Mutation_p.S196F|TRIM16L_ENST00000395671.4_Missense_Mutation_p.S142F|TRIM16L_ENST00000414850.2_Intron			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	142	B30.2/SPRY.					cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TATTGGACTTCCAAACCTGAG	0.478000													50	36					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64023201	64023201	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64023201C>T	ENST00000540288.1	+	8	709	c.606C>T	c.(604-606)tcC>tcT	p.S202S	PLCB3_ENST00000279230.6_Silent_p.S202S|PLCB3_ENST00000325234.5_Silent_p.S135S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	202					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGAGTGAGTCCATCCGGCCTG	0.617000													29	98					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039377	31039377	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31039377G>A	ENST00000355537.3	+	4	2998	c.2851G>A	c.(2851-2853)Gga>Aga	p.G951R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAAGTCCACGGAGTGGATGG	0.532000													33	86					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814907	174814907	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:174814907A>G	ENST00000454872.1	+	2	499	c.371A>G	c.(370-372)cAc>cGc	p.H124R	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	124					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AACTTTTGCCACGTCTTAAAA	0.383000													65	52					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344628	50344628	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50344628C>T	ENST00000199280.3	+	1	100	c.15C>T	c.(13-15)cgC>cgT	p.R5R		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	5					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGGAGCTCCGCTCCATAGCCT	0.637000													35	42					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018758	58018758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58018758G>A	ENST00000320442.4	+	10	1648	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	446	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCGGAGAAGGAGAAAAGGTG	0.592000													59	68					0	0	1	0	0
ITGA5	3678	broad.mit.edu	37	12	54801929	54801929	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54801929C>G	ENST00000293379.4	-	7	1043	c.782G>C	c.(781-783)cGc>cCc	p.R261P	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	261					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						ACTGGCCTGGCGAGTCTGCAG	0.562000													31	47					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196438156	196438156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196438156C>T	ENST00000367433.5	-	6	528	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.E143K|KCNT2_ENST00000294725.8_Missense_Mutation_p.E143K			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	143						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTAATTATTTCCAAGATGAAG	0.313000													5	26					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	169099072	169099072	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169099072C>T	ENST00000494292.1	-	2	375	c.278G>A	c.(277-279)gGa>gAa	p.G93E	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	93							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						GGTCCATATTCCTAGTCCTGC	0.483000													23	72					0	0	1	0	0
CD22	933	broad.mit.edu	37	19	35832794	35832794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:35832794C>T	ENST00000085219.5	+	9	2027	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	CD22_ENST00000270311.6_Missense_Mutation_p.S534L|CD22_ENST00000341773.6_Missense_Mutation_p.S477L|CD22_ENST00000536635.2_Missense_Mutation_p.S566L|CD22_ENST00000544992.2_Missense_Mutation_p.S654L|CD22_ENST00000419549.2_Missense_Mutation_p.S482L|CD22_ENST00000594250.1_Missense_Mutation_p.S477L	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	654	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTCCAGCACTCGGGTGCCTAC	0.587000													31	37					0	0	1	0	0
PNPLA3	80339	broad.mit.edu	37	22	44328960	44328960	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:44328960A>G	ENST00000216180.3	+	4	862	c.689A>G	c.(688-690)gAt>gGt	p.D230G	PNPLA3_ENST00000478713.1_3'UTR|PNPLA3_ENST00000423180.2_Missense_Mutation_p.D226G	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	230					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				GTCCCCCCGGATCTCAAGGTG	0.542000													35	28					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42813676	42813676	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42813676G>A	ENST00000398600.2	+	12	1789	c.764G>A	c.(763-765)gGa>gAa	p.G255E	MX1_ENST00000288383.6_Missense_Mutation_p.G232E|AP001610.5_ENST00000411427.1_RNA|MX1_ENST00000455164.2_Missense_Mutation_p.G255E|MX1_ENST00000398598.3_Missense_Mutation_p.G255E	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	255					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GTGGACAAAGGAACTGAAGAC	0.542000													21	81					0	0	1	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32101679	32101679	+	Missense_Mutation	SNP	C	C	T	rs146011999	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:32101679C>T	ENST00000375250.5	-	13	2058	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R584Q|ARHGAP12_ENST00000492028.1_5'UTR|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R631Q|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R636Q|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R584Q	NM_001270696.1	NP_001257625.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	636					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R636L(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				AGTGGGGCGTCGTGTAAGAAA	0.338000													14	63					0	0	1	0	0
SPPL2C	162540	broad.mit.edu	37	17	43924053	43924053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:43924053C>T	ENST00000329196.5	+	1	1798	c.1781C>T	c.(1780-1782)cCa>cTa	p.P594L	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	594						integral to membrane	aspartic-type endopeptidase activity										GCCACCAATCCAGAGGACCGC	0.582000													19	101					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735624	76735624	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:76735624C>T	ENST00000287239.4	+	8	2018	c.1529C>T	c.(1528-1530)tCc>tTc	p.S510F	KAT6B_ENST00000372725.1_Intron|KAT6B_ENST00000372714.1_Intron|KAT6B_ENST00000372711.1_Intron|KAT6B_ENST00000372724.1_Intron	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	510	Negatively regulates HAT activity.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										TCACAAAAGTCCAGCACGGCC	0.562000													34	38					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8471043	8471043	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:8471043C>T	ENST00000381196.4	-	28	3999	c.3456G>A	c.(3454-3456)ggG>ggA	p.G1152G	PTPRD_ENST00000358503.5_Silent_p.G1130G|PTPRD_ENST00000537002.1_Silent_p.G738G|PTPRD_ENST00000360074.4_Silent_p.G1139G|PTPRD_ENST00000397606.3_Silent_p.G731G|PTPRD_ENST00000540109.1_Silent_p.G1152G|PTPRD_ENST00000355233.5_Silent_p.G741G|PTPRD_ENST00000397617.3_Silent_p.G731G|PTPRD_ENST00000356435.5_Silent_p.G1152G|PTPRD_ENST00000486161.1_Silent_p.G741G|PTPRD_ENST00000397611.3_Silent_p.G738G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1152					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGATAAATTTCCCGCGAGATT	0.368000										TSP Lung(15;0.13)			18	28					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389234	140389234	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140389234C>T	ENST00000532602.1	+	4	3598	c.2565C>T	c.(2563-2565)tcC>tcT	p.S855S	PCDHA6_ENST00000527624.1_Silent_p.S591S|PCDHA7_ENST00000525929.1_Silent_p.S842S|PCDHA10_ENST00000506939.2_Silent_p.S590S|PCDHA1_ENST00000504120.2_Silent_p.S855S|PCDHAC2_ENST00000289269.5_Silent_p.S912S|PCDHA6_ENST00000529310.1_Silent_p.S855S|PCDHA13_ENST00000409494.1_Silent_p.S855S|PCDHA3_ENST00000522353.2_Silent_p.S855S|PCDHAC1_ENST00000253807.2_Silent_p.S868S|PCDHA11_ENST00000398640.2_Silent_p.S854S|PCDHA2_ENST00000526136.1_Silent_p.S853S|PCDHA5_ENST00000529619.1_Silent_p.S841S|PCDHA4_ENST00000530339.1_Silent_p.S852S|PCDHA5_ENST00000529859.1_Silent_p.S841S|PCDHA13_ENST00000289272.2_Silent_p.S855S|PCDHA10_ENST00000307360.5_Silent_p.S853S|PCDHA4_ENST00000512229.2_Silent_p.S852S|PCDHA1_ENST00000394633.3_Silent_p.S591S|PCDHA12_ENST00000398631.2_Silent_p.S846S|PCDHA8_ENST00000531613.1_Silent_p.S855S	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGAAGTGTCCCCTCCAGTCG	0.507000													21	73					0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140552966	140552966	+	Missense_Mutation	SNP	G	G	A	rs146757937		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140552966G>A	ENST00000231137.3	+	1	724	c.550G>A	c.(550-552)Gat>Aat	p.D184N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGTCCATGATAGCGGGGA	0.478000													12	47					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121958354	121958354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:121958354G>A	ENST00000379692.4	-	4	1298	c.772C>T	c.(772-774)Cct>Tct	p.P258S	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	258										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTATCAGAAGGAAATCCAAAG	0.468000													27	41					0	0	1	0	0
CDC5L	988	broad.mit.edu	37	6	44413592	44413592	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:44413592C>T	ENST00000371477.3	+	15	2591	c.2292C>T	c.(2290-2292)ccC>ccT	p.P764P		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	764	Interaction with PLRG1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCTATTCCCCGGAGGCTAG	0.393000													35	45					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850171	71850171	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71850171A>G	ENST00000445078.2	+	3	526	c.455A>G	c.(454-456)aAc>aGc	p.N152S	FOLR3_ENST00000456237.1_Missense_Mutation_p.N154S|FOLR3_ENST00000442948.2_Missense_Mutation_p.N111S			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	110					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	TGCTCACCCAACCTGGGGCCC	0.582000													9	35					0	0	1	0	0
KCNJ12	3768	broad.mit.edu	37	17	21319528	21319528	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:21319528G>A	ENST00000583088.1	+	3	1769	c.874G>A	c.(874-876)Gac>Aac	p.D292N	KCNJ12_ENST00000331718.5_Missense_Mutation_p.D292N	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.D292N(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGAGACGGACGACTTTGAGAT	0.612000										Prostate(3;0.18)			13	91					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73923614	73923614	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73923614C>T	ENST00000586717.1	-	8	629		c.e8-1		FBF1_ENST00000319129.5_Splice_Site|FBF1_ENST00000389570.4_Splice_Site			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1											large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						ATGGCACCCCCTGCAGGAAGC	0.572000													5	9					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176681065	176681065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176681065G>A	ENST00000367662.3	+	12	4910	c.3746G>A	c.(3745-3747)aGg>aAg	p.R1249K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1249					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CAGGATGACAGGAGTGAACAG	0.453000													47	42					0	0	1	0	0
OR2AE1	81392	broad.mit.edu	37	7	99473783	99473783	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99473783G>A	ENST00000316368.2	-	1	897	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TCTTTATTCCGGAGAGTATAA	0.463000													60	52					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106960879	106960879	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:106960879G>A	ENST00000369701.3	+	16	2356	c.2127_splice	c.e16-1	p.G710_splice	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	710						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTCTCTAAGGGAGAGCCTTGT	0.438000													13	22					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140515225	140515225	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140515225G>A	ENST00000231134.5	+	1	426	c.209G>A	c.(208-210)gGa>gAa	p.G70E		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		70	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATTACAAAGGAAACAAAGAG	0.507000													27	91					0	0	1	0	0
OR4M1	441670	broad.mit.edu	37	14	20249051	20249051	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20249051C>T	ENST00000315957.4	+	1	651	c.570C>T	c.(568-570)gcC>gcT	p.A190A		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCCTGTGCCAACACCTTCC	0.473000													84	181					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149524869	149524869	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149524869G>A	ENST00000378016.2	+	0	14780							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGCCCCCTGGGGAAACGTGG	0.632000													3	15					0	0	1	0	0
IRF5	3663	broad.mit.edu	37	7	128585918	128585918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:128585918G>A	ENST00000402030.2	+	3	287	c.215G>A	c.(214-216)gGg>gAg	p.G72E	IRF5_ENST00000357234.5_Missense_Mutation_p.G72E|IRF5_ENST00000249375.4_Missense_Mutation_p.G72E|IRF5_ENST00000473745.1_Missense_Mutation_p.G72E|IRF5_ENST00000477535.1_Missense_Mutation_p.G72E	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	72					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						AAGGAGACAGGGAAATACACC	0.602000													12	24					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158596668	158596668	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158596668C>T	ENST00000368148.3	-	41	5974	c.5794G>A	c.(5794-5796)Gaa>Aaa	p.E1932K	SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.E1929K	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1932					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTTGAATTCCTGAAAGGCA	0.453000													79	124					0	0	1	0	0
GOLGA6A	342096	broad.mit.edu	37	15	74368317	74368317	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:74368317A>G	ENST00000290438.3	-	8	614	c.574T>C	c.(574-576)Tgc>Cgc	p.C192R		NM_001038640.2	NP_001033729.2	Q9NYA3	GOG6A_HUMAN	golgin A6 family, member A	192										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GCTTCTCTGCAGCTCGAGGAC	0.552000													17	144					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228525032	228525032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228525032C>T	ENST00000570156.2	+	77	19693	c.19619C>T	c.(19618-19620)tCc>tTc	p.S6540F	OBSCN_ENST00000366709.4_Missense_Mutation_p.S2702F|OBSCN_ENST00000284548.11_Missense_Mutation_p.S5583F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S3217F|OBSCN_ENST00000422127.1_Missense_Mutation_p.S5583F	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5583	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCATCCTCCAGCATCCAG	0.662000													10	6					0	0	1	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209188919	209188919	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:209188919C>T	ENST00000264380.4	+	18	2402	c.2244C>T	c.(2242-2244)acC>acT	p.T748T		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	748					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTCGACCCACCTTGGTTCTTG	0.373000													19	37					0	0	1	0	0
FRMPD3	84443	broad.mit.edu	37	X	106843663	106843663	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:106843663C>T	ENST00000276185.4	+	16	2493	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	831						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						CCACCTACTTCCTGGCCCAGC	0.567000													17	17					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120782129	120782129	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:120782129C>T	ENST00000310396.5	+	16	2456	c.1989C>T	c.(1987-1989)acC>acT	p.T663T	CPED1_ENST00000450913.2_Silent_p.T663T|CPED1_ENST00000423795.1_Silent_p.T443T	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		ACAAACTCACCATCTATAGAG	0.453000													30	75					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20762657	20762657	+	Missense_Mutation	SNP	G	G	A	rs139378066		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20762657G>A	ENST00000404938.2	+	21	3092	c.2440G>A	c.(2440-2442)Ggc>Agc	p.G814S	ABCB5_ENST00000258738.6_Missense_Mutation_p.G369S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	369					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCCAGGATTGGCGTCTTAAC	0.358000													12	96					0	0	1	0	0
POSTN	10631	broad.mit.edu	37	13	38144719	38144719	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:38144719G>C	ENST00000379747.4	-	19	2384	c.2267C>G	c.(2266-2268)aCa>aGa	p.T756R	POSTN_ENST00000379743.4_Missense_Mutation_p.T729R|POSTN_ENST00000497145.1_5'UTR|POSTN_ENST00000541481.1_Intron|POSTN_ENST00000379749.4_Missense_Mutation_p.T756R|POSTN_ENST00000541179.1_Missense_Mutation_p.T729R|POSTN_ENST00000379742.4_Missense_Mutation_p.T699R	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	756					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ATGGCTACCTGTAATGATTCG	0.323000													29	22					0	0	1	0	0
FAM9A	171482	broad.mit.edu	37	X	8766516	8766516	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:8766516C>T	ENST00000543214.1	-	4	360	c.225G>A	c.(223-225)aaG>aaA	p.K75K	FAM9A_ENST00000381003.3_Silent_p.K75K	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	75						nucleolus		p.K75N(1)		endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GGACTGGATCCTTTCCTGCAT	0.383000													56	4					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20739682	20739682	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20739682G>A	ENST00000404938.2	+	19	2913	c.2259_splice	c.e19-1	p.G754_splice	ABCB5_ENST00000258738.6_Splice_Site_p.G309_splice	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	309	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GCTTTTCAGGGATTATTTTAC	0.313000													17	72					0	0	1	0	0
TES	26136	broad.mit.edu	37	7	115889214	115889214	+	Missense_Mutation	SNP	C	C	T	rs78197118	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:115889214C>T	ENST00000358204.4	+	3	469	c.254C>T	c.(253-255)cCc>cTc	p.P85L	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_Intron|TES_ENST00000485009.1_3'UTR|TES_ENST00000393481.2_Missense_Mutation_p.P76L|AC073130.3_ENST00000444244.1_RNA	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	85					negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GATGGAATTCCCATGTATAAA	0.413000													17	49					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43494147	43494147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43494147G>A	ENST00000300215.3	-	12	2355	c.1898C>T	c.(1897-1899)cCc>cTc	p.P633L	EPB42_ENST00000540029.1_Missense_Mutation_p.P525L|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000441366.2_Missense_Mutation_p.P603L			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	603					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGCTGTGAGGGGTTGATACTG	0.577000													20	60					0	0	1	0	0
ZFP41	286128	broad.mit.edu	37	8	144332511	144332511	+	Silent	SNP	C	C	T	rs139798965	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144332511C>T	ENST00000330701.4	+	2	867	c.498C>T	c.(496-498)acC>acT	p.T166T	ZFP41_ENST00000520584.1_Silent_p.T166T|ZFP41_ENST00000522452.1_Silent_p.T166T	NM_173832.3	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	166					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGACGCACACCGGGGAGAAGC	0.572000													40	64					0	0	1	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767737	143767737	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:143767737C>A	ENST00000419275.1	-	1	144	c.112G>T	c.(112-114)Gct>Tct	p.A38S		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	38	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						GTGCTCAGAGCACGAAAGTTT	0.468000													71	241					4.18771e-30	4.24754e-30	1	1	0
BUB1B	701	broad.mit.edu	37	15	40494625	40494625	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:40494625C>T	ENST00000287598.6	+	13	1782	c.1587C>T	c.(1585-1587)tcC>tcT	p.S529S	BUB1B_ENST00000412359.3_Silent_p.S543S	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	529					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TACCTTTCTCCATTTTTGATG	0.284000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				17	24					0	0	1	0	0
CCNK	8812	broad.mit.edu	37	14	99961966	99961966	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:99961966G>A	ENST00000389879.5	+	4	534	c.411_splice	c.e4+1	p.K137_splice	CCNK_ENST00000555049.1_Splice_Site_p.K137_splice|CCNK_ENST00000557165.1_3'UTR	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	137					cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATGACCCAAAGGTAAGAATGA	0.383000													33	137					0	0	1	0	0
NACA2	342538	broad.mit.edu	37	17	59668299	59668299	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:59668299G>A	ENST00000521764.1	-	1	264	c.243C>T	c.(241-243)tcC>tcT	p.S81S		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	81	NAC-A/B.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					GACCCAGTTTGGACATAGCCT	0.458000													61	255					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784826	140784826	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140784826C>T	ENST00000573521.1	+	1	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTCCCCCAGC	0.502000													74	40					0	0	1	0	0
SCUBE3	222663	broad.mit.edu	37	6	35207537	35207537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35207537G>A	ENST00000274938.7	+	8	838	c.838G>A	c.(838-840)Gag>Aag	p.E280K	SCUBE3_ENST00000394681.1_Missense_Mutation_p.E296K	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	280	EGF-like 7; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGATATAGATGAGTGCCGCTT	0.453000													29	118					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	428123	428123	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:428123G>A	ENST00000332826.6	-	15	1383	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	433						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAGAGACGAGAAATGGGTGA	0.582000													39	63					0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5485271	5485271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5485271C>T	ENST00000345221.3	-	3	1114	c.560G>A	c.(559-561)gGa>gAa	p.G187E	NLRP1_ENST00000572272.1_Missense_Mutation_p.G187E|NLRP1_ENST00000577119.1_Missense_Mutation_p.G187E|NLRP1_ENST00000262467.5_Missense_Mutation_p.G187E|NLRP1_ENST00000269280.4_Missense_Mutation_p.G187E|NLRP1_ENST00000354411.3_Missense_Mutation_p.G187E|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	187					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGTGGGGATCCCCAGCTCCC	0.597000													22	58					0	0	1	0	0
CEACAM18	729767	broad.mit.edu	37	19	51986440	51986440	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51986440G>A	ENST00000396477.4	+	4	864	c.843G>A	c.(841-843)atG>atA	p.M281I	CEACAM18_ENST00000451626.1_Missense_Mutation_p.M342I	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	342						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ATGCAAAGATGAACCTCTCGA	0.527000													25	89					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996083	140996083	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140996083C>T	ENST00000285879.4	+	4	3179	c.2893C>T	c.(2893-2895)Ctg>Ttg	p.L965L	MAGEC1_ENST00000406005.2_Silent_p.L32L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	965	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCATTTCCCTGAGAGAAGT	0.498000										HNSCC(15;0.026)			78	56					0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285375	220285375	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:220285375G>A	ENST00000373960.3	+	4	980	c.894G>A	c.(892-894)tcG>tcA	p.S298S		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	298	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGTACAAGTCGAAGGTGGGTG	0.602000													10	44					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170151129	170151129	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170151129G>A	ENST00000263816.3	-	5	804	c.519C>T	c.(517-519)tcC>tcT	p.S173S	LRP2_ENST00000443831.1_Silent_p.S173S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	173	LDL-receptor class A 4.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTCATCTGAGGAGTCCCTGC	0.428000													14	36					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977857	71977857	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:71977857C>T	ENST00000266674.5	+	18	2378	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	LGR5_ENST00000540815.2_Silent_p.A665A|LGR5_ENST00000536515.1_Silent_p.A617A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	689						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCTCTGTGCCCTGCTGGCCT	0.547000													258	278					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233190031	233190031	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233190031C>T	ENST00000258229.8	-	25	4568	c.4334G>A	c.(4333-4335)cGa>cAa	p.R1445Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R97Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1445						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCCAGTCCTCGAAGTTGAAA	0.388000													14	21					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10247409	10247409	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10247409G>A	ENST00000418404.3	-	15	1765	c.1602C>T	c.(1600-1602)tcC>tcT	p.S534S	MYH13_ENST00000570743.1_Silent_p.S534S|MYH13_ENST00000252172.4_Silent_p.S534S			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	534	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCCAGGATGGAGAAGATGC	0.458000													64	29					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155205541	155205541	+	Missense_Mutation	SNP	G	G	A	rs80356768		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155205541G>A	ENST00000428024.2	-	8	1560	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	GBA_ENST00000536770.1_Missense_Mutation_p.P327L|GBA_ENST00000368373.3_Missense_Mutation_p.P440L|GBA_ENST00000427500.2_Missense_Mutation_p.P391L|GBA_ENST00000327247.5_Missense_Mutation_p.P440L	NM_001171811.1	NP_001165282.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	440					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TACAATGATGGGACTGTCGAC	0.552000									Gaucher disease type I				31	16					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86905967	86905967	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:86905967C>T	ENST00000370565.4	+	8	1502	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	447	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GCCCTGGGTTCATCTGCAGCC	0.423000													19	29					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	120053608	120053608	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:120053608C>T	ENST00000313400.4	-	2	727	c.627G>A	c.(625-627)gtG>gtA	p.V209V	ASTN2_ENST00000361209.2_Silent_p.V209V|ASTN2_ENST00000373996.3_Silent_p.V209V|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	209						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACTCACCATCACAGAAATGT	0.627000													13	14					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58917345	58917345	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:58917345C>T	ENST00000423743.3	+	9	1136	c.878C>T	c.(877-879)cCt>cTt	p.P293L	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P337L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P390L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P322L	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	337								p.P337L(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGAAATCTCCTTTGGAGACA	0.323000													13	24					0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57529426	57529426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:57529426C>T	ENST00000420713.1	+	4	1371	c.1259C>T	c.(1258-1260)tCc>tTc	p.S420F		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						TTTAACTGCTCCTCAACCCTT	0.388000													9	13					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738420	135738420	+	Silent	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135738420T>A	ENST00000375845.3	-	9	3921	c.3891A>T	c.(3889-3891)gcA>gcT	p.A1297A	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Silent_p.A431A|MAP3K19_ENST00000392917.3_Silent_p.A429A|MAP3K19_ENST00000358371.4_Silent_p.A1184A|MAP3K19_ENST00000315513.3_Silent_p.A158A|MAP3K19_ENST00000375844.3_Silent_p.A479A	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAAAGTCTGCTGCATTTTCTG	0.512000													7	21					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53272436	53272436	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:53272436C>T	ENST00000566029.1	+	12	3024	c.2815C>T	c.(2815-2817)Cat>Tat	p.H939Y	CHD9_ENST00000398510.3_Missense_Mutation_p.H939Y|CHD9_ENST00000564845.1_Missense_Mutation_p.H939Y|CHD9_ENST00000447540.1_Missense_Mutation_p.H939Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	939	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGTGGTTTATCATGGGAGCCT	0.388000													43	55					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30975938	30975938	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:30975938C>T	ENST00000295055.8	-	10	1244	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	CAPN13_ENST00000534090.2_Silent_p.V356V	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	356					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCCTAGAATCACTTGCTTCC	0.493000													61	386					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29983653	29983653	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:29983653G>A	ENST00000426154.1	-	4	660	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	SCRN1_ENST00000242059.5_Missense_Mutation_p.R162C|SCRN1_ENST00000416113.2_Missense_Mutation_p.R53C|SCRN1_ENST00000409497.1_Missense_Mutation_p.R162C	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	162					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTTCATCACGATCCACAATC	0.498000													82	58					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113562829	113562829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:113562829G>A	ENST00000416899.2	+	13	2273	c.2147G>A	c.(2146-2148)cGa>cAa	p.R716Q	MUSK_ENST00000189978.5_Missense_Mutation_p.R724Q|MUSK_ENST00000374448.4_Missense_Mutation_p.R724Q			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	724	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTTGTTCACCGAGATTTAGCC	0.552000													47	66					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905442	129905442	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129905442A>G	ENST00000368654.3	-	13	5037	c.4662T>C	c.(4660-4662)ttT>ttC	p.F1554F	MKI67_ENST00000368653.3_Silent_p.F1194F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1554	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGTTCCCATAAATGCGTAGA	0.483000													139	68					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511759	61511759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61511759C>T	ENST00000266070.4	-	16	5874	c.5549G>A	c.(5548-5550)gGg>gAg	p.G1850E	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1850E	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1850	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCTCTTCTCCCCATGGGGATC	0.607000													76	82					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10973731	10973731	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10973731C>T	ENST00000298232.7	-	4	370	c.3G>A	c.(1-3)atG>atA	p.M1I	TPTE_ENST00000342420.5_Start_Codon_SNP_p.M1I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Start_Codon_SNP_p.M1I	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	1					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCTTTCATTCATACGTGCCT	0.368000													10	49					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108147647	108147647	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108147647T>G	ENST00000273353.3	-	28	3510	c.3454A>C	c.(3454-3456)Acc>Ccc	p.T1152P		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1152						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGGTCTTGGGTGAGGTCAGCT	0.443000													24	92					0	0	1	0	0
ATP6V0D2	245972	broad.mit.edu	37	8	87151852	87151852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:87151852G>A	ENST00000285393.3	+	3	611	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	157					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						CATTCTGATCGAAACGCCATT	0.418000													44	23					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47298352	47298352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47298352C>T	ENST00000342922.4	+	5	1390	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	MADD_ENST00000395336.3_Missense_Mutation_p.P345S|MADD_ENST00000311027.5_Missense_Mutation_p.P345S|MADD_ENST00000402799.1_Missense_Mutation_p.P345S|MADD_ENST00000406482.1_Missense_Mutation_p.P345S|MADD_ENST00000349238.3_Missense_Mutation_p.P345S|MADD_ENST00000402192.2_Missense_Mutation_p.P345S|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000407859.3_Missense_Mutation_p.P345S|MADD_ENST00000395344.3_Missense_Mutation_p.P345S	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	345	DENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AATGATCTACCCACTGGAGTA	0.527000													33	59					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92159533	92159533	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:92159533G>A	ENST00000256343.3	-	9	924	c.768C>T	c.(766-768)atC>atT	p.I256I		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	256					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				AAGAGGTGAGGATAACTAAAA	0.328000													38	65					0	0	1	0	0
PTK6	5753	broad.mit.edu	37	20	62161533	62161533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62161533G>A	ENST00000217185.2	-	7	1093	c.1066C>T	c.(1066-1068)Cct>Tct	p.P356S	PTK6_ENST00000542869.1_Missense_Mutation_p.P255S	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	356	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGCGCTTCAGGGGCCGTCCAC	0.607000													10	95					0	0	1	0	0
ZNF98	148198	broad.mit.edu	37	19	22574744	22574744	+	Silent	SNP	C	C	T	rs74170714		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22574744C>T	ENST00000357774.5	-	4	1414	c.1293G>A	c.(1291-1293)gaG>gaA	p.E431E		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TGTAGGGCTTCTCTCCAGTAT	0.378000													5	6					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283351	152283351	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152283351G>A	ENST00000368799.1	-	3	4046	c.4011C>T	c.(4009-4011)tcC>tcT	p.S1337S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1337	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCATGAGAGGAAGACTCTG	0.547000									Ichthyosis				168	271					0	0	1	0	0
ENPP5	59084	broad.mit.edu	37	6	46135438	46135438	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46135438C>T	ENST00000371383.2	-	3	822	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	ENPP5_ENST00000230565.3_Missense_Mutation_p.E188K			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	188						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TCAGGGTCTTCCCAATAGAGA	0.413000													34	50					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105410526	105410526	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105410526C>T	ENST00000333244.5	-	7	11381	c.11262G>A	c.(11260-11262)aaG>aaA	p.K3754K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3754						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGACTTCCGCCTTGGAGACTT	0.607000													52	159					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72299516	72299516	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:72299516G>A	ENST00000263563.6	+	15	2174	c.1906G>A	c.(1906-1908)Gag>Aag	p.E636K		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		CCCCCGAGAGGAGGTGAGGGT	0.657000													21	15					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	3					2.56e-06	2.56846e-06	1	1	0
ACKR3	57007	broad.mit.edu	37	2	237489334	237489334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:237489334G>A	ENST00000272928.3	+	2	536	c.226G>A	c.(226-228)Ggc>Agc	p.G76S		NM_020311.2	NP_064707.1			atypical chemokine receptor 3																		CAAGACCACAGGCTATGACAC	0.537000													14	15					0	0	1	0	0
DHX33	56919	broad.mit.edu	37	17	5353685	5353685	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5353685G>A	ENST00000225296.3	-	10	1766	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	DHX33_ENST00000433302.3_Silent_p.I298I	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	522						nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAATGGTCAGGATCTCCTCTG	0.502000													39	139					0	0	1	0	0
KIAA2018	205717	broad.mit.edu	37	3	113374804	113374804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:113374804G>A	ENST00000316407.4	-	7	6135	c.5725C>T	c.(5725-5727)Cga>Tga	p.R1909*	KIAA2018_ENST00000478658.1_Nonsense_Mutation_p.R1909*|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1909					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CTTGTGTTTCGACCTTGAATA	0.448000													14	38					0	0	1	0	0
CAGE1	285782	broad.mit.edu	37	6	7373615	7373615	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:7373615G>A	ENST00000502583.1	-	5	2001	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	CAGE1_ENST00000338150.4_Silent_p.A479A|CAGE1_ENST00000512086.1_Silent_p.A479A|CAGE1_ENST00000296742.7_Silent_p.A343A|CAGE1_ENST00000379918.4_Silent_p.A479A	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	479										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTTGTTCTTGGGCCTCTTTTT	0.403000													10	36					0	0	1	0	0
CEND1	51286	broad.mit.edu	37	11	788242	788242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:788242C>T	ENST00000330106.4	-	2	510	c.335G>A	c.(334-336)gGg>gAg	p.G112E	CEND1_ENST00000524587.1_5'UTR	NM_016564.3	NP_057648.2	Q8N111	CEND_HUMAN	cell cycle exit and neuronal differentiation 1	112						integral to membrane				prostate(1)	1		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCGGCCCCCAGGCCCCCC	0.692000													6	24					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57431583	57431583	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57431583C>T	ENST00000371237.4	-	1	105	c.39G>A	c.(37-39)gtG>gtA	p.V13V	RP5-1103B4.3_ENST00000417420.1_RNA|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000543257.1_5'UTR	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	13					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GAAATAGCTCCACCGGCGCCC	0.507000													39	7					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	382592	382592	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:382592G>A	ENST00000256509.2	+	6	1143	c.501G>A	c.(499-501)atG>atA	p.M167I	CHL1_ENST00000397491.2_Missense_Mutation_p.M167I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	167	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTTATTGGATGAATATTGGTA	0.368000													17	26					0	0	1	0	0
ABLIM2	84448	broad.mit.edu	37	4	8021970	8021970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8021970G>A	ENST00000296372.8	-	12	1371	c.1229C>T	c.(1228-1230)cCc>cTc	p.P410L	ABLIM2_ENST00000514025.1_Intron|ABLIM2_ENST00000407564.3_Intron|ABLIM2_ENST00000545242.1_Missense_Mutation_p.P410L|ABLIM2_ENST00000505872.1_Intron|ABLIM2_ENST00000428004.2_Intron|ABLIM2_ENST00000515079.1_5'UTR|ABLIM2_ENST00000361581.5_Missense_Mutation_p.P410L|ABLIM2_ENST00000447017.2_Missense_Mutation_p.P443L|ABLIM2_ENST00000318888.4_Intron|ABLIM2_ENST00000341937.5_Missense_Mutation_p.P410L|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000361737.5_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	410					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GTAGGTGGAGGGGGGCGGCTT	0.627000													10	9					0	0	1	0	0
OR52B6	340980	broad.mit.edu	37	11	5602771	5602771	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5602771C>T	ENST00000345043.2	+	1	665	c.665C>T	c.(664-666)gCt>gTt	p.A222V	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGCAGCTGCTCTTCTCTCC	0.483000													36	135					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20410537	20410537	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20410537G>A	ENST00000302451.4	-	2	334	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	29					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTGGATGCTGGAAACACCGGC	0.602000													68	46					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2140797	2140797	+	Silent	SNP	G	G	A	rs2855367		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2140797G>A	ENST00000262304.4	-	44	12224	c.12016C>T	c.(12016-12018)Cta>Tta	p.L4006L	PKD1_ENST00000423118.1_Silent_p.L4005L	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4006				QL -> HV (in Ref. 1; AAC50128).	calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACGAAGCGTAGCTGCTGGGCA	0.662000													16	31					0	0	1	0	0
LMCD1	29995	broad.mit.edu	37	3	8609134	8609134	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:8609134C>T	ENST00000157600.3	+	6	1180	c.948C>T	c.(946-948)ttC>ttT	p.F316F	LMCD1_ENST00000397386.3_Silent_p.F204F|LMCD1_ENST00000454244.1_Silent_p.F243F|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	316	LIM zinc-binding 2.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AGATAATATTCGCTGAGGACT	0.532000													101	173					0	0	1	0	0
FAM210A	125228	broad.mit.edu	37	18	13681863	13681863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:13681863C>T	ENST00000322247.3	-	3	601	c.214G>A	c.(214-216)Gat>Aat	p.D72N	FAM210A_ENST00000588475.1_5'UTR|FAM210A_ENST00000402563.1_Missense_Mutation_p.D72N	NM_001098801.1	NP_001092271.1	Q96ND0	CR019_HUMAN	family with sequence similarity 210, member A	72						integral to membrane											GGATGAGCATCCAATGGCCTC	0.478000													65	9					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20665671	20665671	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20665671G>A	ENST00000357366.3	+	1	177	c.177G>A	c.(175-177)agG>agA	p.R59R		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTTGCCCCAGGGAGGGGCAGA	0.532000													25	27					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762307	24762307	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:24762307G>A	ENST00000376451.2	+	2	411	c.151G>A	c.(151-153)Ggg>Agg	p.G51R	KIAA1217_ENST00000307544.6_Missense_Mutation_p.G51R|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G51R|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G333R|KIAA1217_ENST00000430453.2_Missense_Mutation_p.G254R|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G333R|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G333R|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G51R|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G253R			Q5T5P2	SKT_HUMAN	KIAA1217	333					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AATTCCTTATGGGGGCACCCG	0.607000													13	55					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718346	142718346	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:142718346G>A	ENST00000381779.4	-	2	804	c.579C>T	c.(577-579)ctC>ctT	p.L193L	SLITRK4_ENST00000338017.4_Silent_p.L193L|SLITRK4_ENST00000356928.1_Silent_p.L193L	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	193						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CGATATAAGGGAGCTTCTGGA	0.413000													17	32					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10450895	10450895	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10450895G>A	ENST00000245503.5	-	4	629	c.245C>T	c.(244-246)cCt>cTt	p.P82L	MYH2_ENST00000532183.1_Missense_Mutation_p.P82L|MYH2_ENST00000397183.2_Missense_Mutation_p.P82L|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	82	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATATTTGGGAGGGTTCATGGG	0.438000													30	100					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86119203	86119203	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:86119203G>A	ENST00000445632.2	+	9	1276	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	CCDC81_ENST00000278487.3_Intron|CCDC81_ENST00000354755.1_Missense_Mutation_p.R245Q|CCDC81_ENST00000528728.1_Intron	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	335										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				CGAGCACAACGAAATTCCCTG	0.393000													7	16					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36223190	36223190	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36223190C>T	ENST00000222270.7	+	28	5740	c.5740C>T	c.(5740-5742)Cgt>Tgt	p.R1914C	WBP7_ENST00000420124.1_Missense_Mutation_p.R1914C|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					CAGACGTTCCCGTCGTCCCAG	0.642000													3	7					0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57373655	57373655	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57373655G>A	ENST00000361249.3	+	9	1345	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	417	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CATGGCTGTGGAAGACATTAT	0.517000													12	21					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44842958	44842958	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:44842958C>G	ENST00000326047.4	+	12	1388	c.1239C>G	c.(1237-1239)aaC>aaG	p.N413K	KIF15_ENST00000425755.1_Missense_Mutation_p.N48K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	413					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		AGAAGACTAACTATATGGAGT	0.303000													15	67					0	0	1	0	0
GABBR1	2550	broad.mit.edu	37	6	29599287	29599287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29599287C>T	ENST00000377034.4	-	3	510	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	GABBR1_ENST00000376977.3_Missense_Mutation_p.V59M|GABBR1_ENST00000377016.4_Missense_Mutation_p.V59M	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	59	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TCATAGTCCACTGGCAGGAAG	0.617000													32	170					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61253371	61253371	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61253371C>T	ENST00000338608.2	+	7	800	c.675C>T	c.(673-675)ctC>ctT	p.L225L	PPP1R32_ENST00000432063.2_Silent_p.L225L	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	225																	CACAGGCCCTCCCTGGGGACC	0.557000													24	27					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868096	58868096	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58868096G>A	ENST00000311044.3	-	3	1094	c.906C>T	c.(904-906)ttC>ttT	p.F302F	ZNF497_ENST00000425453.3_Silent_p.F302F|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CGGCGCAGGGGAAGGGCTTCT	0.721000													4	8					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129859246	129859246	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129859246C>T	ENST00000254667.3	+	8	834	c.555C>T	c.(553-555)ccC>ccT	p.P185P	PTPRE_ENST00000419012.2_Silent_p.P185P|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Silent_p.P127P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	185	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATGGAATTCCCTGTTCAGACT	0.468000													8	31					0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27720136	27720136	+	Silent	SNP	C	C	T	rs151072917		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:27720136C>T	ENST00000261588.4	+	13	1519	c.1500C>T	c.(1498-1500)ttC>ttT	p.F500F	CTD-2049O4.1_ENST00000568831.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA|CTD-2049O4.1_ENST00000564893.1_RNA|KIAA0556_ENST00000567894.1_3'UTR	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	500										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AAGTCGAGTTCTTTGACTTGA	0.547000													18	48					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32065665	32065665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32065665C>T	ENST00000375244.3	-	2	512	c.311G>A	c.(310-312)aGg>aAg	p.R104K	TNXB_ENST00000375247.2_Missense_Mutation_p.R104K|TNXB_ENST00000479795.1_Missense_Mutation_p.R104K			P22105	TENX_HUMAN	tenascin XB	104					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TAGACGGACCCTCAGGGCCTG	0.617000													56	340					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21641176	21641176	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21641176G>A	ENST00000328843.6	+	18	3619	c.3588G>A	c.(3586-3588)acG>acA	p.T1196T	DNAH11_ENST00000409508.3_Silent_p.T1196T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1196	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAAAAGAAACGATCACCCTCT	0.418000									Kartagener syndrome				8	33					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7126627	7126627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7126627G>A	ENST00000341500.5	-	15	2984	c.2945C>T	c.(2944-2946)tCt>tTt	p.S982F	INSR_ENST00000302850.5_Missense_Mutation_p.S994F	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	994					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGTTTGAAGAAGCGTAAAG	0.537000													125	219					0	0	1	0	0
TMEM248	55069	broad.mit.edu	37	7	66418263	66418263	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:66418263C>T	ENST00000341567.4	+	6	1086	c.831C>T	c.(829-831)ctC>ctT	p.L277L		NM_017994.4	NP_060464.1			transmembrane protein 248																		GTTACTTCCTCTTTGTGATGG	0.398000													85	88					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215890473	215890473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:215890473C>T	ENST00000272895.7	-	11	1430	c.1211G>A	c.(1210-1212)cGa>cAa	p.R404Q	ABCA12_ENST00000389661.4_Missense_Mutation_p.R86Q|AC072062.3_ENST00000437897.3_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	404					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.R404Q(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTTTTAAATCGTATTGTGGA	0.343000													13	25					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43529513	43529513	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:43529513G>A	ENST00000282041.5	-	5	1468	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F		NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	478					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						GGTTTAGAAGGAAGAGGTGAT	0.398000													9	15					0	0	1	0	0
DNA2	1763	broad.mit.edu	37	10	70190408	70190408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:70190408G>A	ENST00000399180.2	-	14	2250	c.2251C>T	c.(2251-2253)Ctc>Ttc	p.L751F	DNA2_ENST00000358410.3_Missense_Mutation_p.L665F|DNA2_ENST00000399179.2_Intron			P51530	DNA2L_HUMAN	DNA replication helicase/nuclease 2	665					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CAGGCGTAGAGAATTCTTACC	0.313000													6	2					0	0	1	0	0
FZD10	11211	broad.mit.edu	37	12	130649062	130649062	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130649062C>T	ENST00000229030.4	+	1	2059	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	525					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTTGGACCTCCAAGACTCTGC	0.567000													11	45					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130500	52130500	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52130500C>T	ENST00000222107.4	-	7	1422	c.1282_splice	c.e7-1	p.G428_splice	SIGLEC5_ENST00000429354.3_Splice_Site_p.G428_splice|SIGLEC5_ENST00000599649.1_Splice_Site_p.G428_splice|SIGLEC5_ENST00000570106.2_Splice_Site_p.G428_splice|SIGLEC5_ENST00000534261.2_Splice_Site_p.G428_splice			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	428					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGTTCGATCTCCCTGCAGAAA	0.562000													10	50					0	0	1	0	0
PRSS42	339906	broad.mit.edu	37	3	46871983	46871983	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46871983C>T	ENST00000447340.1	-	3	328	c.274_splice	c.e3-1	p.G92_splice	PRSS42_ENST00000429665.1_Splice_Site_p.G265_splice			Q7Z5A4	PRS42_HUMAN	protease, serine, 42	196	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						CCAGAATCTCCCTAGAGAAAG	0.502000													4	9					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281499	45281499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45281499G>A	ENST00000270279.3	+	1	374	c.311G>A	c.(310-312)aGg>aAg	p.R104K	CBLC_ENST00000341505.4_Missense_Mutation_p.R104K	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	104	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CGGGGCCGAAGGAGTGCCAAC	0.672000			M		AML								66	92					0	0	1	0	0
ADH1C	126	broad.mit.edu	37	4	100266210	100266210	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:100266210C>T	ENST00000515683.1	-	0	727				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGGTGCCATCCTGCAGGGTC	0.552000													13	43					0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834834	27834834	+	Silent	SNP	C	C	T	rs143393068	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:27834834C>T	ENST00000331442.3	-	1	525	c.474G>A	c.(472-474)aaG>aaA	p.K158K		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	158					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTTCTTCGCCTTCTTCGGAG	0.607000													125	101					0	0	1	0	0
SLC18A1	6570	broad.mit.edu	37	8	20038433	20038433	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:20038433C>T	ENST00000440926.1	-	3	513	c.43G>A	c.(43-45)Gag>Aag	p.E15K	SLC18A1_ENST00000437980.1_Missense_Mutation_p.E15K|SLC18A1_ENST00000381608.4_Missense_Mutation_p.E15K|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E15K|SLC18A1_ENST00000276373.5_Missense_Mutation_p.E15K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E15K	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	15					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		GCTCTCCCCTCCTTCAGCAAC	0.602000													5	12					0	0	1	0	0
CASC3	22794	broad.mit.edu	37	17	38324145	38324145	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38324145C>T	ENST00000264645.7	+	10	1920	c.1694C>T	c.(1693-1695)gCc>gTc	p.A565V		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	565	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GACAGCCCTGCCCCGCTGCCT	0.512000													80	105					0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46601390	46601390	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:46601390C>T	ENST00000398637.5	-	7	1097	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.E135K|SLC38A1_ENST00000549049.1_Missense_Mutation_p.E135K|SLC38A1_ENST00000552197.1_Missense_Mutation_p.E135K|SLC38A1_ENST00000546893.1_Missense_Mutation_p.E135K	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	135					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCCAGCTTTTCATACACCATG	0.383000													24	82					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559468	20559468	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20559468C>T	ENST00000329697.6	-	8	1182	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Silent_p.G338G|ACSM2B_ENST00000565232.1_Silent_p.G338G|ACSM2B_ENST00000565322.1_Silent_p.G259G	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	338					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAAGGGACTCCCCTCCAGCGA	0.532000													47	106					0	0	1	0	0
GTF2I	2969	broad.mit.edu	37	7	74103493	74103493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:74103493G>A	ENST00000324896.4	+	2	420	c.31G>A	c.(31-33)Gtt>Att	p.V11I	GTF2I_ENST00000353920.4_Missense_Mutation_p.V11I|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.V11I|GTF2I_ENST00000346152.4_Missense_Mutation_p.V11I|GTF2I_ENST00000416070.1_Missense_Mutation_p.V11I	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	11					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						CACCCTCCCCGTTGAAGATGA	0.517000													38	72					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55177876	55177876	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55177876G>A	ENST00000391736.1	+	11	1292	c.977G>A	c.(976-978)gGa>gAa	p.G326E	LILRB4_ENST00000391733.3_Missense_Mutation_p.G326E|LILRB4_ENST00000391734.3_Missense_Mutation_p.G326E|LILRB4_ENST00000430952.2_Missense_Mutation_p.G326E|LILRB4_ENST00000270452.2_Missense_Mutation_p.G326E	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	326						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GACGTCCAGGGAGAAAACTTC	0.587000													10	37					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127438010	127438010	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:127438010C>T	ENST00000337623.3	+	21	3156	c.3051C>T	c.(3049-3051)caC>caT	p.H1017H	RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000601363.1_RNA|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000356792.4_Silent_p.H1051H|RP11-383C5.7_ENST00000600784.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	1051					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGAAACAACACCGGGTGCTGG	0.468000													38	11					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15967721	15967721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:15967721C>T	ENST00000350896.3	-	9	1237	c.1040G>A	c.(1039-1041)gGt>gAt	p.G347D	MSR1_ENST00000445506.2_Missense_Mutation_p.G428D|MSR1_ENST00000262101.5_Missense_Mutation_p.G410D|MSR1_ENST00000355282.2_Missense_Mutation_p.G347D	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	410					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCATATTGGACCAGTACCTGC	0.373000													18	69					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382615	22382615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22382615C>T	ENST00000328795.4	+	1	234	c.143C>T	c.(142-144)aCc>aTc	p.T48I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATTATTTTCACCATAAGGTCA	0.458000													7	197					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101748841	101748841	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:101748841C>T	ENST00000506729.1	-	9	1650	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	SLCO6A1_ENST00000389019.3_Silent_p.G431G|SLCO6A1_ENST00000379810.1_Silent_p.G240G|SLCO6A1_ENST00000379807.3_Silent_p.G493G|SLCO6A1_ENST00000513675.1_Silent_p.G240G			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	493						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCCCAACTTCCCTGTTCTGT	0.308000													13	21					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159677661	159677661	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:159677661G>A	ENST00000297267.9	+	18	5372	c.5172G>A	c.(5170-5172)acG>acA	p.T1724T	FNDC1_ENST00000340366.6_Silent_p.T1661T	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1724	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AGCCCAACACGAGGTACGATG	0.423000													24	31					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69112140	69112140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:69112140G>A	ENST00000361055.4	-	9	740	c.686C>T	c.(685-687)cCa>cTa	p.P229L	UBA3_ENST00000540295.1_Missense_Mutation_p.P52L|UBA3_ENST00000415609.2_Missense_Mutation_p.P188L|UBA3_ENST00000349511.4_Missense_Mutation_p.P215L	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	229	Interaction with NEDD8.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TACCTGTGGTGGATAAAGTTC	0.388000													20	54					0	0	1	0	0
FMNL2	114793	broad.mit.edu	37	2	153481956	153481956	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:153481956G>A	ENST00000288670.9	+	16	2209	c.1842G>A	c.(1840-1842)gtG>gtA	p.V614V	FMNL2_ENST00000475377.2_5'UTR|FMNL2_ENST00000497192.1_3'UTR	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	614					actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTTTAGCTGTGAAAATTAAGA	0.418000													5	16					0	0	1	0	0
MAP6	4135	broad.mit.edu	37	11	75298411	75298411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:75298411G>A	ENST00000304771.3	-	4	2885	c.2135C>T	c.(2134-2136)tCc>tTc	p.S712F	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.S383F	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	712	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ATTCTTCACGGACTCGGGGAC	0.498000													34	120					0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185138772	185138772	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:185138772G>A	ENST00000296741.2	-	1	342	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	67					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AGAGACTAGGGAAGTCTGGAG	0.502000													28	61					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24537620	24537620	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:24537620A>T	ENST00000264463.4	-	3	902	c.395T>A	c.(394-396)aTt>aAt	p.I132N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	132	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCTTCTGTTAATAGCTTGTGC	0.393000										HNSCC(23;0.051)			87	39					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41385008	41385008	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:41385008G>A	ENST00000400454.1	-	33	6469	c.5992C>T	c.(5992-5994)Cat>Tat	p.H1998Y		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1998				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTTTCAAATGGCCCCGGGAG	0.507000													8	36					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90136540	90136540	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:90136540G>A	ENST00000405460.2	+	78	16853	c.16757G>A	c.(16756-16758)gGa>gAa	p.G5586E	GPR98_ENST00000425867.2_Missense_Mutation_p.G1247E	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5586					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CCAGAGACAGGATCTTTAAAT	0.423000													30	96					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793544	65793544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65793544C>T	ENST00000312106.5	-	1	444	c.307G>A	c.(307-309)Ggc>Agc	p.G103S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	103	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGGACGGCGCCTTGAGAGGGA	0.607000													55	90					0	0	1	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54477832	54477832	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:54477832C>T	ENST00000371360.1	-	4	341	c.324G>A	c.(322-324)gaG>gaA	p.E108E	LDLRAD1_ENST00000371362.3_Intron|LDLRAD1_ENST00000420619.1_Silent_p.E69E|LDLRAD1_ENST00000545928.1_Silent_p.E65E	NM_001010978.2	NP_001010978.2	Q5T700	LRAD1_HUMAN	low density lipoprotein receptor class A domain containing 1	108	LDL-receptor class A 1.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						AGCTCTCATCCTCGTCCTCGC	0.602000													17	13					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74388010	74388010	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74388010A>T	ENST00000319380.7	-	16	3195	c.3131T>A	c.(3130-3132)cTg>cAg	p.L1044Q		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	1044							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCAGGTGCCCAGGAGGCTGAC	0.592000													12	23					0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12296207	12296207	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:12296207G>A	ENST00000379375.5	+	5	813	c.546G>A	c.(544-546)atG>atA	p.M182I		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	182					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				CGGAGACCATGAGAAACAGCG	0.403000													28	153					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023580	18023580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18023580G>A	ENST00000205890.5	+	2	1804	c.1466G>A	c.(1465-1467)gGg>gAg	p.G489E		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	489	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AAGCTGTTTGGGAAGGAGAAG	0.627000													11	36					0	0	1	0	0
YTHDC2	64848	broad.mit.edu	37	5	112926748	112926748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:112926748C>T	ENST00000161863.4	+	27	4049	c.3836C>T	c.(3835-3837)tCt>tTt	p.S1279F		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1279	Ser-rich.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		GGCTCAAAATCTCCTTCGCCA	0.363000													9	16					0	0	1	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113619950	113619950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:113619950G>A	ENST00000358160.4	+	7	1105	c.613G>A	c.(613-615)Gag>Aag	p.E205K	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_5'UTR|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E38K	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	205						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AAATGCTGAGGAGATGGAAAA	0.393000													18	44					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141072564	141072564	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141072564C>T	ENST00000389484.3	-	83	13716	c.12745G>A	c.(12745-12747)Gaa>Aaa	p.E4249K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4249	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGGTTGACTTCACATCTTTCT	0.378000										TSP Lung(27;0.18)			16	31					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44052675	44052675	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:44052675G>A	ENST00000306006.6	-	2	1505	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	ZNF239_ENST00000426961.1_Missense_Mutation_p.H285Y|ZNF239_ENST00000374446.2_Missense_Mutation_p.H285Y|ZNF239_ENST00000535642.1_Missense_Mutation_p.H285Y	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TCGCCTGTATGGACGGCATGA	0.502000													44	128					0	0	1	0	0
BIRC3	330	broad.mit.edu	37	11	102207793	102207793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:102207793G>A	ENST00000263464.3	+	9	4525	c.1775G>A	c.(1774-1776)aGg>aAg	p.R592K	BIRC3_ENST00000532808.1_Missense_Mutation_p.R592K	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	592					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		CCTATTTGTAGGAGTACAATC	0.323000			T	MALT1	MALT								8	11					0	0	1	0	0
SPERT	220082	broad.mit.edu	37	13	46287427	46287427	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:46287427C>T	ENST00000378966.3	+	2	575	c.159C>T	c.(157-159)tcC>tcT	p.S53S	SPERT_ENST00000310521.1_Silent_p.S89S			Q8NA61	SPERT_HUMAN	spermatid associated	89						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GCCAGCACTCCTATCCACTGA	0.682000													37	19					0	0	1	0	0
TRAV12-3	28672	broad.mit.edu	37	14	22433768	22433768	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22433768C>T	ENST00000390442.3	+	0	89																											TACTGGTGATCCTGTGGCTTC	0.363000													10	52					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15893519	15893519	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:15893519G>A	ENST00000285670.2	-	3	459	c.285C>T	c.(283-285)ttC>ttT	p.F95F	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Silent_p.F27F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	27					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		GAAAACGATCGAAATTCCCAA	0.289000													4	17					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573497	140573497	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140573497C>T	ENST00000239446.4	+	1	1556	c.1372C>T	c.(1372-1374)Ctg>Ttg	p.L458L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		458	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.L458M(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCTACACCCTGTTCGTCCG	0.617000													78	76					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42608391	42608391	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:42608391G>A	ENST00000359486.3	-	1	3057	c.2921C>T	c.(2920-2922)tCc>tTc	p.S974F	TCF20_ENST00000335626.4_Missense_Mutation_p.S974F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	974					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTCTGAAAGGGAATCATGGGT	0.582000													21	91					0	0	1	0	0
CYP2C8	1558	broad.mit.edu	37	10	96827158	96827158	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96827158G>A	ENST00000539050.1	-	2	591	c.30C>T	c.(28-30)ttC>ttT	p.F10F	CYP2C8_ENST00000535898.1_Intron|CYP2C8_ENST00000371270.3_Intron			P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	169					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CACAGCCAAGGAAGAAAGTGC	0.478000													14	23					0	0	1	0	0
FOLR3	2352	broad.mit.edu	37	11	71850849	71850849	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:71850849C>T	ENST00000445078.2	+	5	903	c.832C>T	c.(832-834)Ccg>Tcg	p.P278S	FOLR3_ENST00000456237.1_Missense_Mutation_p.P280S|FOLR3_ENST00000442948.2_Missense_Mutation_p.P237S			P41439	FOLR3_HUMAN	folate receptor 3 (gamma)	236					folic acid transport	extracellular region|extrinsic to membrane|membrane fraction	folic acid binding|receptor activity			large_intestine(3)|lung(8)|prostate(2)	13					Folic Acid(DB00158)	TGCTGGGGCCCCGTCTCGTGG	0.532000													27	25					0	0	1	0	0
DDAH2	23564	broad.mit.edu	37	6	31696231	31696231	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31696231G>A	ENST00000375789.2	-	3	1098	c.468C>T	c.(466-468)ttC>ttT	p.F156F	DDAH2_ENST00000375787.2_Silent_p.F156F|DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375792.3_Silent_p.F156F			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	156					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	TCCGCACCCGGAACGTGTCCG	0.662000													34	174					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28852029	28852029	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:28852029G>A	ENST00000422425.2	+	52	3806	c.3762G>A	c.(3760-3762)ggG>ggA	p.G1254G	PLB1_ENST00000541605.1_Silent_p.G230G|PLB1_ENST00000327757.5_Silent_p.G1265G	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1265	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GCCAAGGCGGGAAATGTGCCA	0.617000													8	85					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	101847168	101847168	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:101847168C>T	ENST00000369138.1	+	1	505	c.15C>T	c.(13-15)ttC>ttT	p.F5F	GRIK2_ENST00000369137.3_Silent_p.F5F|GRIK2_ENST00000358361.3_Silent_p.F5F|GRIK2_ENST00000413795.1_Silent_p.F5F|GRIK2_ENST00000421544.1_Silent_p.F5F|GRIK2_ENST00000318991.6_Silent_p.F5F	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	5					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGATTATTTTCCCGATTCTAA	0.483000													10	20					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126808	99126808	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:99126808G>A	ENST00000370992.4	-	26	3148	c.3037C>T	c.(3037-3039)Cgc>Tgc	p.R1013C	RRP12_ENST00000536831.1_Missense_Mutation_p.R731C|RRP12_ENST00000414986.1_Missense_Mutation_p.R952C|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.R913C	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1013						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CCAAACTTGCGGATGAACTTG	0.587000													20	57					0	0	1	0	0
IL1RL1	9173	broad.mit.edu	37	2	102968026	102968026	+	Missense_Mutation	SNP	G	G	A	rs150294315		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:102968026G>A	ENST00000233954.1	+	11	1587	c.1316G>A	c.(1315-1317)cGa>cAa	p.R439Q		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	439	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						ACCAACATACGAAAGAGCAGG	0.438000													18	8					0	0	1	0	0
PSG8	440533	broad.mit.edu	37	19	43262257	43262257	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43262257G>A	ENST00000404209.4	-	3	702	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000401467.2_Intron|PSG8_ENST00000406636.3_Silent_p.L80L|PSG8_ENST00000306511.4_Silent_p.L202L	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	202	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CCAATAGAAAGAGGGTCCTGT	0.522000													76	294					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325460	79325460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:79325460G>A	ENST00000428286.1	-	8	1853	c.653C>T	c.(652-654)cCc>cTc	p.P218L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.P577L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	577					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTTATCTCTGGGACTGTCTTG	0.438000													12	14					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161128747	161128747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:161128747G>A	ENST00000523217.1	+	9	1542	c.1300G>A	c.(1300-1302)Gat>Aat	p.D434N	GABRA6_ENST00000274545.5_Missense_Mutation_p.D444N	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	444					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTTTCCAAAGATACAATGGA	0.383000										TCGA Ovarian(5;0.080)			27	18					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089208	220089208	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:220089208G>A	ENST00000409618.1	-	8	1324	c.885C>T	c.(883-885)atC>atT	p.I295I	ATG9A_ENST00000409422.1_Silent_p.I234I|ATG9A_ENST00000361242.4_Silent_p.I295I|ATG9A_ENST00000396761.2_Silent_p.I295I			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	295					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGTTAGCGATGCCAATCC	0.587000													4	14					0	0	1	0	0
FCF1	51077	broad.mit.edu	37	14	75200864	75200864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:75200864C>T	ENST00000341162.4	+	7	593	c.539C>T	c.(538-540)tCt>tTt	p.S180F	FCF1_ENST00000534938.2_Missense_Mutation_p.S168F|FCF1_ENST00000553615.1_Missense_Mutation_p.S165F	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	180					rRNA processing	nucleolus				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		ATGTACATTTCTAACCATAGG	0.363000													9	29					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10951333	10951333	+	Missense_Mutation	SNP	G	G	A	rs148393004		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10951333G>A	ENST00000298232.7	-	9	692	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	TPTE_ENST00000342420.5_Missense_Mutation_p.R89C|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.R127C	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R109C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATAGAACGATACTCCAAA	0.338000													10	66					0	0	1	0	0
PPP1R12B	4660	broad.mit.edu	37	1	202407211	202407211	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:202407211C>T	ENST00000480184.1	+	10	1649	c.1517C>T	c.(1516-1518)tCa>tTa	p.S506L	PPP1R12B_ENST00000406302.3_Intron|PPP1R12B_ENST00000356764.2_3'UTR|PPP1R12B_ENST00000336894.4_Intron	NM_001167857.1	NP_001161329.1	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	506					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)			CATGAAAATTCAATCTTAGGA	0.368000													8	29					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961097	73961097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73961097G>A	ENST00000373468.1	-	3	3946	c.3295C>T	c.(3295-3297)Caa>Taa	p.Q1099*	KIAA2022_ENST00000055682.5_Nonsense_Mutation_p.Q1099*			Q5QGS0	K2022_HUMAN	KIAA2022	1099					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ACACCCTCTTGGAACCCCTTT	0.483000													28	29					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279971	152279971	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152279971C>T	ENST00000368799.1	-	3	7426	c.7391G>A	c.(7390-7392)gGa>gAa	p.G2464E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2464	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGGGTGTCCATGAATGGT	0.577000									Ichthyosis				84	568					0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46066470C>T	ENST00000295452.4	-	5	780	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	205					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTGAAAATTCCAGTGGACAG	0.274000													18	45					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817707	77817707	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:77817707C>T	ENST00000334306.2	-	1	1295	c.1296G>A	c.(1294-1296)agG>agA	p.R432R		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	432																	TGAGCTTCCCCCTATCTGGGG	0.617000													77	60					0	0	1	0	0
YIPF4	84272	broad.mit.edu	37	2	32526553	32526553	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:32526553A>T	ENST00000238831.3	+	5	832	c.586A>T	c.(586-588)Aca>Tca	p.T196S		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	196						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGTGGTGTCTACACTTATAAA	0.343000													11	93					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86394513	86394513	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86394513G>A	ENST00000361669.2	+	2	1151	c.52G>A	c.(52-54)Gga>Aga	p.G18R	GRM3_ENST00000536043.1_Intron|GRM3_ENST00000439827.1_Missense_Mutation_p.G18R|GRM3_ENST00000394720.2_Missense_Mutation_p.G16R|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	18					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTTTTCAAAGGGATTTTTACT	0.398000													79	64					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126791215	126791215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:126791215G>A	ENST00000274473.6	+	25	3415	c.3148G>A	c.(3148-3150)Gag>Aag	p.E1050K	MEGF10_ENST00000503335.2_Missense_Mutation_p.E1050K|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1050	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGGTTATGTGGAGATGAAATC	0.443000													34	29					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999402	46999402	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:46999402G>A	ENST00000374314.4	+	1	1477	c.522G>A	c.(520-522)agG>agA	p.R174R	GPRIN2_ENST00000374317.1_Silent_p.R174R			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	174										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GCCTGGAAAGGGACCTGGCTC	0.632000													7	45					0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45476449	45476449	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45476449C>G	ENST00000541297.2	+	3	714	c.249C>G	c.(247-249)ttC>ttG	p.F83L	CLPTM1_ENST00000337392.5_Missense_Mutation_p.F97L|CLPTM1_ENST00000546079.1_5'UTR			O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	97					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		GCAACCTGTTCCCCAAAGACA	0.637000													88	118					0	0	1	0	0
BCAM	4059	broad.mit.edu	37	19	45315495	45315495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45315495G>A	ENST00000391955.1	+	3	324	c.280G>A	c.(280-282)Gac>Aac	p.D94N	BCAM_ENST00000270233.6_Missense_Mutation_p.D94N			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	94	Ig-like V-type 1.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CACAATGCACGACACCCGGGG	0.706000													76	118					0	0	1	0	0
NUAK1	9891	broad.mit.edu	37	12	106460735	106460735	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:106460735G>A	ENST00000261402.2	-	7	3210	c.1831C>T	c.(1831-1833)Cag>Tag	p.Q611*		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	611							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TCAAAGTCCTGGATCTGGAGG	0.612000													19	24					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61512325	61512325	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61512325G>A	ENST00000266070.4	-	16	5308	c.4983C>T	c.(4981-4983)ccC>ccT	p.P1661P	DIDO1_ENST00000395343.1_Silent_p.P1661P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1661					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AAGGCGGTGTGGGCAGCAGCA	0.731000													5	32					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109381019	109381019	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:109381019C>T	ENST00000283195.6	+	20	4150	c.4024C>T	c.(4024-4026)Ctg>Ttg	p.L1342L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1342					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCTGGAAACCTGAATTTTGA	0.388000													18	24					0	0	1	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499593	59499593	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:59499593G>A	ENST00000307144.4	+	1	552	c.454G>A	c.(454-456)Gga>Aga	p.G152R	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	152					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	CCAAGAAAAGGGAGAAACGCG	0.423000													37	107					0	0	1	0	0
GJD2	57369	broad.mit.edu	37	15	35045159	35045159	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:35045159C>T	ENST00000290374.4	-	2	962	c.486G>A	c.(484-486)aaG>aaA	p.K162K		NM_020660.2	NP_065711.1	Q9UKL4	CXD2_HUMAN	gap junction protein, delta 2, 36kDa	162					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		GCTCTGTCTCCTTACTGGTGT	0.507000													56	188					0	0	1	0	0
TPK1	27010	broad.mit.edu	37	7	144288569	144288569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:144288569G>A	ENST00000549981.1	-	9	820	c.97C>T	c.(97-99)Cct>Tct	p.P33S	TPK1_ENST00000360057.3_Missense_Mutation_p.P150S|TPK1_ENST00000538212.2_Intron|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000378099.3_Intron			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	150					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTGGAAAAGGAGTGATGTGA	0.443000													12	68					0	0	1	0	0
MPO	4353	broad.mit.edu	37	17	56350853	56350853	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56350853G>A	ENST00000340482.3	-	8	1815	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W	MPO_ENST00000225275.3_Missense_Mutation_p.R515W			P05164	PERM_HUMAN	myeloperoxidase	515					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGCTGGTACCGATTGTCCAGG	0.592000													76	112					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158073936	158073936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:158073936C>T	ENST00000264428.4	+	9	1241	c.971C>T	c.(970-972)tCc>tTc	p.S324F	GLRB_ENST00000509282.1_Missense_Mutation_p.S324F|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	324					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CCCAAAGTTTCCTATGTGAAG	0.483000													64	59					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179520354	179520354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179520354G>A	ENST00000367615.4	-	8	1174	c.1106C>T	c.(1105-1107)cCt>cTt	p.P369L	AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Missense_Mutation_p.P301L	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	369					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGCTCAACAGGTTTGGAAGG	0.468000													57	74					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124165034	124165034	+	Missense_Mutation	SNP	G	G	A	rs77832285		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124165034G>A	ENST00000360013.3	+	20	3461	c.3334G>A	c.(3334-3336)Gag>Aag	p.E1112K	KALRN_ENST00000240874.3_Missense_Mutation_p.E1112K|KALRN_ENST00000460856.1_Missense_Mutation_p.E1103K	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1112					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CCTGCAGAGGGAGAATCGCGT	0.567000													10	35					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362802	105362802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:105362802C>T	ENST00000369774.4	-	15	2449	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D560N|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D592N|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D697N			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	725					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ATGCCTGCGTCCGAAGCAGAG	0.622000													29	76					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27999004	27999004	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:27999004G>A	ENST00000441525.1	-	1	562	c.448C>T	c.(448-450)Ctg>Ttg	p.L150L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	150										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GATCGGGGCAGGGCAGATGTC	0.567000													6	6					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48371159	48371159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:48371159G>A	ENST00000380518.3	-	46	3381	c.3217C>T	c.(3217-3219)Cct>Tct	p.P1073S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P1004S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1073	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGGAGCCAGGGGGCCCAGGG	0.597000													26	66					0	0	1	0	0
ARHGAP31	57514	broad.mit.edu	37	3	119121009	119121009	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:119121009C>T	ENST00000264245.4	+	10	1942	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	470					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CCAGCAGCCTCTTCCAGATGG	0.582000													52	24					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537569	55537569	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55537569G>A	ENST00000220676.1	+	4	1275	c.1127G>A	c.(1126-1128)cGa>cAa	p.R376Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	376					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACAGAAAGTCGATCATCTGGT	0.413000													17	17					0	0	1	0	0
OR10K1	391109	broad.mit.edu	37	1	158435393	158435393	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158435393C>T	ENST00000289451.2	+	1	122	c.42C>T	c.(40-42)gtC>gtT	p.V14V		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	14					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)					AGTTCGTCGTCCTCGGCTTCT	0.507000													36	56					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277889	152277889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152277889G>A	ENST00000368799.1	-	3	9508	c.9473C>T	c.(9472-9474)tCc>tTc	p.S3158F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3158	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCACTTCTGGATCCTGACTG	0.552000									Ichthyosis				84	314					0	0	1	0	0
SLC9A3R1	9368	broad.mit.edu	37	17	72764748	72764748	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72764748C>T	ENST00000262613.5	+	6	1225	c.1030C>T	c.(1030-1032)Ccg>Tcg	p.P344S	SLC9A3R1_ENST00000413388.2_Missense_Mutation_p.P188S	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	344					apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						CAAACGGGCCCCGCAGATGGA	0.617000													18	82					0	0	1	0	0
TAL1	6886	broad.mit.edu	37	1	47685578	47685578	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:47685578C>T	ENST00000371883.3	-	4	1392	c.816G>A	c.(814-816)ggG>ggA	p.G272G	TAL1_ENST00000459729.1_5'UTR|TAL1_ENST00000294339.3_Silent_p.G270G|TAL1_ENST00000371884.2_Silent_p.G270G			P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	270	Poly-Gly.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						cgccccctcccccacctccac	0.687000			T	"""TRD@, SIL"""	lymphoblastic leukemia/biphasic								15	2					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37507929	37507929	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37507929G>A	ENST00000374660.1	+	40	3577	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1041K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1041K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCATGAAAATGAAAATTATCT	0.313000													11	16					0	0	1	0	0
DNMT3L	29947	broad.mit.edu	37	21	45670779	45670779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45670779C>T	ENST00000270172.3	-	10	1306	c.823G>A	c.(823-825)Ggc>Agc	p.G275S	AP001059.5_ENST00000442785.1_RNA|DNMT3L_ENST00000418993.1_Missense_Mutation_p.G275S	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	275					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CTGGGGCTGCCTGGCTTGGGC	0.662000													6	26					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534320	92534320	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:92534320C>T	ENST00000298047.6	+	9	8158	c.8141C>T	c.(8140-8142)tCc>tTc	p.S2714F	FAT3_ENST00000409404.2_Missense_Mutation_p.S2714F|FAT3_ENST00000525166.1_Missense_Mutation_p.S2564F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2714	Cadherin 25.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTCAGTATTCCTTTACCATT	0.498000										TCGA Ovarian(4;0.039)			161	589					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5131469	5131469	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:5131469C>T	ENST00000159111.4	+	12	1916	c.1698C>T	c.(1696-1698)tcC>tcT	p.S566S	KDM4B_ENST00000536461.1_Silent_p.S600S	NM_015015.2	NP_055830.1	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	566					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AACCAGTTTCCCCCATGGAGC	0.677000													12	30					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32382752	32382752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:32382752G>A	ENST00000357033.4	-	36	5307	c.5101C>T	c.(5101-5103)Ctt>Ttt	p.L1701F	DMD_ENST00000378677.2_Missense_Mutation_p.L1697F	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1701	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCATCCAAAAGTGTGTCAGCC	0.373000													23	31					0	0	1	0	0
ADCK3	56997	broad.mit.edu	37	1	227169749	227169749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:227169749C>T	ENST00000366779.1	+	11	3523	c.752C>T	c.(751-753)tCc>tTc	p.S251F	ADCK3_ENST00000366775.1_Missense_Mutation_p.S96F|ADCK3_ENST00000366776.1_Missense_Mutation_p.S176F|ADCK3_ENST00000433743.2_5'UTR|ADCK3_ENST00000366777.3_Missense_Mutation_p.S251F|ADCK3_ENST00000458507.2_5'UTR|ADCK3_ENST00000366778.1_Missense_Mutation_p.S199F|ADCK3_ENST00000478406.1_3'UTR			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	251					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						GTGCTGGGTTCCAGTCCTTTC	0.652000													36	23					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939241	47939241	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47939241G>A	ENST00000402813.3	-	10	1619	c.1477C>T	c.(1477-1479)Cga>Tga	p.R493*	CNGA1_ENST00000514170.1_Nonsense_Mutation_p.R424*|CNGA1_ENST00000544810.1_Nonsense_Mutation_p.R424*|CNGA1_ENST00000420489.2_Nonsense_Mutation_p.R424*|CNGA1_ENST00000358519.4_Nonsense_Mutation_p.R424*			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	424					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTTACATTTCGAAAATGCATA	0.348000													35	71					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129286603	129286603	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:129286603C>T	ENST00000393239.1	-	21	4089	c.3911G>A	c.(3910-3912)tGg>tAg	p.W1304*	PLXND1_ENST00000324093.4_Nonsense_Mutation_p.W1304*			Q9Y4D7	PLXD1_HUMAN	plexin D1	1304					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CGTCTTCTGCCAGTAACGCTC	0.587000													18	8					0	0	1	0	0
C2orf43	60526	broad.mit.edu	37	2	20886691	20886691	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:20886691G>A	ENST00000237822.3	-	7	1029	c.950C>T	c.(949-951)tCc>tTc	p.S317F	C2orf43_ENST00000541941.1_Missense_Mutation_p.S187F|C2orf43_ENST00000435420.2_Missense_Mutation_p.S269F|C2orf43_ENST00000403006.2_Missense_Mutation_p.S187F|C2orf43_ENST00000381090.3_Missense_Mutation_p.S317F|C2orf43_ENST00000440866.2_3'UTR	NM_021925.2	NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	317										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCCTTTAGGGAGTCAGCAAT	0.438000													59	16					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43546829	43546829	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:43546829G>A	ENST00000395891.1	+	22	4330	c.3725G>A	c.(3724-3726)gGa>gAa	p.G1242E	HECW1_ENST00000453890.1_Missense_Mutation_p.G1208E	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1242					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GAAGCCAAAGGATTTGGTCAG	0.493000													21	147					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164857	139164857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:139164857C>T	ENST00000395297.1	-	13	2031	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	621										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TGATCTATTCCCTTTCCTAGA	0.473000										HNSCC(54;0.14)			27	62					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567238	136567238	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:136567238G>A	ENST00000264162.2	-	8	2689	c.2679C>T	c.(2677-2679)ttC>ttT	p.F893F		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	893	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AATCTCTTTCGAACTTGGGTT	0.522000													31	78					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39227957	39227957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39227957G>A	ENST00000340369.3	-	2	3208	c.2980C>T	c.(2980-2982)Cct>Tct	p.P994S	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.P994S	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	994							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GCCTGAGGAGGGCAAGGGGTG	0.602000													16	51					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42882663	42882663	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:42882663G>C	ENST00000025301.2	+	9	5366	c.5191G>C	c.(5191-5193)Gac>Cac	p.D1731H		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1731	Ser-rich.				intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TATTGGTGATGACAGCACTGG	0.363000													16	38					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179337940	179337940	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179337940C>G	ENST00000367618.3	+	3	490	c.103C>G	c.(103-105)Cct>Gct	p.P35A	AXDND1_ENST00000461179.2_Intron|AXDND1_ENST00000457238.2_Missense_Mutation_p.P35A	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	35										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CTTAGGACTTCCTGAGCTAAA	0.363000													5	44					0	0	1	0	0
OR1L4	254973	broad.mit.edu	37	9	125486746	125486746	+	Missense_Mutation	SNP	C	C	T	rs149512495		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:125486746C>T	ENST00000259466.1	+	1	478	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TTCCCTGTTCCGCGTGCTACT	0.483000													94	21					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630579	32630579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32630579C>T	ENST00000242310.4	-	1	5088	c.4999G>A	c.(4999-5001)Gat>Aat	p.D1667N		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1667					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATACATATCAGGAGGCTGA	0.463000													39	49					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5904101	5904101	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:5904101G>A	ENST00000378961.4	+	4	1515	c.1311G>A	c.(1309-1311)gaG>gaA	p.E437E		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	437						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CCAGAGAAGAGAAAAGGTTCT	0.542000													19	101					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236740197	236740197	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:236740197C>T	ENST00000366582.3	-	21	2922	c.2808G>A	c.(2806-2808)agG>agA	p.R936R	HEATR1_ENST00000366581.2_Silent_p.R936R	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	936					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GAATGGCAGCCCTACGAACTT	0.388000													67	68					0	0	1	0	0
IGHV3-23	28442	broad.mit.edu	37	14	106725374	106725374	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106725374G>A	ENST00000390609.2	-	0	256																											CCCTTCCCTGGAGCCTGGCGG	0.592000													29	208					0	0	1	0	0
PCDH8	5100	broad.mit.edu	37	13	53418923	53418923	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:53418923C>T	ENST00000377942.3	-	3	3188	c.2985G>A	c.(2983-2985)cgG>cgA	p.R995R	PCDH8_ENST00000338862.4_Silent_p.R898R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	995					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)		GCAGAGGATCCCGAGGCAGTG	0.592000													14	45					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40497602	40497602	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40497602A>G	ENST00000264657.5	-	4	659	c.347T>C	c.(346-348)cTa>cCa	p.L116P	STAT3_ENST00000404395.3_Missense_Mutation_p.L116P|STAT3_ENST00000585517.1_Missense_Mutation_p.L116P|STAT3_ENST00000588969.1_Missense_Mutation_p.L116P|STAT3_ENST00000389272.3_Missense_Mutation_p.L18P	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	116					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGCAGTCTGTAGAAGGCGTGA	0.463000									Hyperimmunoglobulin E Recurrent Infection Syndrome				6	12					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109806962	109806962	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:109806962C>A	ENST00000271332.3	+	10	5325	c.5264C>A	c.(5263-5265)gCc>gAc	p.A1755D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1755	Laminin G-like 2.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGCGGTGTGGCCCGTGGCTTT	0.677000											OREG0013632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	125	140					4.26851e-46	4.3319e-46	1	1	0
TRIM48	79097	broad.mit.edu	37	11	55032550	55032550	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55032550G>A	ENST00000417545.2	+	2	305	c.219G>A	c.(217-219)aaG>aaA	p.K73K		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	57						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AATGCATAAAGACAATACAGC	0.473000													30	53					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43762347	43762347	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43762347C>T	ENST00000244293.7	-	4	1037	c.971G>A	c.(970-972)tGg>tAg	p.W324*	PSG9_ENST00000270077.3_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Nonsense_Mutation_p.W231*|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000418820.2_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	0	Ig-like C2-type 2.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				TGCTGGGATCCACTTACCAGA	0.458000													41	170					0	0	1	0	0
WDR70	55100	broad.mit.edu	37	5	37516634	37516634	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:37516634C>T	ENST00000265107.4	+	9	1015	c.859C>T	c.(859-861)Cat>Tat	p.H287Y	WDR70_ENST00000510699.1_3'UTR|WDR70_ENST00000504564.1_Missense_Mutation_p.H287Y	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	287										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAATGCTTCATACTGGCTC	0.308000													10	33					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495008	179495008	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179495008T>C	ENST00000589042.1	-	239	44465	c.44241A>G	c.(44239-44241)caA>caG	p.Q14747Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.Q12179Q|TTN_ENST00000460472.2_Silent_p.Q5682Q|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.Q5807Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.Q5874Q|TTN_ENST00000591111.1_Silent_p.Q13106Q|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13106	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATTGGCAGCTTGGAAATCCA	0.398000													34	20					0	0	1	0	0
OR10A7	121364	broad.mit.edu	37	12	55615672	55615672	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55615672C>T	ENST00000326258.1	+	1	864	c.864C>T	c.(862-864)atC>atT	p.I288I		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TAAACCCCATCATCTACGGCC	0.458000													25	32					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832574	72832574	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72832574C>T	ENST00000335464.5	+	10	1401	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Silent_p.F413F|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	413						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGGTGGCCTTCTGCACCCACG	0.672000													26	34					0	0	1	0	0
ITGB6	3694	broad.mit.edu	37	2	160994665	160994665	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:160994665C>T	ENST00000283249.2	-	9	1390	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	ITGB6_ENST00000409872.1_Missense_Mutation_p.G385R|ITGB6_ENST00000428609.2_Missense_Mutation_p.G343R|ITGB6_ENST00000409967.2_Missense_Mutation_p.G385R			P18564	ITB6_HUMAN	integrin, beta 6	385					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AAGTTGAGTCCTTCAGTGTCT	0.433000													26	67					0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983263	142983263	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142983263G>A	ENST00000359333.3	+	2	726	c.213G>A	c.(211-213)caG>caA	p.Q71Q	TMEM139_ENST00000409102.1_Silent_p.Q71Q|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_Silent_p.Q71Q|TMEM139_ENST00000409541.1_Silent_p.Q71Q|TMEM139_ENST00000471161.1_Intron|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000410004.1_Silent_p.Q71Q	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	71						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					AATCAATGCAGACTGAGAGCC	0.537000													38	45					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551680	165551680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:165551680G>A	ENST00000375458.2	-	11	2443	c.2222C>T	c.(2221-2223)tCc>tTc	p.S741F	COBLL1_ENST00000194871.6_Missense_Mutation_p.S846F|COBLL1_ENST00000409184.3_Missense_Mutation_p.S779F|COBLL1_ENST00000392717.2_Missense_Mutation_p.S817F|COBLL1_ENST00000342193.4_Missense_Mutation_p.S779F	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	817										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TATTTCCAAGGATTTGGGAGG	0.378000													29	83					0	0	1	0	0
IQGAP2	10788	broad.mit.edu	37	5	75936888	75936888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:75936888C>T	ENST00000274364.6	+	17	2351	c.2054C>T	c.(2053-2055)tCa>tTa	p.S685L	IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	685					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GCTAGAAAATCATTTTTGCAT	0.393000													10	19					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36122927	36122927	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:36122927G>C	ENST00000303965.4	-	23	4257	c.3768C>G	c.(3766-3768)atC>atG	p.I1256M		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1256	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCATGTGATTGATTTCTGAGC	0.343000													15	11					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262552	45262552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:45262552C>T	ENST00000303230.4	-	8	2201	c.2144G>A	c.(2143-2145)cGa>cAa	p.R715Q		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	715						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R715Q(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGGAAAGTTCGAGCGGCCAG	0.647000													5	29					0	0	1	0	0
CPZ	8532	broad.mit.edu	37	4	8616138	8616138	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8616138G>A	ENST00000429646.2	+	7	3033	c.240G>A	c.(238-240)gaG>gaA	p.E80E	CPZ_ENST00000315782.6_Silent_p.E461E|CPZ_ENST00000360986.4_Silent_p.E472E|CPZ_ENST00000382480.2_Silent_p.E335E			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	472	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TCACGGTAGAGCTGGGCTGTG	0.572000													18	15					0	0	1	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64127960	64127960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64127960G>A	ENST00000528057.1	+	4	446	c.358G>A	c.(358-360)Ggc>Agc	p.G120S	RPS6KA4_ENST00000334205.4_Missense_Mutation_p.G120S|RPS6KA4_ENST00000294261.4_Missense_Mutation_p.G120S	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	120	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						CTATGTGAGCGGCGGGGAGAT	0.642000													3	9					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41790361	41790361	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:41790361G>A	ENST00000396930.3	-	18	5920	c.5377C>T	c.(5377-5379)Cag>Tag	p.Q1793*	KAT6A_ENST00000406337.1_Nonsense_Mutation_p.Q1793*|KAT6A_ENST00000265713.2_Nonsense_Mutation_p.Q1793*	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	1793					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGAGCCAGCTGAGCCAGTCCT	0.527000													101	78					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38859777	38859777	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38859777T>C	ENST00000264651.2	-	1	225	c.169A>G	c.(169-171)Agc>Ggc	p.S57G		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	57	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				AAAGCACCGCTAGACCCCCCA	0.637000													38	24					0	0	1	0	0
RBM46	166863	broad.mit.edu	37	4	155719082	155719082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155719082C>T	ENST00000510397.1	+	3	450	c.271C>T	c.(271-273)Cga>Tga	p.R91*	RBM46_ENST00000514866.1_Nonsense_Mutation_p.R91*|RBM46_ENST00000281722.3_Nonsense_Mutation_p.R91*	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	91	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				ATATGAATTTCGACTTATGAT	0.343000													34	30					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111812	57111812	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57111812G>A	ENST00000454682.1	-	3	3783	c.3502C>T	c.(3502-3504)Cca>Tca	p.P1168S	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCCCCTTTTGGGGGTGGGGTA	0.627000			T	BCL6	NHL								7	219					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062601	9062601	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062601G>A	ENST00000397910.4	-	3	25048	c.24845C>T	c.(24844-24846)tCc>tTc	p.S8282F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8284	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAATGTAGAGGAAACAGGAGA	0.512000													25	24					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25145419	25145419	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25145419G>A	ENST00000332271.5	-	11	1702	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	PIWIL3_ENST00000533313.1_Missense_Mutation_p.P320L|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.P320L	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	429					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCTTCTTCTTGGACTCAATCT	0.353000													21	19					0	0	1	0	0
FBRS	64319	broad.mit.edu	37	16	30676392	30676392	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30676392C>T	ENST00000356166.6	+	9	2688	c.1600C>T	c.(1600-1602)Cga>Tga	p.R534*	FBRS_ENST00000568722.1_Intron|FBRS_ENST00000287468.5_Nonsense_Mutation_p.R14*|FBRS_ENST00000395073.2_5'UTR			Q9HAH7	FBRS_HUMAN	fibrosin	14										ovary(1)	1			Colorectal(24;0.103)			AGGCCTTTTCCGACATAAtgt	0.552000													3	12					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32554740	32554740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:32554740G>A	ENST00000286827.3	-	16	3356	c.2885C>T	c.(2884-2886)cCa>cTa	p.P962L	TIAM1_ENST00000541036.1_Missense_Mutation_p.P902L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	962					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGCCATACCTGGGTTGCTGGT	0.637000													9	12					0	0	1	0	0
IBTK	25998	broad.mit.edu	37	6	82882185	82882185	+	Missense_Mutation	SNP	G	G	A	rs143687532		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:82882185G>A	ENST00000306270.7	-	28	4391	c.3842C>T	c.(3841-3843)cCa>cTa	p.P1281L	IBTK_ENST00000503631.1_Missense_Mutation_p.P1080L|IBTK_ENST00000510291.1_Missense_Mutation_p.P1266L	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1281					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AAAAGTGACTGGGGCTACCAT	0.373000													11	14					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432709	10432709	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10432709T>A	ENST00000245503.5	-	25	3591	c.3207A>T	c.(3205-3207)caA>caT	p.Q1069H	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.Q1069H|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1069					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						TTATGGATTCTTGGGCCAACT	0.378000													16	56					0	0	1	0	0
ZNF140	7699	broad.mit.edu	37	12	133683172	133683172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:133683172C>T	ENST00000355557.2	+	5	2592	c.1309C>T	c.(1309-1311)Ctt>Ttt	p.L437F	ZNF140_ENST00000544426.1_Missense_Mutation_p.L334F|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	437						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GACACACACTCTTGACAACCC	0.378000													27	32					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1267594	1267594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1267594C>T	ENST00000339381.5	+	3	715	c.683C>T	c.(682-684)gCc>gTc	p.A228V		NM_152228.1	NP_689414.1	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	228					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	ATCTTCTCGGCCCTGGCCGCG	0.731000													4	8					0	0	1	0	0
OR4C15	81309	broad.mit.edu	37	11	55322804	55322804	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55322804C>T	ENST00000314644.2	+	1	1022	c.1022C>T	c.(1021-1023)aCt>aTt	p.T341I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TTGATTTACACTTTCAGGAAT	0.338000										HNSCC(20;0.049)			23	47					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179271	33179271	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33179271C>T	ENST00000374656.4	+	5	1000	c.792C>T	c.(790-792)ctC>ctT	p.L264L	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	264	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						AAATTGAGCTCGTGTTCCGGC	0.652000													4	15					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123859365	123859365	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:123859365T>C	ENST00000274008.3	+	8	1488	c.1419T>C	c.(1417-1419)gtT>gtC	p.V473V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	473					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AAAAAAGAGTTGTGGCTTCAC	0.383000													22	122					0	0	1	0	0
SLC2A3	6515	broad.mit.edu	37	12	8074185	8074185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:8074185G>A	ENST00000075120.7	-	10	1555	c.1315C>T	c.(1315-1317)Ctc>Ttc	p.L439F		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	439					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AAGGTAATGAGGAAGCCGGTG	0.448000													14	54					0	0	1	0	0
GALM	130589	broad.mit.edu	37	2	38958934	38958934	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:38958934C>T	ENST00000272252.5	+	6	1086	c.834C>T	c.(832-834)gtC>gtT	p.V278V	GALM_ENST00000410063.1_Silent_p.V130V	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	278					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				AGCCCGGGGTCCAGTTTTACA	0.527000													19	133					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36986360	36986360	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:36986360T>G	ENST00000282516.8	+	10	3577	c.3078T>G	c.(3076-3078)agT>agG	p.S1026R	NIPBL_ENST00000448238.2_Missense_Mutation_p.S1026R|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1026					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATCAAGAAGTTCCCTTAAAC	0.299000													68	31					0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88419742	88419742	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:88419742C>T	ENST00000372071.2	+	7	1151	c.924C>T	c.(922-924)atC>atT	p.I308I	OPN4_ENST00000241891.5_Silent_p.I297I	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	297					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						TGGCCAAGATCATGCTGCTGG	0.622000													45	21					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566593	55566593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55566593C>T	ENST00000373965.2	-	36	5195	c.4801G>A	c.(4801-4803)Ggg>Agg	p.G1601R	PCDH15_ENST00000414778.1_Missense_Mutation_p.G1598R	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GAAAATGGCCCCTTTGATAAT	0.463000										HNSCC(58;0.16)			48	196					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207105086	207105086	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:207105086C>T	ENST00000356495.4	-	9	2253	c.2070G>A	c.(2068-2070)agG>agA	p.R690R	PIGR_ENST00000487208.1_5'UTR	NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	690						extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCCAAATTCCCTGGAGTTCT	0.517000													57	90					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1254578	1254578	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:1254578G>A	ENST00000310581.5	-	15	3257	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	TERT_ENST00000334602.6_Missense_Mutation_p.S1004F|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1067	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACGGCCTCGGAGGGCAGAGG	0.667000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				32	17					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638597	32638597	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:32638597G>A	ENST00000286827.3	-	5	1163	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.S231F	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	231					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GTCACCCAAGGAATTGGCTCT	0.562000													24	84					0	0	1	0	0
PNPLA1	285848	broad.mit.edu	37	6	36269984	36269984	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:36269984C>T	ENST00000394571.2	+	6	1122	c.1122C>T	c.(1120-1122)ttC>ttT	p.F374F	PNPLA1_ENST00000312917.5_Silent_p.F288F|PNPLA1_ENST00000388715.3_Silent_p.F279F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	374	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CTGTATCATTCCCAGCTGTGC	0.572000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	139					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988663	137988663	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:137988663G>A	ENST00000409968.1	+	8	1951	c.1773G>A	c.(1771-1773)agG>agA	p.R591R	THSD7B_ENST00000413152.2_Silent_p.R560R|THSD7B_ENST00000272643.3_Silent_p.R591R|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCCTGAGAGGAAGTCTTGTG	0.483000													30	14					0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70513183	70513183	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:70513183G>A	ENST00000503640.1	-	1	235	c.180C>T	c.(178-180)ttC>ttT	p.F60F	UGT2A1_ENST00000286604.4_Silent_p.F60F|UGT2A1_ENST00000512704.1_Silent_p.F60F|UGT2A1_ENST00000514019.1_Silent_p.F60F	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	60					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGGTGTGATGAAAAGTGCAC	0.378000													17	52					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8175759	8175759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8175759C>T	ENST00000600128.1	-	34	4717	c.4303G>A	c.(4303-4305)Gaa>Aaa	p.E1435K	FBN3_ENST00000601739.1_Missense_Mutation_p.E1435K|FBN3_ENST00000270509.2_Missense_Mutation_p.E1435K			Q75N90	FBN3_HUMAN	fibrillin 3	1435	EGF-like 22; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGGTCCAGTTCGTAGCCACCA	0.607000													60	43					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022746	7022746	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7022746G>A	ENST00000278314.4	-	3	483	c.168C>T	c.(166-168)ttC>ttT	p.F56F	ZNF214_ENST00000536068.1_Silent_p.F56F|ZNF214_ENST00000531083.1_5'UTR	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CTAAGTATCTGAATTTTTCTT	0.373000													25	93					0	0	1	0	0
HIST1H4F	8361	broad.mit.edu	37	6	26240828	26240828	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26240828C>T	ENST00000377745.2	+	1	268	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	59					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CCGCGGTGTTCTTAAGGTGTT	0.572000													12	25					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77442756	77442756	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77442756C>T	ENST00000451710.3	-	7	1016	c.779G>A	c.(778-780)gGa>gAa	p.G260E	TRPM6_ENST00000449912.2_Missense_Mutation_p.G255E|TRPM6_ENST00000376872.3_Missense_Mutation_p.G260E|TRPM6_ENST00000360774.1_Missense_Mutation_p.G260E|TRPM6_ENST00000361255.3_Missense_Mutation_p.G255E|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000376871.3_Missense_Mutation_p.G260E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G260E|TRPM6_ENST00000359047.2_Missense_Mutation_p.G260E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	260					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATTTCATTTCCATACTTGCC	0.512000													19	26					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193031840	193031840	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193031840C>T	ENST00000342358.4	-	19	2418	c.2301G>A	c.(2299-2301)gaG>gaA	p.E767E	ATP13A5-AS1_ENST00000414634.1_RNA	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	767					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CAGGTCCAGTCTCTTGGTTCT	0.527000													18	76					0	0	1	0	0
OPRK1	4986	broad.mit.edu	37	8	54163574	54163574	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:54163574G>A	ENST00000265572.3	-	2	321	c.24C>T	c.(22-24)ttC>ttT	p.F8F	OPRK1_ENST00000520287.1_Silent_p.F8F	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	8					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	GCTCCCCGCGGAAGATCTGGA	0.726000													7	14					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94955960	94955960	+	Silent	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94955960G>C	ENST00000341228.2	-	5	1845	c.1050C>G	c.(1048-1050)ggC>ggG	p.G350G	SERPINA12_ENST00000556881.1_Silent_p.G350G	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	350					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGCTTACCTCGCCCACTTTCA	0.592000													7	26					0	0	1	0	0
SLC2A6	11182	broad.mit.edu	37	9	136341396	136341396	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:136341396G>A	ENST00000371899.4	-	4	602	c.525C>T	c.(523-525)ctC>ctT	p.L175L	SLC2A6_ENST00000485978.1_5'UTR|SLC2A6_ENST00000371897.4_Silent_p.L175L	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	175						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		ACACTGCCATGAGCTGGGGTG	0.632000													28	2					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856132	21856132	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21856132G>A	ENST00000328843.6	+	65	10432	c.10401G>A	c.(10399-10401)acG>acA	p.T3467T	DNAH11_ENST00000409508.3_Silent_p.T3460T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3467	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCATGTTGACGGATGATGCTA	0.478000									Kartagener syndrome				14	27					0	0	1	0	0
LRP10	26020	broad.mit.edu	37	14	23346314	23346314	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23346314C>T	ENST00000359591.4	+	7	2411	c.1720C>T	c.(1720-1722)Cgg>Tgg	p.R574W	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	574	Arg-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CACCCCGGCTCGGGCCTCTGA	0.706000													21	27					0	0	1	0	0
RET	5979	broad.mit.edu	37	10	43610101	43610101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:43610101G>A	ENST00000355710.3	+	11	2285	c.2053G>A	c.(2053-2055)Gtc>Atc	p.V685I	RET_ENST00000340058.5_Missense_Mutation_p.V685I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	685					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GGCCTTCCCGGTCAGCTACTC	0.637000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				16	53					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99513594	99513594	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:99513594G>A	ENST00000261037.3	+	5	1229	c.849G>A	c.(847-849)caG>caA	p.Q283Q	COL8A1_ENST00000273342.4_Silent_p.Q283Q	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	283	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CTGGGCCCCAGGGCCCCCTGG	0.662000													15	29					0	0	1	0	0
OR8H3	390152	broad.mit.edu	37	11	55890768	55890768	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55890768G>A	ENST00000313472.3	+	1	920	c.920G>A	c.(919-921)aGa>aAa	p.R307K		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GTCATGCAGAGAAGACAGGAC	0.348000													25	73					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132958	126132958	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:126132958C>T	ENST00000373631.3	+	7	1627	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	CRB2_ENST00000359999.3_Silent_p.A542A|CRB2_ENST00000373629.2_Silent_p.A210A	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	542	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTGCCCTGCCCGGCTCTGTG	0.672000													42	3					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702450	27702450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27702450C>T	ENST00000438700.3	-	1	847	c.730G>A	c.(730-732)Gaa>Aaa	p.E244K		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	244					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CTTCCCTTTTCCCGCGCCACG	0.622000													28	26					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62688103	62688103	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:62688103C>T	ENST00000281156.4	-	4	629	c.351G>A	c.(349-351)agG>agA	p.R117R		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	117	KH.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCCCACTCTTCCTTAGTTCTT	0.358000													12	23					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370234	56370234	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56370234G>A	ENST00000301295.6	+	3	1897	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	NLRP4_ENST00000587891.1_Missense_Mutation_p.R417K|NLRP4_ENST00000346986.5_Missense_Mutation_p.R492K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	492							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAAAGCAAGGAGAGCACAT	0.418000													38	64					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24342819	24342819	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24342819G>A	ENST00000175238.6	+	10	988	c.905G>A	c.(904-906)gGa>gAa	p.G302E	ADAM7_ENST00000380789.1_Missense_Mutation_p.G302E|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.G74E|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	302	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.G302E(2)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CATGTGCAAGGAATTTCTTAT	0.343000													30	55					0	0	1	0	0
GPANK1	7918	broad.mit.edu	37	6	31630286	31630286	+	Silent	SNP	G	G	A	rs113571875		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31630286G>A	ENST00000375906.1	-	4	1512	c.828C>T	c.(826-828)ccC>ccT	p.P276P	GPANK1_ENST00000375895.2_Silent_p.P276P|GPANK1_ENST00000375893.2_Silent_p.P276P|GPANK1_ENST00000375900.4_Silent_p.P276P|GPANK1_ENST00000375896.4_Silent_p.P276P	NM_001199237.1	NP_001186166.1	O95872	GPAN1_HUMAN	G patch domain and ankyrin repeats 1	276	G-patch.					intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CCTCACCCCGGGGTCCCAGCC	0.647000													90	458					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694575	42694575	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42694575C>T	ENST00000358131.5	+	6	1338	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	TOX2_ENST00000435864.2_Missense_Mutation_p.S273F|TOX2_ENST00000372999.1_Missense_Mutation_p.S353F|TOX2_ENST00000341197.3_Missense_Mutation_p.S395F|TOX2_ENST00000423191.1_Missense_Mutation_p.S353F	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	377	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CCGCCACCCTCCTTCCCGCTC	0.721000													14	26					0	0	1	0	0
TEX101	83639	broad.mit.edu	37	19	43920619	43920619	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43920619C>T	ENST00000602198.1	+	6	799	c.357C>T	c.(355-357)atC>atT	p.I119I	TEX101_ENST00000598265.1_Silent_p.I101I|TEX101_ENST00000253435.7_Silent_p.I119I|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	101						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				CCGGCCTGATCGTGACCTCCT	0.527000													103	134					0	0	1	0	0
SMYD1	150572	broad.mit.edu	37	2	88390635	88390635	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:88390635C>T	ENST00000419482.2	+	4	718	c.633C>T	c.(631-633)aaC>aaT	p.N211N	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.N211N	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GTTGGCCCAACTGTACTGTCA	0.507000													33	64					0	0	1	0	0
OR2T34	127068	broad.mit.edu	37	1	248737718	248737718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248737718C>T	ENST00000328782.2	-	1	362	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACCTCAGCTCCAGCCAGGGT	0.562000													33	59					0	0	1	0	0
UNC93A	54346	broad.mit.edu	37	6	167708075	167708075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:167708075C>T	ENST00000230256.3	+	2	333	c.158C>T	c.(157-159)tCc>tTc	p.S53F	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.S53F	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	53						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGCTCCTGTCCTCCATGTTC	0.617000													43	53					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13941255	13941255	+	Silent	SNP	G	G	A	rs138305620	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:13941255G>A	ENST00000254323.2	+	13	2550	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	ZSWIM4_ENST00000440752.2_Silent_p.A621A	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	787							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCTTCGAGGCGGCCTACCAGA	0.706000													41	65					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114277387	114277387	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:114277387C>T	ENST00000357077.4	+	38	7666	c.7613C>T	c.(7612-7614)cCt>cTt	p.P2538L	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P2505L|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2505					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CCCCTTTCTCCTGACACCCCC	0.537000													26	131					0	0	1	0	0
OR4F6	390648	broad.mit.edu	37	15	102346710	102346710	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:102346710C>T	ENST00000328882.4	+	1	809	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTTCCATTTCCCACATCACAT	0.373000													8	87					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909542	94909542	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94909542G>A	ENST00000334708.3	-	4	1002	c.938C>T	c.(937-939)cCa>cTa	p.P313L	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	313					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGAAAACCTTGGCAAGTGCAA	0.453000													24	34					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702272	27702272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27702272C>T	ENST00000438700.3	-	1	1025	c.908G>A	c.(907-909)gGa>gAa	p.G303E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	303					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAAGATGTATCCTCCGAAGAA	0.597000													22	118					0	0	1	0	0
TET2	54790	broad.mit.edu	37	4	106157383	106157383	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:106157383C>T	ENST00000540549.1	+	3	3144	c.2284C>T	c.(2284-2286)Cac>Tac	p.H762Y	TET2_ENST00000305737.2_Missense_Mutation_p.H762Y|TET2_ENST00000413648.2_Missense_Mutation_p.H762Y|TET2_ENST00000394764.1_Missense_Mutation_p.H762Y|TET2_ENST00000513237.1_Missense_Mutation_p.H783Y|TET2_ENST00000380013.4_Missense_Mutation_p.H762Y|TET2_ENST00000545826.1_Missense_Mutation_p.H762Y			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	762	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GACTTTTCCTCACCCCCAAAG	0.383000			"""Mis N, F"""		MDS								30	18					0	0	1	0	0
ACOT12	134526	broad.mit.edu	37	5	80638562	80638562	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:80638562C>T	ENST00000307624.3	-	11	1085	c.1057G>A	c.(1057-1059)Gac>Aac	p.D353N	ACOT12_ENST00000508234.1_Intron	NM_130767.2	NP_570123.1	Q8WYK0	ACO12_HUMAN	acyl-CoA thioesterase 12	353	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		ACATTGCTGTCACTCAGGGAT	0.403000													31	32					0	0	1	0	0
EML1	2009	broad.mit.edu	37	14	100387194	100387194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:100387194C>T	ENST00000262233.6	+	17	2028	c.1889C>T	c.(1888-1890)tCt>tTt	p.S630F	EML1_ENST00000334192.4_Missense_Mutation_p.S649F|EML1_ENST00000327921.9_Missense_Mutation_p.S618F	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	630						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAACAGCTCTCTGTAATGCGA	0.383000													47	52					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126004129	126004129	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:126004129C>T	ENST00000299308.3	+	4	1244	c.1236C>T	c.(1234-1236)ttC>ttT	p.F412F		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	412						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)		CCGAGATCTTCGTCAGCCAGA	0.517000													22	91					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30126277	30126277	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:30126277C>T	ENST00000449742.2	-	3	730	c.655G>A	c.(655-657)Gat>Aat	p.D219N	TRIM10_ENST00000376704.3_Missense_Mutation_p.D219N	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	219						cytoplasm	zinc ion binding			ovary(1)	1						TCAAATTCATCCCGTTGCCTC	0.502000													133	246					0	0	1	0	0
RHPN2	85415	broad.mit.edu	37	19	33493201	33493201	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:33493201C>T	ENST00000254260.3	-	9	1092	c.1057G>A	c.(1057-1059)Gcg>Acg	p.A353T	RHPN2_ENST00000400226.4_Missense_Mutation_p.A202T	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	353	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding	p.A353T(2)		NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GCCAGGGCCGCGTAGTGGTGG	0.642000													6	50					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133192488	133192488	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133192488G>A	ENST00000388996.4	-	4	1113	c.693C>T	c.(691-693)ttC>ttT	p.F231F	KCNQ3_ENST00000521134.1_Silent_p.F111F|KCNQ3_ENST00000519445.1_Silent_p.F231F	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	231					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGATCTGCAGGAAGCGCAGGC	0.587000													30	65					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170667979	170667979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:170667979C>T	ENST00000523189.1	+	23	2634	c.2470C>T	c.(2470-2472)Cca>Tca	p.P824S	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	824					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCAGATTTATCCAATGAAACT	0.418000			T	TRD@	ALL								114	39					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40420140	40420140	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40420140G>A	ENST00000221347.6	-	6	2861	c.2854C>T	c.(2854-2856)Ccc>Tcc	p.P952S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	952	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTTGGAAGGGCAGATACTGA	0.577000													29	22					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790629	4790629	+	Missense_Mutation	SNP	C	C	T	rs149687850		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4790629C>T	ENST00000380383.1	-	1	539	c.540G>A	c.(538-540)atG>atA	p.M180I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.M173I			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	173						integral to membrane	olfactory receptor activity	p.M173I(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAAGGGCATTCATTCTACAGA	0.383000													16	45					0	0	1	0	0
BIVM	54841	broad.mit.edu	37	13	103474477	103474477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:103474477C>T	ENST00000257336.1	+	7	1548	c.869C>T	c.(868-870)cCt>cTt	p.P290L	BIVM-ERCC5_ENST00000602836.1_Silent_p.A261A|BIVM_ENST00000448849.2_Missense_Mutation_p.P61L|BIVM_ENST00000419638.1_Missense_Mutation_p.P290L	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing											endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTATATAAGCCTCATGGGAAG	0.368000													15	32					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921237	24921237	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24921237C>T	ENST00000329468.2	+	1	697	c.223C>T	c.(223-225)Cct>Tct	p.P75S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GTGTCCTCTCCCTCGGGCTGC	0.711000													13	43					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54871680	54871680	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54871680C>T	ENST00000391743.3	-	3	591		c.e3-1		LAIR1_ENST00000474878.1_Intron|LAIR1_ENST00000434277.2_Splice_Site|LAIR1_ENST00000313038.6_Splice_Site|LAIR1_ENST00000391742.2_Splice_Site|LAIR1_ENST00000348231.4_Intron|LAIR1_ENST00000463489.1_Splice_Site			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1							integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCAGAGGTTTCTGTAAACAGG	0.612000													12	70					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42168820	42168820	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42168820C>T	ENST00000444063.1	+	17	2065	c.1933C>T	c.(1933-1935)Ctc>Ttc	p.L645F	L3MBTL1_ENST00000427442.2_Missense_Mutation_p.L713F|L3MBTL1_ENST00000418998.1_Missense_Mutation_p.L713F|L3MBTL1_ENST00000373135.3_Missense_Mutation_p.L645F|L3MBTL1_ENST00000373134.1_Missense_Mutation_p.L650F			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	645					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						GCACCAGTCCCTCTTCATGTC	0.622000													17	19					0	0	1	0	0
HIRA	7290	broad.mit.edu	37	22	19385519	19385519	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:19385519G>A	ENST00000263208.5	-	6	745	c.489C>T	c.(487-489)ttC>ttT	p.F163F	HIRA_ENST00000340170.4_Silent_p.F163F|HIRA_ENST00000546308.1_Silent_p.F119F|HIRA_ENST00000541063.1_Silent_p.F119F	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	163					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCAGACCTGGGAACTTTACAG	0.532000													15	48					0	0	1	0	0
PUSL1	126789	broad.mit.edu	37	1	1244951	1244951	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1244951T>G	ENST00000379031.5	+	4	518	c.441T>G	c.(439-441)ttT>ttG	p.F147L	PUSL1_ENST00000470520.1_3'UTR	NM_153339.1	NP_699170.1	Q8N0Z8	PUSL1_HUMAN	pseudouridylate synthase-like 1	147					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			lung(3)|skin(1)|urinary_tract(1)	5	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCGGTGTTTGAACGCAACC	0.687000													8	20					0	0	1	0	0
AMTN	401138	broad.mit.edu	37	4	71390640	71390640	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71390640C>T	ENST00000339336.4	+	5	386	c.256C>T	c.(256-258)Ctg>Ttg	p.L86L	AMTN_ENST00000504451.1_Silent_p.L85L	NM_212557.2	NP_997722.1	Q6UX39	AMTN_HUMAN	amelotin	86					biomineral tissue development|cell adhesion|odontogenesis of dentine-containing tooth	basal lamina|cell-cell junction				NS(3)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)|skin(1)	19			Lung(101;0.235)			CCCATTGACCCTGGGAGGGTT	0.448000													17	37					0	0	1	0	0
GSPT1	2935	broad.mit.edu	37	16	11980332	11980332	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:11980332A>T	ENST00000434724.2	-	9	1448	c.1249T>A	c.(1249-1251)Tac>Aac	p.Y417N	GSPT1_ENST00000420576.2_Missense_Mutation_p.Y279N|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.Y416N|GSPT1_ENST00000563468.1_Missense_Mutation_p.Y279N|GSPT1_ENST00000564790.1_5'UTR	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085.2	P15170	ERF3A_HUMAN	G1 to S phase transition 1	279					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						ACTTACATGTACCAAGGACAG	0.343000													8	16					0	0	1	0	0
ZNF683	257101	broad.mit.edu	37	1	26694168	26694168	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:26694168C>T	ENST00000436292.1	-	3	355	c.235G>A	c.(235-237)Gac>Aac	p.D79N	ZNF683_ENST00000349618.3_Missense_Mutation_p.D79N|ZNF683_ENST00000403843.1_Missense_Mutation_p.D79N|ZNF683_ENST00000374204.1_Missense_Mutation_p.D79N			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGGTCCAGGTCCTGTAGGCAG	0.652000													6	9					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248344280	248344280	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248344280C>T	ENST00000359682.2	+	1	993	c.993C>T	c.(991-993)tcC>tcT	p.S331S		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	331					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTCTAATATCCATCTTTTTCT	0.313000													72	79					0	0	1	0	0
CCDC67	159989	broad.mit.edu	37	11	93097404	93097404	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:93097404C>T	ENST00000298050.3	+	5	476	c.376C>T	c.(376-378)Cca>Tca	p.P126S		NM_181645.3	NP_857596.2	Q05D60	CCD67_HUMAN	coiled-coil domain containing 67	126										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AAAAGAATTACCACACCTTAA	0.294000													15	7					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25458849	25458849	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:25458849C>T	ENST00000424208.1	+	0	2694				SNORD115-24_ENST00000363528.1_RNA|SNHG14_ENST00000424333.1_RNA	NR_003305.1																						ACTTAAAAATCATGCTCAATA	0.498000													64	99					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131669450	131669450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:131669450C>T	ENST00000259324.5	+	3	530	c.7C>T	c.(7-9)Ccg>Tcg	p.P3S	LRRC8A_ENST00000372599.3_Missense_Mutation_p.P3S|LRRC8A_ENST00000372600.4_Missense_Mutation_p.P3S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	3					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AACCATGATTCCGGTGACAGA	0.542000													23	1					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51676017	51676017	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:51676017G>A	ENST00000335449.6	+	4	525	c.469G>A	c.(469-471)Gga>Aga	p.G157R	GLDN_ENST00000396399.2_Missense_Mutation_p.G33R	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	157	Collagen-like 1.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		AGGACACAACGGATTGGATGG	0.423000													23	23					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44249420	44249420	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:44249420G>A	ENST00000262419.6	-	2	560	c.90C>T	c.(88-90)tcC>tcT	p.S30S	KANSL1_ENST00000574590.1_Silent_p.S30S|KANSL1_ENST00000432791.1_Silent_p.S30S|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.S30S|KANSL1_ENST00000572904.1_Silent_p.S30S	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	30						MLL1 complex	protein binding										CACTGCCAGGGGACAAGGTAG	0.552000													24	100					0	0	1	0	0
DPPA2	151871	broad.mit.edu	37	3	109027097	109027097	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:109027097G>A	ENST00000478945.1	-	6	686	c.440C>T	c.(439-441)tCg>tTg	p.S147L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	147						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCGTTTCCTCGAACATCGCTG	0.428000													12	39					0	0	1	0	0
NLGN4Y	22829	broad.mit.edu	37	Y	16734109	16734109	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:16734109C>T	ENST00000297967.5	+	1	209	c.110C>T	c.(109-111)aCc>aTc	p.T37I	NLGN4Y_ENST00000476359.1_3'UTR	NM_001164238.1	NP_001157710.1	Q8NFZ3	NLGNY_HUMAN	neuroligin 4, Y-linked	37					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						ATCAAGTTCACCCTCATTGAC	0.468000													14	23					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40877386	40877386	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40877386G>A	ENST00000373198.3	-	15	2545	c.2310C>T	c.(2308-2310)atC>atT	p.I770I	PTPRT_ENST00000373201.1_Silent_p.I751I|PTPRT_ENST00000356100.2_Silent_p.I770I|PTPRT_ENST00000373184.1_Silent_p.I751I|PTPRT_ENST00000373190.1_Silent_p.I751I|PTPRT_ENST00000373193.3_Silent_p.I751I|PTPRT_ENST00000373187.1_Silent_p.I751I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	751					homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGAGGCCAGCGATCACGCCAG	0.552000													14	49					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42146303	42146303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42146303C>T	ENST00000320955.6	-	57	9946	c.9719G>A	c.(9718-9720)gGa>gAa	p.G3240E		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3240					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTGTGGCCTCCGTCCTCCCC	0.652000													3	8					0	0	1	0	0
OR2V2	285659	broad.mit.edu	37	5	180582855	180582855	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:180582855G>A	ENST00000328275.1	+	1	913	c.913G>A	c.(913-915)Ggg>Agg	p.G305R		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGAGGAAGGGGCTGGACCG	0.567000													38	12					0	0	1	0	0
PCDHA1	56147	broad.mit.edu	37	5	140167118	140167118	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140167118C>T	ENST00000504120.2	+	1	1243	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R415C|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R415C	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGATCGCGAGAGCCT	0.637000													97	49					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62289243	62289243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:62289243G>A	ENST00000519846.1	+	4	1007	c.535G>A	c.(535-537)Ggc>Agc	p.G179S	CLVS1_ENST00000325897.4_Missense_Mutation_p.G179S|CLVS1_ENST00000518592.1_5'UTR			Q8IUQ0	CLVS1_HUMAN	clavesin 1	179	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCAGATAAATGGCTTCATTTT	0.443000													27	43					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33638555	33638555	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:33638555A>G	ENST00000361680.2	+	4	559	c.481A>G	c.(481-483)Att>Gtt	p.I161V	WDR88_ENST00000592765.1_Missense_Mutation_p.H160R|WDR88_ENST00000355868.3_Missense_Mutation_p.I161V			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	161										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TTCCAGAGTCATTGCCGCATC	0.542000													14	27					0	0	1	0	0
CLEC1A	51267	broad.mit.edu	37	12	10233922	10233922	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10233922G>A	ENST00000315330.4	-	3	367	c.305C>T	c.(304-306)tCt>tTt	p.S102F	CLEC1A_ENST00000420265.2_Intron|CLEC1A_ENST00000457018.2_Missense_Mutation_p.S69F	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	102					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GACTTGAAGAGATTGCAACTC	0.423000													22	52					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249356	52249356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52249356G>A	ENST00000595042.1	-	3	1033	c.892C>T	c.(892-894)Ccc>Tcc	p.P298S	FPR1_ENST00000304748.4_Missense_Mutation_p.P298S	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	298					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	TAGAGCATGGGGTTGAGGCAG	0.547000													34	44					0	0	1	0	0
NUTM2F	54754	broad.mit.edu	37	9	97084565	97084565	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:97084565C>T	ENST00000335456.7	-	3	780	c.760G>A	c.(760-762)Gag>Aag	p.E254K	NUTM2F_ENST00000341207.4_Missense_Mutation_p.E254K|NUTM2F_ENST00000253262.4_Missense_Mutation_p.E254K					NUT family member 2F																		AGTCCCTCCTCCAGCGTCATG	0.617000													8	14					0	0	1	0	0
DGKG	1608	broad.mit.edu	37	3	185882805	185882805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:185882805G>A	ENST00000265022.3	-	23	2637	c.2098C>T	c.(2098-2100)Ctc>Ttc	p.L700F	DGKG_ENST00000544847.1_Missense_Mutation_p.L641F|DGKG_ENST00000344484.4_Missense_Mutation_p.L675F|DGKG_ENST00000382164.4_Missense_Mutation_p.L661F	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	700					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TGGTCACTGAGGTCTGCAGAG	0.557000													17	50					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770831	35770831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:35770831C>T	ENST00000187397.4	+	15	1718	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	ARPP21_ENST00000337271.5_Missense_Mutation_p.S367L|ARPP21_ENST00000444190.1_Missense_Mutation_p.S367L|ARPP21_ENST00000458225.1_Missense_Mutation_p.S387L|ARPP21_ENST00000417925.1_Missense_Mutation_p.S387L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	421	Ser-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCCTCAGGATCGCTGTCCCGC	0.537000													14	53					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487368	63487368	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63487368T>G	ENST00000377819.5	+	3	1548	c.1394T>G	c.(1393-1395)gTg>gGg	p.V465G	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.V353G|RTN3_ENST00000339997.4_Missense_Mutation_p.V446G|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	465					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GGTTCTGGAGTGGCCACAGTG	0.458000													14	69					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418034	105418034	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105418034G>A	ENST00000333244.5	-	7	3873	c.3754C>T	c.(3754-3756)Cct>Tct	p.P1252S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1252						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCAAACTAGGCATCTGCACC	0.627000													93	96					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196759738	196759738	+	Missense_Mutation	SNP	G	G	A	rs142469040		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196759738G>A	ENST00000312428.6	-	30	4958	c.4858C>T	c.(4858-4860)Cgt>Tgt	p.R1620C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1620	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1620C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTAAGACACGATATGCACTA	0.323000													11	15					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51352496	51352496	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:51352496C>T	ENST00000266037.9	+	32	3362	c.3339C>T	c.(3337-3339)atC>atT	p.I1113I		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1113						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TACGGAATATCATGATTCCCA	0.448000													24	13					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605096	140605096	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140605096C>T	ENST00000239449.4	+	1	2019	c.2019C>T	c.(2017-2019)ctC>ctT	p.L673L	PCDHB14_ENST00000515856.2_Silent_p.L520L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		673					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCGCTCCCTGAGGCGG	0.692000													97	47					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9076700	9076700	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9076700G>A	ENST00000397910.4	-	3	10949	c.10746C>T	c.(10744-10746)acC>acT	p.T3582T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3583	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGAAGACCAGGTGGAAGGGT	0.493000													42	51					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49444278	49444278	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49444278G>A	ENST00000301067.7	-	11	3092	c.3093C>T	c.(3091-3093)tcC>tcT	p.S1031S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGGAACCAGGGAATGCTGAA	0.612000													12	68					0	0	1	0	0
HS3ST3B1	9953	broad.mit.edu	37	17	14248422	14248422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:14248422C>T	ENST00000360954.2	+	2	1068	c.632C>T	c.(631-633)cCt>cTt	p.P211L		NM_006041.1	NP_006032.1	Q9Y662	HS3SB_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3B1	211					heparan sulfate proteoglycan biosynthetic process, enzymatic modification	Golgi membrane|integral to plasma membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			large_intestine(3)|lung(3)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0887)		CGGGAGGCCCCTGCGCGCATC	0.617000													5	11					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123152385	123152385	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:123152385G>A	ENST00000466202.1	-	2	586	c.10C>T	c.(10-12)Caa>Taa	p.Q4*	IQUB_ENST00000488987.1_Intron|IQUB_ENST00000324698.6_Nonsense_Mutation_p.Q4*|IQUB_ENST00000434450.1_Nonsense_Mutation_p.Q4*			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	4				Q -> R (in Ref. 1; BAC04074).						breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTCTCCTGTTGATTAGACATT	0.328000													5	25					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107782406	107782406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:107782406C>T	ENST00000311955.3	-	1	67	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	5					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding	p.E5K(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTTTCCTTTTCGCCCGGAGCC	0.592000													25	43					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20793112	20793112	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:20793112G>A	ENST00000404938.2	+	27	4211	c.3559G>A	c.(3559-3561)Gat>Aat	p.D1187N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D742N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	742					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TTCAGCCCTCGATAATGACAG	0.393000													31	84					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939282	22939282	+	Silent	SNP	C	C	T	rs74170735		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22939282C>T	ENST00000397104.3	-	7	2888	c.2889G>A	c.(2887-2889)agG>agA	p.R963R						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TATGAATTATCCTATGTTTAG	0.353000													7	13					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1233952	1233952	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1233952C>T	ENST00000354700.5	-	11	1060	c.858G>A	c.(856-858)tgG>tgA	p.W286*	ACAP3_ENST00000353662.3_Nonsense_Mutation_p.W244*	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	286	PH.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CTCACCGGTTCCATGTCTTGA	0.652000													13	21					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149493597	149493597	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149493597G>A	ENST00000378016.2	+	0	6673							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGGGCTGCGAGCCAGGTAC	0.667000													25	92					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72184533	72184533	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:72184533C>T	ENST00000537465.1	-	5	768	c.610G>A	c.(610-612)Ggg>Agg	p.G204R	PMFBP1_ENST00000237353.10_Missense_Mutation_p.G204R|PMFBP1_ENST00000355636.6_Missense_Mutation_p.G59R			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	204										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGAGTTCCCCCTGCAACATC	0.527000													66	13					0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133487006	133487006	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:133487006C>T	ENST00000402696.3	+	13	2105	c.1620C>T	c.(1618-1620)ttC>ttT	p.F540F	TF_ENST00000264998.3_Silent_p.F413F	NM_001063.3	NP_001054.1	P02787	TRFE_HUMAN	transferrin	540	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	CAGGCGCTTTCAGGTGAGTCT	0.423000													31	10					0	0	1	0	0
PRKD2	25865	broad.mit.edu	37	19	47181631	47181631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47181631G>A	ENST00000595515.1	-	17	2689	c.2360C>T	c.(2359-2361)cCa>cTa	p.P787L	PRKD2_ENST00000433867.1_Intron|PRKD2_ENST00000291281.4_Intron|PRKD2_ENST00000600194.1_Intron|PRKD2_ENST00000601806.1_Intron			Q9BZL6	KPCD2_HUMAN	protein kinase D2	779	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		ACCCGCCCATGGGGTAGGCGG	0.667000													10	15					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14512303	14512303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14512303G>T	ENST00000242786.5	+	10	1083	c.1003G>T	c.(1003-1005)Gaa>Taa	p.E335*	CD97_ENST00000358600.3_Nonsense_Mutation_p.E242*|CD97_ENST00000357355.3_Nonsense_Mutation_p.E286*	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	335					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CTCAAACCTTGAAGATATCAT	0.577000													22	26					6.44725e-10	6.49118e-10	1	1	0
HEPH	9843	broad.mit.edu	37	X	65420575	65420575	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:65420575C>T	ENST00000519389.1	+	12	2399	c.2220C>T	c.(2218-2220)atC>atT	p.I740I	HEPH_ENST00000419594.1_Intron|HEPH_ENST00000343002.2_Silent_p.I686I|HEPH_ENST00000374727.3_Silent_p.I689I|HEPH_ENST00000336279.5_Silent_p.I419I|HEPH_ENST00000441993.2_Silent_p.I689I			Q9BQS7	HEPH_HUMAN	hephaestin	686	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TCATGGCCATCATGCAGCCTG	0.547000													10	1					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83936900	83936900	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:83936900C>T	ENST00000345382.2	-	2	269	c.184G>A	c.(184-186)Gga>Aga	p.G62R	BNC1_ENST00000569704.1_Missense_Mutation_p.G55R|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	62					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GCCACCCATCCATGCTTGCAT	0.418000													46	43					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93979289	93979289	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:93979289G>A	ENST00000369303.4	-	7	1723	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	513	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCCGAATCTGGAAAACATACA	0.398000													20	28					0	0	1	0	0
CRTC1	23373	broad.mit.edu	37	19	18870861	18870861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18870861C>T	ENST00000338797.6	+	9	782	c.757C>T	c.(757-759)Ccc>Tcc	p.P253S	CRTC1_ENST00000321949.8_Missense_Mutation_p.P237S|CRTC1_ENST00000601916.1_Missense_Mutation_p.P162S|CRTC1_ENST00000594658.1_Missense_Mutation_p.P196S	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	237					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AGCCCTGATCCCCGCCACCCA	0.687000													43	55					0	0	1	0	0
GSKIP	51527	broad.mit.edu	37	14	96848752	96848752	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96848752C>T	ENST00000556095.1	+	3	1980	c.168C>T	c.(166-168)agC>agT	p.S56S	GSKIP_ENST00000554182.1_Silent_p.S56S|GSKIP_ENST00000438650.1_Silent_p.S56S|GSKIP_ENST00000555181.1_Silent_p.S56S	NM_001271904.1	NP_001258833.1			GSK3B interacting protein																		TCTCGAAAAGCCTGCGGTGTG	0.433000													13	58					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22142976	22142976	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:22142976G>A	ENST00000389398.5	+	19	1894	c.1798G>A	c.(1798-1800)Gac>Aac	p.D600N	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	600	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TGTGGAAGTAGACTTCAAGGA	0.617000													9	6					0	0	1	0	0
PPIP5K1	9677	broad.mit.edu	37	15	43827033	43827033	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43827033G>A	ENST00000420765.1	-	31	4323	c.4141C>T	c.(4141-4143)Cag>Tag	p.Q1381*	PPIP5K1_ENST00000381885.1_Nonsense_Mutation_p.Q1377*|PPIP5K1_ENST00000360301.4_Nonsense_Mutation_p.Q1356*|PPIP5K1_ENST00000360135.4_Nonsense_Mutation_p.Q1354*|PPIP5K1_ENST00000381879.4_Nonsense_Mutation_p.Q1357*|PPIP5K1_ENST00000396923.3_Nonsense_Mutation_p.Q1381*|PPIP5K1_ENST00000348806.6_Nonsense_Mutation_p.Q1354*|PPIP5K1_ENST00000334933.4_Nonsense_Mutation_p.Q1356*	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1381					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TGGTATGGCTGGATGACCTCC	0.527000													46	81					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810601	123810601	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123810601C>T	ENST00000307033.2	+	1	352	c.278C>T	c.(277-279)tCc>tTc	p.S93F		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTACCATTTCCTTTGGTGGA	0.468000													42	4					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141955432	141955432	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141955432C>T	ENST00000552471.1	-	2	421	c.102G>A	c.(100-102)ttG>ttA	p.L34L	PRSS58_ENST00000547058.2_Silent_p.L34L			Q8IYP2	PRS58_HUMAN	protease, serine, 58	34	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGTCAGATTTCAAATAGACCA	0.468000													24	25					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774237	31774237	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:31774237G>A	ENST00000543095.2	-	32	5297	c.5113C>T	c.(5113-5115)Cct>Tct	p.P1705S	HEATR5A_ENST00000439727.1_Missense_Mutation_p.P1412S|HEATR5A_ENST00000439348.1_Missense_Mutation_p.P1699S|HEATR5A_ENST00000389961.3_Missense_Mutation_p.P1699S	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1699							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GTCAATTTAGGGTTTAATTCT	0.443000													51	113					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10404958	10404958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10404958C>T	ENST00000226207.5	-	26	3395	c.3301G>A	c.(3301-3303)Gaa>Aaa	p.E1101K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1101						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGGGCTTGTTCATCTTCAATC	0.378000													38	17					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57734665	57734665	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:57734665G>A	ENST00000281282.5	+	4	1870	c.1792G>A	c.(1792-1794)Gga>Aga	p.G598R		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	598						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		GAGCGCCCAAGGAAATAACCA	0.383000													9	58					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347416	140347416	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140347416C>T	ENST00000289269.5	+	1	1597	c.1065C>T	c.(1063-1065)atC>atT	p.I355I	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		355	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGGACATCGTGGACGTGA	0.577000													47	15					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58135834	58135834	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58135834G>A	ENST00000257897.3	-	1	106	c.21C>T	c.(19-21)ttC>ttT	p.F7F	TSPAN31_ENST00000553221.1_Intron	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	0	Interaction with EPB41L1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAGCTACAACGAACTGCCTCT	0.597000													28	79					0	0	1	0	0
SYCN	342898	broad.mit.edu	37	19	39694680	39694680	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39694680T>C	ENST00000318438.6	-	1	226	c.215A>G	c.(214-216)aAc>aGc	p.N72S		NM_001080468.2	NP_001073937.1	Q0VAF6	SYCN_HUMAN	syncollin	72					exocytosis	transport vesicle membrane				endometrium(1)|kidney(1)	2	all_cancers(60;7.32e-07)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|all_epithelial(25;8.97e-07)|Ovarian(47;0.0454)		Epithelial(26;1.34e-25)|all cancers(26;9.31e-23)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			GTTGGCCCAGTTGGAGGGCAG	0.662000													6	23					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121819	38121819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:38121819C>T	ENST00000406386.3	+	7	3511	c.3256C>T	c.(3256-3258)Ccc>Tcc	p.P1086S	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1086					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGACCCCTTCCCCTTCCTCCC	0.622000													48	30					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13776741	13776741	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13776741G>A	ENST00000265104.4	-	55	9284	c.9180C>T	c.(9178-9180)ttC>ttT	p.F3060F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3060	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGCACCTGGGGAATTCTTTTT	0.453000									Kartagener syndrome				79	32					0	0	1	0	0
PDIA4	9601	broad.mit.edu	37	7	148702420	148702420	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:148702420G>A	ENST00000286091.4	-	9	1567	c.1335C>T	c.(1333-1335)ttC>ttT	p.F445F		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	445					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			TGTACTCAGGGAAGTCCTTGG	0.587000											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	60					0	0	1	0	0
PITPNM3	83394	broad.mit.edu	37	17	6358673	6358673	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:6358673G>A	ENST00000262483.8	-	20	2997	c.2910C>T	c.(2908-2910)ttC>ttT	p.F970F	ACKR6_ENST00000421306.3_Silent_p.F934F	NM_031220.3	NP_112497.2																					GCACCGACTCGAACTTGGGGG	0.741000													3	14					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49701545	49701545	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49701545C>T	ENST00000433368.2	-	5	432	c.363G>A	c.(361-363)gaG>gaA	p.E121E	CRISP3_ENST00000393666.1_Silent_p.E98E|CRISP3_ENST00000423399.2_Silent_p.E8E|CRISP3_ENST00000263045.4_Silent_p.E111E|CRISP3_ENST00000371159.4_Silent_p.E129E	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	98					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TGTAGAGATTCTCACCACATT	0.428000													84	59					0	0	1	0	0
KLHL4	56062	broad.mit.edu	37	X	86890731	86890731	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:86890731C>T	ENST00000373119.4	+	9	2026	c.1881C>T	c.(1879-1881)gcC>gcT	p.A627A	KLHL4_ENST00000373114.4_Silent_p.A627A	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	627						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGCATGATGCCCCTGCTTCCA	0.413000													15	13					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10521693	10521693	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:10521693A>G	ENST00000444303.2	+	10	1613	c.1141A>G	c.(1141-1143)Aag>Gag	p.K381E	AMPD3_ENST00000396554.3_Missense_Mutation_p.K549E|AMPD3_ENST00000530864.1_3'UTR	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	540					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GTTTTCCGACAAGAGCCCAAA	0.567000													24	37					0	0	1	0	0
PDHA2	5161	broad.mit.edu	37	4	96761322	96761322	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:96761322C>T	ENST00000295266.4	+	1	84	c.21C>T	c.(19-21)tcC>tcT	p.S7S		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	7					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTTCATCTCCCGCGTGTTGA	0.567000													26	19					0	0	1	0	0
ZNF699	374879	broad.mit.edu	37	19	9406452	9406452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9406452G>A	ENST00000591998.1	-	6	1856	c.1628C>T	c.(1627-1629)cCc>cTc	p.P543L	ZNF699_ENST00000308650.3_Missense_Mutation_p.P543L			Q32M78	ZN699_HUMAN	zinc finger protein 699	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGGGCTGAGGGATAAATAAA	0.413000													10	20					0	0	1	0	0
RNASEH2C	84153	broad.mit.edu	37	11	65487831	65487831	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65487831G>C	ENST00000308418.4	-	2	418	c.230C>G	c.(229-231)cCt>cGt	p.P77R	RNASEH2C_ENST00000527610.1_Missense_Mutation_p.P77R|RNASEH2C_ENST00000528220.1_5'UTR	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	77					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						CACGAGGCCAGGCGGCACCGC	0.647000													8	77					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474868	179474868	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179474868C>T	ENST00000589042.1	-	271	51609	c.51385G>A	c.(51385-51387)Gga>Aga	p.G17129R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14561R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8064R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8189R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8256R|TTN_ENST00000591111.1_Missense_Mutation_p.G15488R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15488	Ig-like 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCTCCTCCACCAACCTTG	0.403000													39	40					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415882	57415882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57415882C>T	ENST00000313949.7	+	1	1110	c.721C>T	c.(721-723)Ccc>Tcc	p.P241S	GNAS_ENST00000371098.2_Missense_Mutation_p.P241S|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P241S|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGGACCCATCCCCATCCGGCG	0.612000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			4	41					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325033	9325033	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9325033G>A	ENST00000308682.2	-	1	509	c.481C>T	c.(481-483)Cta>Tta	p.L161L		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						TTCATCAGTAGAATATGAACC	0.527000													40	26					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546689	11546689	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11546689G>A	ENST00000389362.4	-	3	358	c.323C>T	c.(322-324)tCc>tTc	p.S108F	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTCGGGACTTGTCTCC	0.602000													195	394					0	0	1	0	0
IRF6	3664	broad.mit.edu	37	1	209961873	209961873	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209961873G>A	ENST00000367021.3	-	9	1468	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	IRF6_ENST00000542854.1_Silent_p.I337I	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	432					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		GCTGAGCAACGATGTTATCCT	0.557000										HNSCC(57;0.16)			27	101					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155506938	155506938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155506938C>T	ENST00000302053.3	-	5	1721	c.1643G>A	c.(1642-1644)gGc>gAc	p.G548D	FGA_ENST00000403106.3_Missense_Mutation_p.G548D	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	548					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGATTCTGAGCCCCTAGACTC	0.453000													51	51					0	0	1	0	0
PTPLAD2	401494	broad.mit.edu	37	9	21011630	21011630	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:21011630T>C	ENST00000495827.1	-	5	493	c.448A>G	c.(448-450)Aca>Gca	p.T150A	PTPLAD2_ENST00000513293.2_Missense_Mutation_p.T150A	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	150					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		ATCCATAGTGTTTGACTGAGC	0.378000													14	7					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113212422	113212422	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:113212422G>A	ENST00000401783.2	-	24	4356	c.4020C>T	c.(4018-4020)acC>acT	p.T1340T	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.T1340T|SVEP1_ENST00000374469.1_Silent_p.T1317T	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1340	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCCACATCGGGTACCCAAAA	0.463000													130	17					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153149864	153149864	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:153149864C>T	ENST00000285900.5	+	13	2502	c.2159C>T	c.(2158-2160)tCc>tTc	p.S720F	GRIA1_ENST00000518783.1_Missense_Mutation_p.S730F|GRIA1_ENST00000340592.5_Missense_Mutation_p.S720F|GRIA1_ENST00000521843.2_Missense_Mutation_p.S651F|GRIA1_ENST00000518142.1_Missense_Mutation_p.S640F|GRIA1_ENST00000448073.4_Missense_Mutation_p.S730F	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	720					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTCCTGGAGTCCACCATGAAT	0.502000													15	42					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364465	5364465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5364465G>A	ENST00000300773.2	-	1	344	c.290C>T	c.(289-291)tCc>tTc	p.S97F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTAGGCCTGGGAAAAGCAGGC	0.547000													8	36					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111881	57111881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57111881G>A	ENST00000454682.1	-	3	3714	c.3433C>T	c.(3433-3435)Cca>Tca	p.P1145S	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GCCCCTTTTGGGGGTGGGGTA	0.627000			T	BCL6	NHL								98	111					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160853229	160853229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:160853229G>A	ENST00000326245.3	-	3	261	c.146C>T	c.(145-147)cCt>cTt	p.P49L		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	49	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding	p.P49H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AAATGCACTAGGACATTCGTC	0.408000													15	170					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79366132	79366132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79366132G>A	ENST00000350881.2	+	11	1541	c.1351G>A	c.(1351-1353)Gga>Aga	p.G451R	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G360R|CTD-2201I18.1_ENST00000514042.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	451	EGF-like 4.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTTACAGTGTGGAGTCGGTTG	0.552000													14	18					0	0	1	0	0
SEPT12	124404	broad.mit.edu	37	16	4827818	4827818	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:4827818C>T	ENST00000268231.8	-	10	1320	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	SEPT12_ENST00000396693.5_Missense_Mutation_p.D307N	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	353					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TCATCAGAATCGTCATGGGCC	0.662000													5	1					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48510838	48510838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48510838C>T	ENST00000446524.1	+	1	570	c.494C>T	c.(493-495)cCa>cTa	p.P165L		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TATGGGCTCCCATTCTGTGGC	0.448000													21	93					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870721	51870721	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:51870721G>C	ENST00000371497.5	+	2	1611	c.724G>C	c.(724-726)Gat>Cat	p.D242H	TSHZ2_ENST00000603338.2_Missense_Mutation_p.D239H|TSHZ2_ENST00000329613.6_Missense_Mutation_p.D239H	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	242					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CCACTATCAAGATGACAACCG	0.522000													14	52					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12144533	12144533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:12144533G>A	ENST00000263932.2	+	2	298	c.76G>A	c.(76-78)Gag>Aag	p.E26K	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3	NP_001234.2	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	26					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		TCGACCCTTCGAGGACACCTG	0.612000													56	8					0	0	1	0	0
TIMMDC1	51300	broad.mit.edu	37	3	119236139	119236139	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:119236139C>T	ENST00000494664.1	+	6	886	c.684C>T	c.(682-684)ctC>ctT	p.L228L	TIMMDC1_ENST00000493694.1_Silent_p.L94L	NM_016589.3	NP_057673.2	Q9NPL8	TIDC1_HUMAN	translocase of inner mitochondrial membrane domain containing 1	228						integral to membrane|mitochondrial inner membrane	protein transporter activity			autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	15						GAAAGGCACTCCATGAGCTAA	0.468000													27	64					0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40946957	40946957	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:40946957G>A	ENST00000295974.8	-	7	1595	c.966C>T	c.(964-966)tcC>tcT	p.S322S	APBB2_ENST00000513140.1_Silent_p.S322S|APBB2_ENST00000506352.1_Silent_p.S322S|APBB2_ENST00000508593.1_Silent_p.S323S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	322	WW.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGCTGGGATGGAGACGGGCC	0.527000													45	5					0	0	1	0	0
OR51F1	256892	broad.mit.edu	37	11	4790355	4790355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4790355G>A	ENST00000380383.1	-	1	813	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.R265C			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	265						integral to membrane	olfactory receptor activity	p.R265C(1)		kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		CGACCATAGCGATACACCAAG	0.512000													12	43					0	0	1	0	0
MSI2	124540	broad.mit.edu	37	17	55752329	55752329	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:55752329G>A	ENST00000416426.2	+	12	910	c.775G>A	c.(775-777)Gca>Aca	p.A259T	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000284073.2_Intron|MSI2_ENST00000442934.2_Intron			Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	263	Poly-Ala.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		CGCTTCCCCGGCAGGCTCCAA	0.657000			T	HOXA9	CML								77	128					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98060710	98060710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:98060710G>A	ENST00000370192.3	-	9	963	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	288					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	ATCTTTATTGGGTTCTGGCAA	0.368000													15	17					0	0	1	0	0
MADD	8567	broad.mit.edu	37	11	47304376	47304376	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:47304376C>T	ENST00000342922.4	+	10	2075	c.1718C>T	c.(1717-1719)cCa>cTa	p.P573L	MADD_ENST00000395336.3_Missense_Mutation_p.P573L|MADD_ENST00000311027.5_Missense_Mutation_p.P573L|MADD_ENST00000402799.1_Missense_Mutation_p.P573L|MADD_ENST00000406482.1_Missense_Mutation_p.P573L|MADD_ENST00000349238.3_Missense_Mutation_p.P573L|MADD_ENST00000402192.2_Missense_Mutation_p.P573L|MADD_ENST00000407859.3_Missense_Mutation_p.P573L|MADD_ENST00000395344.3_Missense_Mutation_p.P573L	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	573					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		ATGTTTGATCCAGCCCTGATT	0.483000													19	61					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56141063	56141063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:56141063G>A	ENST00000508342.1	-	11	2925	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	NEDD4_ENST00000435532.3_Missense_Mutation_p.P457S|NEDD4_ENST00000338963.2_Missense_Mutation_p.P804S|NEDD4_ENST00000506154.1_Missense_Mutation_p.P860S			P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	876	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AGATGGGCTGGAATTTTCAAT	0.343000													43	60					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003509	52003509	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52003509G>A	ENST00000291707.3	-	2	528	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.S40L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	158	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CACAGTCACCGACTCTGGCAC	0.572000													20	67					0	0	1	0	0
UTP20	27340	broad.mit.edu	37	12	101763609	101763609	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:101763609C>T	ENST00000261637.4	+	49	6669	c.6495C>T	c.(6493-6495)gaC>gaT	p.D2165D		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2165					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCTGAAGGACTATGCAAAGC	0.512000													99	16					0	0	1	0	0
TMX2	51075	broad.mit.edu	37	11	57480207	57480207	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:57480207G>A	ENST00000278422.4	+	1	129	c.117G>A	c.(115-117)gtG>gtA	p.V39V	TMX2-CTNND1_ENST00000528395.1_Silent_p.V39V|TMX2_ENST00000378312.4_Silent_p.V39V	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	39					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCCTACTCGTGAGGAAACTGC	0.602000													18	65					0	0	1	0	0
OR4D9	390199	broad.mit.edu	37	11	59282883	59282883	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:59282883C>T	ENST00000329328.3	+	1	498	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TGCTCCCACTCCCTTTCTGTG	0.547000													45	49					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84560888	84560888	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:84560888A>C	ENST00000262753.4	-	13	1491	c.1346T>G	c.(1345-1347)tTg>tGg	p.L449W	POF1B_ENST00000373145.3_Missense_Mutation_p.L449W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	449							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTAGCCTGCAACATTGGGCC	0.388000													13	25					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508136	37508136	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37508136G>T	ENST00000374660.1	+	40	3784	c.3685G>T	c.(3685-3687)Ggg>Tgg	p.G1229W	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G1110W|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G1110W			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCAATATAGTGGGCAGCTTAA	0.348000													44	141					1.02687e-29	1.04115e-29	1	1	0
OTUD7B	56957	broad.mit.edu	37	1	149943100	149943100	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:149943100G>A	ENST00000369135.3	-	3	459	c.165C>T	c.(163-165)tcC>tcT	p.S55S	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	55					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTCACTAAAGGATGGGGGTA	0.537000													50	80					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404375	20404375	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20404375G>A	ENST00000285600.4	+	1	609	c.550G>A	c.(550-552)Gtg>Atg	p.V184M		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		CCTTCCCTTGGTGATAGAGCT	0.453000													63	120					0	0	1	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62687973	62687973	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:62687973G>A	ENST00000281156.4	-	4	759	c.481C>T	c.(481-483)Cct>Tct	p.P161S		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		ACACTTACAGGAACCAGGAAT	0.338000													14	26					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144621080	144621080	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144621080G>A	ENST00000262577.5	-	2	488	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	153					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCACTCCAGGGGGTTTCCTCA	0.612000													15	35					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841990	8841990	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8841990C>T	ENST00000324060.2	+	1	675	c.600C>T	c.(598-600)tcC>tcT	p.S200S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGGCGCTGTCCACCTCAGGGG	0.577000											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	16	63					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168486	142168486	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142168486G>A	ENST00000454561.2	-	0	437																											ATCTAGGAGGGAAGTTTCCTC	0.527000													58	46					0	0	1	0	0
AP3D1	8943	broad.mit.edu	37	19	2127179	2127179	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2127179G>A	ENST00000355272.6	-	9	1034	c.828C>T	c.(826-828)ctC>ctT	p.L276L	AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000345016.5_Silent_p.L276L|AP3D1_ENST00000356926.4_Silent_p.L185L|AP3D1_ENST00000590683.1_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	276					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity	p.L276L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACATTCATAGAGGAGAGACA	0.602000													13	31					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109865368	109865368	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109865368G>A	ENST00000310903.5	+	19	1984	c.1878G>A	c.(1876-1878)agG>agA	p.R626R	MYO1H_ENST00000431443.2_Silent_p.R636R			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CATACCGAAGGAAATACGAGC	0.443000													127	186					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157930989	157930989	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:157930989G>A	ENST00000389413.3	-	7	1232	c.1129C>T	c.(1129-1131)Cca>Tca	p.P377S	PTPRN2_ENST00000404321.2_Missense_Mutation_p.P400S|PTPRN2_ENST00000389416.4_Missense_Mutation_p.P360S|PTPRN2_ENST00000389418.4_Missense_Mutation_p.P377S|PTPRN2_ENST00000409483.1_Missense_Mutation_p.P339S	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	377						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGTCACCTGGAAAGCTGTCT	0.667000													13	14					0	0	1	0	0
CUX2	23316	broad.mit.edu	37	12	111785666	111785666	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:111785666C>T	ENST00000261726.6	+	22	4152	c.3998C>T	c.(3997-3999)cCc>cTc	p.P1333L		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1333	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGCATCCCGACCCTCCG	0.622000													43	76					0	0	1	0	0
TEX14	56155	broad.mit.edu	37	17	56676785	56676785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56676785C>T	ENST00000389934.3	-	14	2038	c.1921G>A	c.(1921-1923)Gga>Aga	p.G641R	TEX14_ENST00000349033.5_Missense_Mutation_p.G641R|TEX14_ENST00000240361.8_Missense_Mutation_p.G647R	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	647						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAAGCAGCTCCTGGAGGCTCT	0.498000													68	55					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222347194	222347194	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:222347194G>A	ENST00000281821.2	-	5	1237	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	EPHA4_ENST00000409854.1_Missense_Mutation_p.S399F|EPHA4_ENST00000392071.4_Missense_Mutation_p.S348F|EPHA4_ENST00000409938.1_Missense_Mutation_p.S399F	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	399	Fibronectin type-III 1.		S -> F (in a metastatic melanoma sample; somatic mutation).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.S399F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCAGTGATGGAGACTTTGGT	0.502000													54	106					0	0	1	0	0
THOP1	7064	broad.mit.edu	37	19	2811693	2811693	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2811693C>T	ENST00000307741.6	+	12	2072	c.1869C>T	c.(1867-1869)ttC>ttT	p.F623F	THOP1_ENST00000395212.4_Silent_p.F134F|THOP1_ENST00000586677.1_Silent_p.F502F	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	623					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACATGTTCCACACGCGCT	0.617000													30	48					0	0	1	0	0
KIR2DL4	3805	broad.mit.edu	37	19	55316320	55316320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55316320G>A	ENST00000396284.2	+	3	143	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.R50Q|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.R50Q|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.R50Q					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4									p.R50Q(2)		NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GTGACTCTTCGGTGTCACTAT	0.547000													27	43					0	0	1	0	0
LINC00303	284573	broad.mit.edu	37	1	204006327	204006327	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:204006327G>A	ENST00000367207.3	-	0	693																											CTGAGGAAGGGATGGGATTTA	0.527000													8	4					0	0	1	0	0
ZNF705A	440077	broad.mit.edu	37	12	8329602	8329602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:8329602C>T	ENST00000359286.4	+	5	415	c.326C>T	c.(325-327)tCt>tTt	p.S109F		NM_001004328.2|NM_001278713.1	NP_001004328.1|NP_001265642.1	Q6ZN79	Z705A_HUMAN	zinc finger protein 705A	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4)	18				Kidney(36;0.0877)		AAGGAGAACTCTCTCATTCTG	0.373000													38	43					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85961590	85961590	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:85961590C>T	ENST00000383699.3	+	6	1224	c.597C>T	c.(595-597)ttC>ttT	p.F199F	CADM2_ENST00000407528.2_Silent_p.F190F|CADM2_ENST00000405615.2_Silent_p.F192F	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	190	Ig-like C2-type 1.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CACTGGACTTCCGAGTGGACC	0.433000													18	11					0	0	1	0	0
EPB41L4A	64097	broad.mit.edu	37	5	111576448	111576448	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:111576448C>T	ENST00000261486.5	-	10	1131	c.855G>A	c.(853-855)tgG>tgA	p.W285*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423.3	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	285	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CACTGCACTTCCAGAGGTGCT	0.323000													18	28					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193061825	193061825	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193061825G>A	ENST00000342358.4	-	9	951	c.834C>T	c.(832-834)tcC>tcT	p.S278S		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	278					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CCAAGAGACGGGATTCCAGCT	0.418000													12	15					0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38309472	38309472	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:38309472C>T	ENST00000399120.1	-	5	1503	c.273G>A	c.(271-273)agG>agA	p.R91R	HLCS_ENST00000336648.3_Silent_p.R91R	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	91					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GGCCCCCTCCCCTGTCACTGT	0.547000													16	51					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632156	156632156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:156632156C>T	ENST00000296518.7	+	6	1048	c.839C>T	c.(838-840)tCg>tTg	p.S280L	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.S22L|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S280L|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S280L|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S280L|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S280L|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S280L			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	280					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity	p.S280W(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATTCCCACATCGCTATTCTGC	0.463000													16	84					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047030	9047030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9047030G>A	ENST00000397910.4	-	5	34804	c.34601C>T	c.(34600-34602)tCa>tTa	p.S11534L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11536	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGTCGTTGAAACAGCTGA	0.507000													25	48					0	0	1	0	0
SPINT2	10653	broad.mit.edu	37	19	38779813	38779813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38779813G>A	ENST00000301244.7	+	4	808	c.373G>A	c.(373-375)Gat>Aat	p.D125N	CTB-102L5.4_ENST00000591889.1_Silent_p.A2A|SPINT2_ENST00000587090.1_Missense_Mutation_p.D75N|SPINT2_ENST00000454580.3_Missense_Mutation_p.D68N	NM_021102.3	NP_066925.1	O43291	SPIT2_HUMAN	serine peptidase inhibitor, Kunitz type, 2	125					cellular component movement	cytoplasm|extracellular region|integral to membrane|soluble fraction	serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(1)|ovary(1)	4	all_cancers(60;6.83e-07)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCACTCCAGCGATATGTTCAA	0.557000													18	70					0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	430393	430393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:430393C>T	ENST00000332826.6	-	8	634	c.550G>A	c.(550-552)Ggg>Agg	p.G184R		NM_001012302.2	NP_001012302.2	A1A5B4	ANO9_HUMAN	anoctamin 9	184						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ACCTTTTCCCCAAAGTAGTTC	0.647000													16	17					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38640746	38640746	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38640746C>T	ENST00000254051.6	-	6	1649	c.1491G>A	c.(1489-1491)caG>caA	p.Q497Q		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	497	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CTGGTCGACTCTGAGCAGACG	0.602000													44	25					0	0	1	0	0
C2orf71	388939	broad.mit.edu	37	2	29295029	29295029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:29295029C>T	ENST00000331664.5	-	1	2098	c.2099G>A	c.(2098-2100)gGg>gAg	p.G700E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	700					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGAAGCTTCCCAGCTTTGCC	0.517000													14	134					0	0	1	0	0
POLR1E	64425	broad.mit.edu	37	9	37493678	37493678	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:37493678C>T	ENST00000377792.3	+	5	999	c.711C>T	c.(709-711)atC>atT	p.I237I	POLR1E_ENST00000442009.2_Silent_p.I105I|POLR1E_ENST00000377798.4_Silent_p.I175I			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	237					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		CAGAGACTATCATTGATACGA	0.458000													9	24					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130184762	130184762	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130184762C>T	ENST00000422113.2	-	2	887	c.561G>A	c.(559-561)ggG>ggA	p.G187G		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	187						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCCCCAGGTCCCCCTGCAGCC	0.706000													16	24					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53994440	53994440	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53994440G>A	ENST00000396403.4	+	4	1082	c.954G>A	c.(952-954)agG>agA	p.R318R	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AAAGACATAGGAGAATTCATG	0.398000													23	70					0	0	1	0	0
UBE2J2	118424	broad.mit.edu	37	1	1203309	1203309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:1203309G>A	ENST00000349431.6	-	2	283	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F	UBE2J2_ENST00000347370.2_5'UTR|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000400930.4_Missense_Mutation_p.L22F|UBE2J2_ENST00000360466.2_Missense_Mutation_p.L22F|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000348298.7_5'UTR	NM_058167.2	NP_477515.2	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	22					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		TTAATGCGAAGGTAGTCCTGC	0.567000													226	25					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55012585	55012585	+	Silent	SNP	C	C	T	rs143359198	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55012585C>T	ENST00000371336.3	+	2	603	c.402C>T	c.(400-402)ccC>ccT	p.P134P	CASS4_ENST00000360314.3_Silent_p.P134P|CASS4_ENST00000434344.1_Silent_p.P134P	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	134					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ATGAATTCCCCGACCCTCCCA	0.572000													30	209					0	0	1	0	0
NEFL	4747	broad.mit.edu	37	8	24811137	24811137	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24811137G>A	ENST00000221169.5	-	0	1936							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGCTCCTCTTGGACATGGCTG	0.587000													53	44					0	0	1	0	0
OR2J2	26707	broad.mit.edu	37	6	29141978	29141978	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29141978C>T	ENST00000377167.2	+	1	668	c.566C>T	c.(565-567)tCa>tTa	p.S189L		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						CTGCGTTTATCATGTGTTGAC	0.453000													37	187					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474049	179474049	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179474049C>T	ENST00000589042.1	-	273	52212	c.51988G>A	c.(51988-51990)Gga>Aga	p.G17330R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G14762R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G8265R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8390R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8457R|TTN_ENST00000591111.1_Missense_Mutation_p.G15689R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15689	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGATTCTCCCTTTTTGCTG	0.463000													24	16					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862907	10862907	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10862907G>A	ENST00000559480.1	+	0	203																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						GAGTGGATGGGATTGGTGTGC	0.547000													43	216					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179532236	179532236	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179532236C>T	ENST00000589042.1	-	161	35870	c.35646G>A	c.(35644-35646)aaG>aaA	p.K11882K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10021	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K184K(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)			GAACAACTTTCTTGGGTGGCT	0.308000													5	12					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228456379	228456379	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228456379G>A	ENST00000570156.2	+	19	5636	c.5562G>A	c.(5560-5562)tcG>tcA	p.S1854S	OBSCN_ENST00000359599.6_Silent_p.S326S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S1670S|OBSCN_ENST00000422127.1_Silent_p.S1670S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	842	Ig-like 18.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTCCAGCTCGAAAGTGCGCG	0.687000													44	40					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921291	247921291	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247921291G>A	ENST00000408896.2	-	1	691	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	140					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TGGACACAAAGGCACAGGTTC	0.493000													15	70					0	0	1	0	0
USP26	83844	broad.mit.edu	37	X	132161550	132161550	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:132161550C>T	ENST00000511190.1	-	6	1168	c.699G>A	c.(697-699)ttG>ttA	p.L233L	USP26_ENST00000406273.1_Silent_p.L233L|USP26_ENST00000370832.1_Silent_p.L233L	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	233					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATTCACATTCCAATTTCTTAT	0.373000													14	14					0	0	1	0	0
LRIT2	340745	broad.mit.edu	37	10	85984098	85984098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:85984098C>T	ENST00000372113.4	-	2	888	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	LRIT2_ENST00000538192.1_Missense_Mutation_p.E295K	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	295	Ig-like.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						CCATCAAATTCTCTCCACATA	0.517000													9	19					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66460725	66460725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66460725C>T	ENST00000533211.1	-	24	5117	c.4786G>A	c.(4786-4788)Gat>Aat	p.D1596N	SPTBN2_ENST00000309996.2_Missense_Mutation_p.D1596N|SPTBN2_ENST00000529997.1_Missense_Mutation_p.D1596N			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1596					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCGGCGGCATCGCGGTAGAAC	0.627000													16	54					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579756	7579756	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:7579756C>T	ENST00000379802.3	+	23	3674	c.3333C>T	c.(3331-3333)atC>atT	p.I1111I	DSP_ENST00000418664.2_Silent_p.I1111I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1111	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATGAGAAGATCACCCGACTGA	0.438000													7	54					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53844083	53844083	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:53844083C>T	ENST00000288139.3	+	48	6128	c.6010C>T	c.(6010-6012)Cct>Tct	p.P2004S	CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1960S|CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1984S|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1984					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGGGCCACCCCTCCAGCAAC	0.617000													15	52					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38690623	38690623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:38690623G>A	ENST00000449981.2	+	2	147	c.38G>A	c.(37-39)gGa>gAa	p.G13E						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCTTCTGAGGGAGCAGAGGCT	0.567000													5	20					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42034999	42034999	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42034999C>T	ENST00000219905.7	+	15	5022	c.4841C>T	c.(4840-4842)cCt>cTt	p.P1614L	MGA_ENST00000570161.1_Missense_Mutation_p.P1614L|MGA_ENST00000389936.4_Missense_Mutation_p.P1614L|MGA_ENST00000566586.1_Intron|MGA_ENST00000545763.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1614	Thr-rich.					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCTGTGACACCTATGACTGCT	0.463000													14	77					0	0	1	0	0
DEFA4	1669	broad.mit.edu	37	8	6794401	6794401	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:6794401G>A	ENST00000297435.2	-	2	145	c.21C>T	c.(19-21)ctC>ctT	p.L7L		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	7					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		GAATAGCAGCGAGGAGGGCGA	0.617000													13	14					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8782719	8782719	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:8782719C>T	ENST00000378641.3	+	32	3915	c.3440C>T	c.(3439-3441)tCa>tTa	p.S1147L	PLCB1_ENST00000378637.2_Missense_Mutation_p.S1147L|PLCB1_ENST00000338037.6_Intron	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|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 acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|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						GGTTCCTCCTCATTCTTGTCG	0.483000													17	33					0	0	1	0	0
PSD2	84249	broad.mit.edu	37	5	139189358	139189358	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:139189358C>T	ENST00000274710.3	+	2	538	c.333C>T	c.(331-333)tcC>tcT	p.S111S		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	111					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAATGCTTCCAGGAGCCTCT	0.597000													88	34					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1270215	1270215	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1270215G>A	ENST00000348261.5	+	35	6531	c.6283G>A	c.(6283-6285)Gac>Aac	p.D2095N	CACNA1H_ENST00000565831.1_Missense_Mutation_p.D2089N|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D2089N	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2095					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGAGGCCTCGGACCCAGCCGA	0.746000													12	12					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978303	10978303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10978303G>A	ENST00000240619.2	-	1	654	c.566C>T	c.(565-567)tCc>tTc	p.S189F		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	189					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TGTAATTAGGGATAGTGTAAA	0.358000													8	47					0	0	1	0	0
ZNF783	100289678	broad.mit.edu	37	7	148963745	148963745	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:148963745A>T	ENST00000434415.1	+	2	507	c.344A>T	c.(343-345)aAt>aTt	p.N115I		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	115					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			CGGCTGGAGAATGTGGAGAAC	0.652000													64	56					0	0	1	0	0
LCA5L	150082	broad.mit.edu	37	21	40795021	40795021	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:40795021C>T	ENST00000358268.2	-	5	1246	c.718G>A	c.(718-720)Gat>Aat	p.D240N	LCA5L_ENST00000288350.3_Missense_Mutation_p.D240N|LCA5L_ENST00000380671.2_Missense_Mutation_p.D240N|LCA5L_ENST00000485895.2_Missense_Mutation_p.D240N			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	240										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TGCAAGATATCTTTAGTCTTC	0.363000													38	46					0	0	1	0	0
ZNF33B	7582	broad.mit.edu	37	10	43127859	43127859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:43127859G>A	ENST00000359467.3	-	3	152	c.38C>T	c.(37-39)tCa>tTa	p.S13L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	13	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						ATCTTTAAATGATACTGACCC	0.453000													8	36					0	0	1	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473650	53473650	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53473650G>A	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							CTTCCTGGAGGAAATTATTCC	0.348000													11	29					0	0	1	0	0
PRIM1	5557	broad.mit.edu	37	12	57146080	57146080	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57146080C>T	ENST00000338193.6	-	1	39	c.3G>A	c.(1-3)atG>atA	p.M1I	HSD17B6_ENST00000555159.1_5'UTR|HSD17B6_ENST00000555805.1_5'UTR	NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	1					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						CAAACGTCTCCATTGAGCGCG	0.602000													4	10					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42379548	42379548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42379548G>A	ENST00000290472.3	-	3	299	c.205C>T	c.(205-207)Cat>Tat	p.H69Y		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	69	C2.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CACACAGGATGACTGGTGTCG	0.567000													84	106					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44099245	44099245	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:44099245G>A	ENST00000272286.2	+	7	1185	c.1095G>A	c.(1093-1095)acG>acA	p.T365T		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	365					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGCAGAGACGAAGGATCTTG	0.552000													121	606					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321612	56321612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56321612G>A	ENST00000443188.1	-	5	1074	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	NLRP11_ENST00000589824.2_Missense_Mutation_p.R122C|NLRP11_ENST00000589093.1_Missense_Mutation_p.R122C|NLRP11_ENST00000360133.3_Missense_Mutation_p.R122C|NLRP11_ENST00000592953.1_Missense_Mutation_p.R23C	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	122							ATP binding	p.R122C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GAAACGTCACGAAAAAATTTA	0.383000													7	25					0	0	1	0	0
KCNQ1	3784	broad.mit.edu	37	11	2482942	2482942	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:2482942G>A	ENST00000335475.5	+	1	277	c.3G>A	c.(1-3)atG>atA	p.M1I	KCNQ1_ENST00000155840.5_Intron			P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	0					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GGCCTGGCATGGAGTAGGTAC	0.612000													43	52					0	0	1	0	0
COL26A1	136227	broad.mit.edu	37	7	101183236	101183236	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:101183236G>A	ENST00000313669.7	+	0	702				COL26A1_ENST00000397927.3_RNA|COL26A1_ENST00000528707.1_RNA	NM_133457.2	NP_597714.2			collagen, type XXVI, alpha 1																		CAGCCCCCGAGAGCACTCCGC	0.652000													10	35					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140574308	140574308	+	Missense_Mutation	SNP	C	C	T	rs149961535		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140574308C>T	ENST00000239446.4	+	1	2367	c.2183C>T	c.(2182-2184)tCg>tTg	p.S728L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		728					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTCGCTGCTCGGTGCCCGAG	0.672000													100	42					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80626770	80626770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:80626770G>A	ENST00000458043.2	+	8	689	c.683G>A	c.(682-684)gGg>gAg	p.G228E	OTOGL_ENST00000547103.1_Missense_Mutation_p.G228E	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GCTTGGGACGGGATATCTGGG	0.398000													16	35					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114839701	114839701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:114839701G>A	ENST00000310346.4	-	3	838	c.172C>T	c.(172-174)Ctc>Ttc	p.L58F	TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Missense_Mutation_p.L58F|TBX5_ENST00000405440.2_Missense_Mutation_p.L58F|TBX5_ENST00000349716.5_Missense_Mutation_p.L8F	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	58					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		CTTTCATGGAGAAACACTTTG	0.478000													11	43					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147703923	147703923	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:147703923C>T	ENST00000367481.3	+	25	3203	c.3095C>T	c.(3094-3096)tCg>tTg	p.S1032L	STXBP5_ENST00000321680.6_Missense_Mutation_p.S1068L|STXBP5_ENST00000179882.6_Missense_Mutation_p.S723L|STXBP5_ENST00000367480.3_Missense_Mutation_p.S1015L	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1068					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GTTGGAGAATCGTCCTCAGGA	0.383000													39	59					0	0	1	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145722799	145722799	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:145722799C>T	ENST00000292539.4	+	2	1139	c.222C>T	c.(220-222)gtC>gtT	p.V74V	CTD-2517M22.14_ENST00000532766.1_RNA|CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Silent_p.V74V			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	74						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCAGTGTTGTCCTTCTGGAGG	0.652000													9	24					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003212	52003212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52003212C>T	ENST00000291707.3	-	2	825	c.770G>A	c.(769-771)tGg>tAg	p.W257*	SIGLEC12_ENST00000598614.1_Nonsense_Mutation_p.W139*	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	257	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TATGTAGTTCCATTTCCTGCT	0.557000													12	58					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81060673	81060673	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81060673C>T	ENST00000334512.5	+	17	2565	c.1993C>T	c.(1993-1995)Cag>Tag	p.Q665*		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	665					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAACACCATCCAGATCACCGT	0.652000													15	15					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24535346	24535346	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:24535346C>T	ENST00000264463.4	-	5	1196	c.689G>A	c.(688-690)aGa>aAa	p.R230K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	230	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTATTGCTCTCTGTTTTCTCT	0.423000										HNSCC(23;0.051)			12	42					0	0	1	0	0
BRIP1	83990	broad.mit.edu	37	17	59857626	59857626	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:59857626G>A	ENST00000259008.2	-	13	2198	c.1931C>T	c.(1930-1932)tCa>tTa	p.S644L	BRIP1_ENST00000577598.1_Missense_Mutation_p.S644L|BRIP1_ENST00000583837.1_5'UTR	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	644					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTAACCTGTGAATTTTTAAT	0.343000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					42	51					0	0	1	0	0
ZNF607	84775	broad.mit.edu	37	19	38189210	38189210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38189210C>T	ENST00000355202.4	-	5	2417	c.1822G>A	c.(1822-1824)Gag>Aag	p.E608K	ZNF607_ENST00000395835.3_Missense_Mutation_p.E607K|CTD-2528L19.4_ENST00000586606.2_Intron	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			TGAATTCTCTCATGAATAATA	0.378000													24	23					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67748510	67748510	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:67748510C>T	ENST00000433211.1	-	16	2379	c.2205G>A	c.(2203-2205)gcG>gcA	p.A735A	CTNNA3_ENST00000373735.1_Silent_p.A74A|CTNNA3_ENST00000373744.4_Silent_p.A735A	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	735					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	p.A735A(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATATCATTTTCGCTGCATAGA	0.378000													30	64					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882684	228882684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228882684C>T	ENST00000392056.3	-	7	2932	c.2886G>A	c.(2884-2886)tgG>tgA	p.W962*	SPHKAP_ENST00000344657.5_Nonsense_Mutation_p.W962*	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	962						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCCCTCTTTTCCATGCACAAA	0.512000													23	32					0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283061	5283061	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:5283061C>T	ENST00000546004.1	-	3	1026	c.780G>A	c.(778-780)acG>acA	p.T260T	PROKR2_ENST00000217270.3_Silent_p.T260T			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAATCTGCTCCGTCTGGAACC	0.607000										HNSCC(71;0.22)			21	20					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650239	133650239	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133650239G>A	ENST00000519595.1	-	4	469	c.371C>T	c.(370-372)cCa>cTa	p.P124L	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.P124L|LRRC6_ENST00000518642.1_Missense_Mutation_p.P124L			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	124	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGAAGCACATGGGTTCCCCAT	0.423000													32	11					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284141	223284141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:223284141G>A	ENST00000540964.1	-	4	2694	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	TLR5_ENST00000342210.6_Nonsense_Mutation_p.Q745*			O60602	TLR5_HUMAN	toll-like receptor 5	745	TIR.		Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		ATGGCATCCTGGATATTGGCA	0.473000													14	57					0	0	1	0	0
SIGLEC7	27036	broad.mit.edu	37	19	51650055	51650055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51650055G>A	ENST00000317643.6	+	5	1141	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	SIGLEC7_ENST00000305628.7_Missense_Mutation_p.G265R|SIGLEC7_ENST00000600577.1_Intron	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7	358					cell adhesion	integral to plasma membrane	receptor activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGCGGTCGGGGGAGCTGGAGC	0.567000													43	58					0	0	1	0	0
LY6G5C	80741	broad.mit.edu	37	6	31647024	31647024	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31647024C>T	ENST00000375858.3	-	2	142	c.134G>A	c.(133-135)tGg>tAg	p.W45*	LY6G5C_ENST00000474395.1_5'UTR|LY6G5C_ENST00000375860.2_Nonsense_Mutation_p.W46*|LY6G5C_ENST00000383237.4_Nonsense_Mutation_p.W48*	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	48						extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						AGGGGGTTCCCAATTGACAGG	0.537000													97	466					0	0	1	0	0
DNMBP	23268	broad.mit.edu	37	10	101639683	101639683	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:101639683G>A	ENST00000342239.3	-	16	4596	c.4505C>T	c.(4504-4506)tCc>tTc	p.S1502F	DNMBP_ENST00000540316.1_Missense_Mutation_p.S414F|DNMBP_ENST00000324109.4_Missense_Mutation_p.S1478F|DNMBP_ENST00000543621.1_Missense_Mutation_p.S724F			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1478					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TCCTGGTACGGAGTAGCCAAC	0.537000													59	28					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100349491	100349491	+	RNA	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100349491A>C	ENST00000542585.1	+	0	1911				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			ACAGTCCCCAAAGAAAAGCCC	0.468000													21	29					0	0	1	0	0
AIP	9049	broad.mit.edu	37	11	67257814	67257814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67257814C>T	ENST00000279146.3	+	5	791	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	AIP_ENST00000525341.1_3'UTR	NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	225					protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						TGAATGGATCCAGCTGGACCA	0.632000									Familial Isolated Pituitary Adenoma				8	24					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3030152	3030152	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:3030152G>A	ENST00000397461.1	+	13	1866	c.1482G>A	c.(1480-1482)gtG>gtA	p.V494V	CNTN4_ENST00000418658.1_Silent_p.V494V|CNTN4_ENST00000397459.2_Silent_p.V166V|CNTN4_ENST00000358480.3_Silent_p.V275V|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_Silent_p.V166V|CNTN4_ENST00000427331.1_Silent_p.V494V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	494					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ACTTGGTAGTGAAAGGTAATG	0.373000													14	38					0	0	1	0	0
REEP1	65055	broad.mit.edu	37	2	86479188	86479188	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:86479188G>A	ENST00000165698.5	-	5	452	c.309C>T	c.(307-309)atC>atT	p.I103I	REEP1_ENST00000540790.1_Silent_p.I82I|REEP1_ENST00000535845.1_Silent_p.I76I|REEP1_ENST00000473407.1_5'UTR|REEP1_ENST00000541910.1_Intron|REEP1_ENST00000538924.1_Silent_p.I110I	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1	103					cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding	p.I103I(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GACAATCATCGATTTCCTGTC	0.522000													42	37					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086984	56086984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56086984C>T	ENST00000257880.7	-	21	3004	c.2785G>A	c.(2785-2787)Ggc>Agc	p.G929S	ITGA7_ENST00000257879.6_Missense_Mutation_p.G885S|ITGA7_ENST00000553804.1_Missense_Mutation_p.G889S|ITGA7_ENST00000347027.6_Missense_Mutation_p.G879S|ITGA7_ENST00000452168.2_Missense_Mutation_p.G792S|ITGA7_ENST00000394230.2_Missense_Mutation_p.G889S|ITGA7_ENST00000394229.2_Missense_Mutation_p.G885S|ITGA7_ENST00000555728.1_Missense_Mutation_p.G929S			Q13683	ITA7_HUMAN	integrin, alpha 7	929					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTGCCCGCCCTCCAGCTCA	0.602000													19	64					0	0	1	0	0
OR5K4	403278	broad.mit.edu	37	3	98072718	98072718	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:98072718C>T	ENST00000354924.2	+	1	21	c.21C>T	c.(19-21)tcC>tcT	p.S7S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAAATCACTCCTTAGCAGCTG	0.408000													19	31					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149681730	149681730	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149681730G>A	ENST00000328668.7	-	1	786	c.207C>T	c.(205-207)atC>atT	p.I69I		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	69						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAGGGGTCTCGATATCTGAAC	0.622000													5	28					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54805016	54805016	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54805016G>A	ENST00000306858.7	+	5	1363	c.1247G>A	c.(1246-1248)tGg>tAg	p.W416*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	416										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCTGGTAATTGGAAAAAGCCA	0.483000													38	61					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196673456	196673456	+	Nonsense_Mutation	SNP	T	T	A	rs138256384	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196673456T>A	ENST00000312428.6	-	53	10133	c.10033A>T	c.(10033-10035)Aga>Tga	p.R3345*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3345					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAAACTCTCTACGAATGGTT	0.368000													32	25					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970883	151970883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:151970883G>A	ENST00000355193.2	-	7	1137	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	KMT2C_ENST00000262189.6_Missense_Mutation_p.H307Y					lysine (K)-specific methyltransferase 2C																		CAAGGATAATGATACATCTGG	0.438000													10	130					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22993144	22993144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22993144G>A	ENST00000313077.7	+	26	3156	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K	CYFIP1_ENST00000435939.2_Missense_Mutation_p.E580K|CYFIP1_ENST00000560848.1_Missense_Mutation_p.E1011K	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	1011					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		CCTGCTCATCGAGCAGAGCCT	0.672000													41	36					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62173982	62173982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:62173982G>A	ENST00000261517.5	-	70	9743	c.9670C>T	c.(9670-9672)Cct>Tct	p.P3224S	VPS13C_ENST00000249837.3_Missense_Mutation_p.P3181S|VPS13C_ENST00000395898.3_Missense_Mutation_p.P3181S|VPS13C_ENST00000395896.4_Missense_Mutation_p.P3224S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3224					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGGGCAACAGGATGAAATACA	0.289000													8	31					0	0	1	0	0
SLC2A1	6513	broad.mit.edu	37	1	43393333	43393333	+	Silent	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:43393333T>G	ENST00000426263.3	-	9	1399	c.1221A>C	c.(1219-1221)gcA>gcC	p.A407A	SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	407					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGGAGAAGCCTGCAACGGCAA	0.557000													20	2					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394629	154394629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:154394629C>T	ENST00000435029.4	+	1	1370	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	404					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R404C(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAATTAAGTCGTTGTCTGAG	0.453000													72	50					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79028721	79028721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79028721C>T	ENST00000446378.2	+	2	4164	c.4133C>T	c.(4132-4134)tCt>tTt	p.S1378F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1378						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAGATTCATCTCTTATCACT	0.393000													5	12					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47547151	47547151	+	Missense_Mutation	SNP	G	G	A	rs147188917	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:47547151G>A	ENST00000359314.5	+	9	1390	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	312	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTGGAGGGGCGAACTTAATGG	0.338000													8	55					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094577	76094577	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76094577G>A	ENST00000335749.4	+	18	5137	c.4568G>A	c.(4567-4569)tGg>tAg	p.W1523*	TNRC6C_ENST00000588847.1_Nonsense_Mutation_p.W1523*|TNRC6C_ENST00000544502.1_Nonsense_Mutation_p.W1523*|TNRC6C_ENST00000541771.1_Nonsense_Mutation_p.W1487*|TNRC6C_ENST00000588061.1_Nonsense_Mutation_p.W1487*|TNRC6C_ENST00000301624.4_Nonsense_Mutation_p.W1487*	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1487	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCCTCCACCTGGGGTGCCAGC	0.592000													16	79					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371492	55371492	+	Missense_Mutation	SNP	G	G	A	rs139149255	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55371492G>A	ENST00000302231.4	-	1	382	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GCCACATAGCGATCAACAGCC	0.433000													32	49					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61946784	61946784	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61946784C>T	ENST00000422202.1	+	19	2606	c.2538C>T	c.(2536-2538)tcC>tcT	p.S846S	COL20A1_ENST00000435874.1_Silent_p.S846S|COL20A1_ENST00000326996.6_Silent_p.S839S|COL20A1_ENST00000358894.6_Silent_p.S839S			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	839	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGACGGCTCCCTCCCAGGTG	0.701000													3	8					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19562096	19562096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19562096G>A	ENST00000409832.3	+	4	965	c.913G>A	c.(913-915)Gga>Aga	p.G305R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	305										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GGATAGATATGGAAGGTATAG	0.328000													15	1					0	0	1	0	0
PENK	5179	broad.mit.edu	37	8	57354437	57354437	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:57354437C>T	ENST00000314922.3	-	2	274	c.198G>A	c.(196-198)aaG>aaA	p.K66K	PENK_ENST00000523274.1_5'UTR|PENK_ENST00000451791.2_Silent_p.K66K	NM_006211.3	NP_006202.1	P01210	PENK_HUMAN	proenkephalin	66					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			GCAGGAGCTCCTTGCAGGTTT	0.448000													65	88					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79024871	79024871	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79024871C>T	ENST00000446378.2	+	2	314	c.283C>T	c.(283-285)Cct>Tct	p.P95S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	95						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATCTTCTACTCCTTGGGCTTC	0.448000													72	54					0	0	1	0	0
TMEM135	65084	broad.mit.edu	37	11	87032350	87032350	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:87032350C>T	ENST00000340353.7	+	14	1488	c.1286C>T	c.(1285-1287)cCa>cTa	p.P429L	TMEM135_ENST00000305494.5_Missense_Mutation_p.P451L|TMEM135_ENST00000535167.1_Missense_Mutation_p.P312L|TMEM135_ENST00000532959.1_Missense_Mutation_p.P322L	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	451						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ACTGTAACACCAGAGTTGCCC	0.398000													17	46					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137872754	137872754	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:137872754G>A	ENST00000409968.1	+	5	1438	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	THSD7B_ENST00000413152.2_Silent_p.Q389Q|THSD7B_ENST00000272643.3_Silent_p.Q420Q|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCGAGCAGCAGGATCCCCACT	0.537000													6	19					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46842856	46842856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46842856G>A	ENST00000339613.2	+	15	2074	c.1819G>A	c.(1819-1821)Gca>Aca	p.A607T	HIF3A_ENST00000377670.4_Missense_Mutation_p.A663T|HIF3A_ENST00000244303.6_Missense_Mutation_p.A594T|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000300862.3_Missense_Mutation_p.A661T			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	663					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.A661S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCAGCCAAGGGCAGGCTCAGC	0.622000													20	48					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35776243	35776243	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35776243C>T	ENST00000400441.3	-	10	1143	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	MROH8_ENST00000441008.2_Missense_Mutation_p.E368K|MROH8_ENST00000217333.8_Missense_Mutation_p.E262K					maestro heat-like repeat family member 8																		GCCACCTTTTCCTGTGGGTCC	0.527000													6	24					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120760	94120760	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:94120760C>T	ENST00000369303.4	-	3	475	c.291G>A	c.(289-291)agG>agA	p.R97R	EPHA7_ENST00000369297.1_Silent_p.R97R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	97						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTACAAAAATCCTTTGTGCAT	0.423000													22	31					0	0	1	0	0
AGGF1	55109	broad.mit.edu	37	5	76332480	76332480	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:76332480G>A	ENST00000312916.7	+	4	998	c.616G>A	c.(616-618)Gga>Aga	p.G206R		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	206					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		ATCACAGACTGGATTTAGTTA	0.398000													10	323					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35797852	35797852	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:35797852C>T	ENST00000394395.2	+	5	379	c.206C>T	c.(205-207)cCt>cTt	p.P69L	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.P69L|TADA2A_ENST00000417170.1_Missense_Mutation_p.P69L|TADA2A_ENST00000586023.1_Missense_Mutation_p.P69L	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	69					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TCAGATTTTCCTGTCCTTGAT	0.458000													17	121					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51524264	51524264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:51524264C>T	ENST00000371117.3	-	61	10935	c.10660G>A	c.(10660-10662)Gaa>Aaa	p.E3554K		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3554					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.E3554Q(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAGCGTATTTCAATGGGCTCC	0.408000													10	60					0	0	1	0	0
AHI1	54806	broad.mit.edu	37	6	135787487	135787487	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:135787487G>A	ENST00000367800.4	-	5	430	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	AHI1_ENST00000457866.2_Missense_Mutation_p.P72S|AHI1_ENST00000327035.6_Missense_Mutation_p.P72S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	72						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TTAATATGGGGAAGATTGCTT	0.333000													41	59					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939103	47939103	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47939103G>T	ENST00000402813.3	-	10	1757	c.1615C>A	c.(1615-1617)Cac>Aac	p.H539N	CNGA1_ENST00000514170.1_Missense_Mutation_p.H470N|CNGA1_ENST00000544810.1_Missense_Mutation_p.H470N|CNGA1_ENST00000420489.2_Missense_Mutation_p.H470N|CNGA1_ENST00000358519.4_Missense_Mutation_p.H470N			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	470					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						GTGTCTAAGTGAACGTTGATG	0.398000													33	68					1.22384e-17	1.23673e-17	1	1	0
SI	6476	broad.mit.edu	37	3	164714397	164714397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:164714397G>A	ENST00000264382.3	-	40	4680	c.4618C>T	c.(4618-4620)Cat>Tat	p.H1540Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1540	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTACAGAGATGATATTCTGAG	0.299000										HNSCC(35;0.089)			23	15					0	0	1	0	0
MARCH3	115123	broad.mit.edu	37	5	126206349	126206349	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:126206349C>T	ENST00000308660.5	-	5	1252	c.738G>A	c.(736-738)agG>agA	p.R246R		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	246					endocytosis	cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosome	ligase activity|zinc ion binding			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		CCTTTGAGTTCCTCTTGACCG	0.488000													12	29					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80735793	80735793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:80735793G>A	ENST00000458043.2	+	43	5095	c.5089G>A	c.(5089-5091)Gaa>Aaa	p.E1697K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E1685K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TACAAATATGGAAGACATAGG	0.338000													6	17					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37422872	37422872	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37422872G>A	ENST00000374660.1	+	5	577	c.478G>A	c.(478-480)Gga>Aga	p.G160R	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G160R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G160R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGTATGTCATGGATCATCAGA	0.378000													32	135					0	0	1	0	0
EXOC3	11336	broad.mit.edu	37	5	453731	453731	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:453731G>A	ENST00000512944.1	+	4	800	c.611G>A	c.(610-612)cGt>cAt	p.R204H	EXOC3_ENST00000315013.5_Missense_Mutation_p.R204H	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	215					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			ACTGTCCGCCGTGACCCCACC	0.537000													17	88					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119948548	119948548	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119948548G>A	ENST00000307142.4	+	3	1220	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.E342K|SYNPO2_ENST00000429713.2_Missense_Mutation_p.E342K|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	342						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCACGCTCGGAAAAAGATCA	0.562000													27	21					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67223192	67223192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67223192C>T	ENST00000325656.5	+	1	375	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_5'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	100					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CCACCGACATCGTCCTGACTC	0.677000													7	15					0	0	1	0	0
PCBP3	54039	broad.mit.edu	37	21	47360066	47360066	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:47360066G>A	ENST00000400314.1	+	15	1370	c.1032G>A	c.(1030-1032)acG>acA	p.T344T	PCBP3_ENST00000400304.1_Silent_p.T334T|PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Silent_p.T324T|PCBP3_ENST00000449640.1_Silent_p.T344T|PCBP3_ENST00000400308.1_Silent_p.T318T|PCBP3_ENST00000400309.1_Silent_p.T343T			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	344	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding	p.T344T(1)|p.T312T(1)		biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TCACCATCACGGGGACCCCGG	0.577000													14	45					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55943267	55943267	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55943267G>A	ENST00000373965.2	-	14	1942	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F	PCDH15_ENST00000320301.6_Silent_p.F509F|PCDH15_ENST00000361849.3_Silent_p.F509F|PCDH15_ENST00000373955.1_Silent_p.F509F|PCDH15_ENST00000414778.1_Silent_p.F514F|PCDH15_ENST00000409834.1_Silent_p.F120F|PCDH15_ENST00000395445.1_Silent_p.F516F|PCDH15_ENST00000395446.1_Silent_p.F509F|PCDH15_ENST00000437009.1_Silent_p.F509F|PCDH15_ENST00000373957.3_Silent_p.F487F|PCDH15_ENST00000395430.1_Silent_p.F509F|PCDH15_ENST00000395432.2_Silent_p.F472F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.F509F|PCDH15_ENST00000395433.1_Silent_p.F487F|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	509	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATATTTCAGGGAAGGTTGGCG	0.398000										HNSCC(58;0.16)			27	48					0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43473103	43473103	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:43473103T>C	ENST00000372444.2	+	11	1587	c.1154T>C	c.(1153-1155)cTa>cCa	p.L385P	TJAP1_ENST00000438588.2_Missense_Mutation_p.L395P|TJAP1_ENST00000259751.1_Missense_Mutation_p.L385P|TJAP1_ENST00000372452.1_Missense_Mutation_p.L385P|TJAP1_ENST00000372445.5_Missense_Mutation_p.L395P|TJAP1_ENST00000436109.2_Missense_Mutation_p.L385P|TJAP1_ENST00000372449.1_Missense_Mutation_p.L395P|TJAP1_ENST00000483640.1_3'UTR	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	395						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			ccagcacccctaacactcagt	0.677000													7	13					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138712877	138712877	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138712877G>A	ENST00000389532.4	-	11	3694	c.3630C>T	c.(3628-3630)tcC>tcT	p.S1210S	CAMSAP1_ENST00000312405.6_Silent_p.S932S|CAMSAP1_ENST00000409386.3_Silent_p.S1221S|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1210	Poly-Ser.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTGAGGAGCTGGACCCCACCT	0.567000													50	6					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107506373	107506373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:107506373C>T	ENST00000265840.7	+	6	567	c.302C>T	c.(301-303)tCt>tTt	p.S101F	ELMOD1_ENST00000443271.2_Missense_Mutation_p.S101F|ELMOD1_ENST00000531234.1_Missense_Mutation_p.S95F	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	101					phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		CTGGGAATCTCTCTTCAGGCT	0.438000													22	38					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170916685	170916685	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:170916685C>T	ENST00000367759.4	+	3	197	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	MROH9_ENST00000367758.3_Silent_p.L15L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TCTCCAGATTCTGCAAGACAG	0.373000													52	57					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131277427	131277427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:131277427C>T	ENST00000337057.3	-	2	380	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K	EPB41L2_ENST00000530481.1_Missense_Mutation_p.E67K|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E67K|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E67K|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E67K|EPB41L2_ENST00000525271.1_Missense_Mutation_p.E67K|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E67K|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E67K|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E67K|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E67K|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E67K	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	67					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCGATGTTTCCTTCTCTCTC	0.483000													27	32					0	0	1	0	0
AGAP7	653268	broad.mit.edu	37	10	51465496	51465496	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:51465496C>T	ENST00000374095.5	-	7	1085	c.960G>A	c.(958-960)aaG>aaA	p.K320K		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	320	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GGGATGGCCACTTTCCTGGGA	0.463000													35	154					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126882982	126882982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:126882982G>A	ENST00000339582.2	-	2	1085	c.277C>T	c.(277-279)Ctt>Ttt	p.L93F	GRM8_ENST00000405249.1_Missense_Mutation_p.L93F|GRM8_ENST00000444921.2_Missense_Mutation_p.L93F|GRM8_ENST00000358373.3_Missense_Mutation_p.L93F			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	93					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	ATGTTGGAAAGGAGATCAGGG	0.502000										HNSCC(24;0.065)			9	27					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433391	10433391	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10433391C>T	ENST00000245503.5	-	23	3082	c.2697_splice	c.e23-1	p.E900_splice	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Splice_Site_p.E900_splice|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	900					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						CCTTCGGCTTCCTTAAGTTGG	0.388000													22	76					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45970796	45970796	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45970796G>A	ENST00000391621.1	-	1	592	c.546C>T	c.(544-546)tgC>tgT	p.C182C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	182	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CGGACACACAGCAGGACTGCT	0.612000													24	98					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030272	3030272	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3030272G>A	ENST00000328890.2	-	1	603	c.574C>T	c.(574-576)Ccc>Tcc	p.P192S		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TTGGTGAAGGGGTCTGTGCAG	0.493000													78	65					0	0	1	0	0
IL2RA	3559	broad.mit.edu	37	10	6063460	6063460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:6063460C>T	ENST00000379959.3	-	4	737	c.564G>A	c.(562-564)atG>atA	p.M188I	IL2RA_ENST00000256876.6_Intron|IL2RA_ENST00000379954.1_Intron	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	188					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GACTGGTCTCCATTTCACCTG	0.562000													43	116					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372964	24372964	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:24372964G>A	ENST00000005284.3	+	4	1930	c.728G>A	c.(727-729)aGa>aAa	p.R243K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	243					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACCGAGCCCAGATCCCGAGAC	0.567000													25	19					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299727	31299727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:31299727G>A	ENST00000265071.2	+	5	1065	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	CDH6_ENST00000514738.1_Missense_Mutation_p.R212Q	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AACCCTCCCCGATTCCCCCAG	0.418000													10	54					0	0	1	0	0
RAB3A	5864	broad.mit.edu	37	19	18308374	18308374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18308374G>A	ENST00000222256.4	-	5	747	c.569C>T	c.(568-570)tCg>tTg	p.S190L	RAB3A_ENST00000464076.2_Missense_Mutation_p.S95L	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	190					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CGTGTCCAACGACTCGGACAT	0.607000													20	30					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073416	40073416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:40073416G>A	ENST00000336649.4	+	33	4943	c.4943G>A	c.(4942-4944)gGg>gAg	p.G1648E	CACNA1I_ENST00000401624.1_Missense_Mutation_p.G1642E|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G1642E|CACNA1I_ENST00000400164.3_Missense_Mutation_p.G1607E|CACNA1I_ENST00000407673.1_Missense_Mutation_p.G1607E|CACNA1I_ENST00000404898.1_Missense_Mutation_p.G1607E			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1642					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GAGCTCTTTGGGAAGCTGGGT	0.677000													3	6					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64031561	64031561	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64031561G>T	ENST00000540288.1	+	22	2732	c.2629G>T	c.(2629-2631)Gcc>Tcc	p.A877S	PLCB3_ENST00000279230.6_Missense_Mutation_p.A877S|PLCB3_ENST00000325234.5_Missense_Mutation_p.A810S	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	877					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCGGCAGCTGGCCGCCCTCAT	0.657000													12	47					1.61879e-10	1.63042e-10	1	1	0
COL11A2	1302	broad.mit.edu	37	6	33141829	33141829	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33141829G>A	ENST00000341947.2	-	33	2715	c.2488C>T	c.(2488-2490)Ctg>Ttg	p.L830L	COL11A2_ENST00000361917.1_Silent_p.L723L|COL11A2_ENST00000395197.1_Silent_p.L770L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Silent_p.L809L|COL11A2_ENST00000374713.1_Silent_p.L783L|COL11A2_ENST00000374714.1_Silent_p.L804L|COL11A2_ENST00000374712.1_Silent_p.L749L|COL11A2_ENST00000374708.4_Silent_p.L744L	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	830	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TTCCCCGACAGGCCCTGGTGG	0.627000													17	72					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16812746	16812746	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:16812746C>T	ENST00000448080.2	-	20	2763	c.2749G>A	c.(2749-2751)Gaa>Aaa	p.E917K	PLEKHA7_ENST00000332954.4_5'UTR|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000355661.3_Splice_Site_p.E916_splice|PLEKHA7_ENST00000531066.1_Splice_Site_p.E916_splice	NM_175058.4	NP_778228.3	Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	916	Pro-rich.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCTTCATCTTCCTGCTGAGAA	0.617000													10	21					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826618	46826618	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46826618G>A	ENST00000283296.7	-	17	3310	c.3022C>T	c.(3022-3024)Ctg>Ttg	p.L1008L	GPR116_ENST00000265417.7_Silent_p.L1008L|GPR116_ENST00000456426.2_Silent_p.L866L|GPR116_ENST00000362015.4_Silent_p.L1008L|GPR116_ENST00000545669.1_Silent_p.L437L	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1008					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGTATTCCCAGGAGAGAACTA	0.483000													13	71					0	0	1	0	0
HFM1	164045	broad.mit.edu	37	1	91861880	91861880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:91861880C>T	ENST00000370425.3	-	3	252	c.154G>A	c.(154-156)Gag>Aag	p.E52K	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	52							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCTTCCTCTAACTCCTGA	0.323000													7	6					0	0	1	0	0
KIF3C	3797	broad.mit.edu	37	2	26151895	26151895	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:26151895G>A	ENST00000264712.3	-	8	2913	c.2334C>T	c.(2332-2334)tcC>tcT	p.S778S	KIF3C_ENST00000405914.1_Silent_p.S778S	NM_002254.6	NP_002245.4	O14782	KIF3C_HUMAN	kinesin family member 3C	778	Globular (Potential).				blood coagulation|microtubule-based movement	cytosol|kinesin complex|microtubule	ATP binding|microtubule motor activity			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGAGGCCAGGGAGGCATGTG	0.607000													109	33					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40137125	40137125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:40137125G>A	ENST00000278198.2	-	2	2681	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.Q240*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.Q240*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.Q240*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	240					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATCAAACCCTGGAAAGAGCCA	0.458000													10	71					0	0	1	0	0
LINC00639	283547	broad.mit.edu	37	14	39304827	39304827	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:39304827C>T	ENST00000553932.1	-	0	3735																											CGTGTTCATTCCTTTTCAGAG	0.493000													4	19					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213878550	213878550	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:213878550C>T	ENST00000457361.1	-	7	989	c.821G>A	c.(820-822)gGa>gAa	p.G274E	IKZF2_ENST00000374327.4_Missense_Mutation_p.G129E|IKZF2_ENST00000421754.2_Intron|IKZF2_ENST00000451136.2_Missense_Mutation_p.G202E|IKZF2_ENST00000374319.4_Missense_Mutation_p.G248E|IKZF2_ENST00000413091.3_3'UTR|IKZF2_ENST00000434687.1_Missense_Mutation_p.G274E|IKZF2_ENST00000342002.2_Missense_Mutation_p.G280E	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TTTACGTTTTCCCATATTCCC	0.403000													20	38					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123989891	123989891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123989891G>A	ENST00000369005.1	+	16	8403	c.8063G>A	c.(8062-8064)cGg>cAg	p.R2688Q	TACC2_ENST00000513429.1_Missense_Mutation_p.R834Q|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.R766Q|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.R778Q|TACC2_ENST00000358010.1_Missense_Mutation_p.R834Q|TACC2_ENST00000334433.3_Missense_Mutation_p.R2688Q|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000360561.3_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2688						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.R2688Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCATCATGCGGATAGAAGCC	0.567000													22	100					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50699580	50699580	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:50699580C>T	ENST00000404971.1	-	17	4559	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K	NRXN1_ENST00000401669.2_Missense_Mutation_p.E1034K|NRXN1_ENST00000402717.3_Missense_Mutation_p.E1026K|NRXN1_ENST00000405472.3_Missense_Mutation_p.E1026K|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401710.1_Missense_Mutation_p.E43K|NRXN1_ENST00000406859.3_Missense_Mutation_p.E1034K|NRXN1_ENST00000406316.2_Missense_Mutation_p.E1034K	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1034	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTGTATGTTTCTTTAGCTACT	0.403000													14	56					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123518351	123518351	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:123518351C>T	ENST00000422452.2	-	30	6493	c.6430G>A	c.(6430-6432)Gac>Aac	p.D2144N	TENM1_ENST00000371130.3_Missense_Mutation_p.D2137N|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		ACCCTTATGTCACATATTACC	0.403000													43	40					0	0	1	0	0
GPR141	353345	broad.mit.edu	37	7	37780319	37780319	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:37780319G>A	ENST00000447769.1	+	4	613	c.324G>A	c.(322-324)gtG>gtA	p.V108V	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Silent_p.V108V|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	108						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TCTATGTGGTGATCCTGGTCA	0.483000													121	62					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87038587	87038587	+	Silent	SNP	G	G	A	rs149043617		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87038587G>A	ENST00000265723.4	-	24	3157	c.3046C>T	c.(3046-3048)Ctg>Ttg	p.L1016L	ABCB4_ENST00000358400.3_Silent_p.L969L|ABCB4_ENST00000359206.3_Silent_p.L1016L|ABCB4_ENST00000545634.1_Silent_p.L1016L|ABCB4_ENST00000453593.1_Silent_p.L969L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1016					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.L1016L(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGTCAATCAGAGGTTGTCTT	0.458000													27	88					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77245351	77245351	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:77245351C>T	ENST00000341514.6	+	4	1388	c.1233C>T	c.(1231-1233)tcC>tcT	p.S411S	ATP7A_ENST00000343533.5_Silent_p.S411S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	411	HMA 4.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TACGAGTCTCCCTTGCAAATA	0.413000													73	6					0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034485	58034485	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58034485G>A	ENST00000395079.2	-	1	1247	c.846C>T	c.(844-846)gcC>gcT	p.A282A		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TGTTCCTCAGGGCATAGATAA	0.537000													41	46					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30122033	30122033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:30122033C>T	ENST00000449742.2	-	7	1234	c.1159G>A	c.(1159-1161)Gat>Aat	p.D387N	TRIM10_ENST00000376704.3_Intron	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	387	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CGCTGCACATCCTCGCTCACC	0.672000													8	29					0	0	1	0	0
RAE1	8480	broad.mit.edu	37	20	55948608	55948608	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55948608T>C	ENST00000395841.2	+	9	1140	c.720T>C	c.(718-720)gtT>gtC	p.V240V	RAE1_ENST00000371242.2_Silent_p.V240V|RAE1_ENST00000527947.1_Silent_p.V240V|RAE1_ENST00000395840.2_Silent_p.V240V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	240					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding			breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			AGGGGAGAGTTGCTATTCACT	0.413000													23	117					0	0	1	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22861907	22861907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22861907G>A	ENST00000283645.4	+	14	2057	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.D643N	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	643					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		TGATGTTCATGATCCACTGCT	0.423000													18	73					0	0	1	0	0
ANXA11	311	broad.mit.edu	37	10	81928875	81928875	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81928875T>C	ENST00000438331.1	-	6	893	c.411A>G	c.(409-411)ggA>ggG	p.G137G	ANXA11_ENST00000535999.1_Silent_p.G137G|ANXA11_ENST00000372231.3_Silent_p.G137G|ANXA11_ENST00000265447.4_Silent_p.G137G|ANXA11_ENST00000360615.4_Silent_p.G137G|ANXA11_ENST00000537102.1_Silent_p.G104G|ANXA11_ENST00000422982.3_Silent_p.G137G	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	137					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGGGCTGCTGTCCGGGGGGTG	0.692000													5	17					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508414	37508414	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37508414G>A	ENST00000374660.1	+	40	4062	c.3963G>A	c.(3961-3963)agG>agA	p.R1321R	ANKRD30A_ENST00000602533.1_Silent_p.R1202R|ANKRD30A_ENST00000361713.1_Silent_p.R1202R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAGCTCAAAGGAAATCCAAAA	0.368000													10	27					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164716	139164716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:139164716C>T	ENST00000395297.1	-	13	2172	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	668										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ACTGAGAGTTCCTCCTGCTCT	0.527000										HNSCC(54;0.14)			20	69					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28540518	28540518	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28540518G>A	ENST00000452236.2	-	4	3765	c.3148C>T	c.(3148-3150)Cat>Tat	p.H1050Y		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1050					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agttgcttatgatcagcttcc	0.303000													42	34					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229859	21229859	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21229859G>A	ENST00000233242.1	-	26	10008	c.9881C>T	c.(9880-9882)tCa>tTa	p.S3294L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3294			S -> P (in dbSNP:rs12720855).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAATGTGTATGAAGGCACACG	0.458000													123	645					0	0	1	0	0
OR2T6	254879	broad.mit.edu	37	1	248551191	248551191	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248551191C>T	ENST00000355728.2	+	1	282	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCATCTCTTTCATCGCCTGCA	0.532000													49	44					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212426674	212426674	+	Missense_Mutation	SNP	T	T	G	rs112196222		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:212426674T>G	ENST00000342788.4	-	20	2751	c.2441A>C	c.(2440-2442)aAc>aCc	p.N814T	ERBB4_ENST00000402597.1_Missense_Mutation_p.N804T|ERBB4_ENST00000436443.1_Missense_Mutation_p.N814T	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	814	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGATCCAATGTTATCCTTGTG	0.453000										TSP Lung(8;0.080)			22	74					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124642454	124642454	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124642454G>A	ENST00000311075.3	-	3	592	c.554C>T	c.(553-555)tCg>tTg	p.S185L		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	185	EGF-like 1.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACACATAACGAATTATCTGC	0.383000													18	27					0	0	1	0	0
C2orf66	401027	broad.mit.edu	37	2	197673972	197673972	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:197673972C>T	ENST00000342506.2	-	1	1028	c.140G>A	c.(139-141)tGg>tAg	p.W47*		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	47						extracellular region				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						GAGTGGCTTCCATTTGTCCTC	0.498000													57	144					0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115580660	115580660	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:115580660G>A	ENST00000265440.7	-	8	1169	c.989C>T	c.(988-990)tCc>tTc	p.S330F	TFEC_ENST00000457268.1_Missense_Mutation_p.S263F|TFEC_ENST00000320239.7_Missense_Mutation_p.S301F|TFEC_ENST00000393485.1_3'UTR	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	330	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GCTTTCTTTGGAAACTGCAGG	0.408000													46	33					0	0	1	0	0
TSPY8	728403	broad.mit.edu	37	Y	9195492	9195492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:9195492G>A	ENST00000287721.9	+	1	87	c.41G>A	c.(40-42)aGg>aAg	p.R14K	TSPY8_ENST00000330628.9_Missense_Mutation_p.R14K|TSPY8_ENST00000383005.2_Missense_Mutation_p.R14K|TSPY8_ENST00000383000.1_Missense_Mutation_p.R14K|TSPY8_ENST00000477879.1_3'UTR	NM_001243721.1	NP_001230650.1	A6NGL4	A6NGL4_HUMAN	testis specific protein, Y-linked 8	14					nucleosome assembly	nucleus											GTGCCAGAGAGGCTGCGGCAG	0.706000													6	35					0	0	1	0	0
SLC8A2	6543	broad.mit.edu	37	19	47935701	47935701	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47935701C>T	ENST00000236877.6	-	9	2507	c.2110_splice	c.e9-1	p.G704_splice	SLC8A2_ENST00000542837.1_Splice_Site_p.G460_splice|SLC8A2_ENST00000539381.1_Splice_Site_p.G167_splice|SLC8A2_ENST00000601757.1_5'UTR	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	704					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCTCCTCGTCCCCTGTGGGCA	0.587000													36	55					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927205	166927205	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:166927205G>A	ENST00000271417.3	-	2	235	c.180C>T	c.(178-180)tcC>tcT	p.S60S	ILDR2_ENST00000469934.2_Silent_p.S60S|ILDR2_ENST00000529071.1_Silent_p.S60S|ILDR2_ENST00000528703.1_Silent_p.S60S|ILDR2_ENST00000529387.1_Silent_p.S60S|ILDR2_ENST00000526687.1_Silent_p.S60S|ILDR2_ENST00000525740.1_Silent_p.S60S	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	60	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CCTGGCAGTAGGACTTGAACT	0.542000													117	98					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18230704	18230704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:18230704C>T	ENST00000380033.4	-	4	605	c.473G>A	c.(472-474)gGa>gAa	p.G158E	BEND2_ENST00000380030.3_Missense_Mutation_p.G158E	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	158										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATAGAATCTTCCTCTTTTTGG	0.333000													21	28					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501536	12501536	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:12501536G>A	ENST00000419318.1	-	4	2329	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L	ZNF799_ENST00000430385.3_Missense_Mutation_p.P559L|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACACTCATAGGGTTTCTCTCT	0.418000													20	60					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901605	40901605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40901605G>A	ENST00000324001.7	-	7	2924	c.2654C>T	c.(2653-2655)cCt>cTt	p.P885L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	885					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCACCTCAGGGCCCTCCAC	0.637000													18	52					0	0	1	0	0
TC2N	123036	broad.mit.edu	37	14	92251571	92251571	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:92251571C>T	ENST00000435962.2	-	11	1620	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K	TC2N_ENST00000360594.5_Missense_Mutation_p.E433K|TC2N_ENST00000340892.5_Missense_Mutation_p.E433K|TC2N_ENST00000556018.1_Missense_Mutation_p.E369K	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	433	C2.					nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		AAAACAATTTCTTTTTCACTC	0.363000													43	151					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457590	110457590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:110457590C>T	ENST00000378402.5	+	38	5596	c.5492C>T	c.(5491-5493)cCc>cTc	p.P1831L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1831	IPT/TIG 11.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTCAGCAGCCCCCCAGTAGCA	0.498000										HNSCC(38;0.096)			26	14					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56466654	56466654	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56466654G>A	ENST00000291971.3	+	3	1301	c.1230G>A	c.(1228-1230)atG>atA	p.M410I	NLRP8_ENST00000590542.1_Missense_Mutation_p.M410I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	410	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AACAGCAAATGGAGAGAGGAA	0.483000													46	46					0	0	1	0	0
GLS2	27165	broad.mit.edu	37	12	56868878	56868878	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:56868878C>T	ENST00000311966.4	-	10	1224	c.946G>A	c.(946-948)Gaa>Aaa	p.E316K	GLS2_ENST00000476991.1_5'UTR	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	316					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TCCCCTGTTTCCTTCTCTGAC	0.468000													79	106					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123782685	123782685	+	Silent	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:123782685T>A	ENST00000420886.2	-	30	3878	c.3879A>T	c.(3877-3879)ctA>ctT	p.L1293L	SBNO1_ENST00000267176.4_Silent_p.L1292L|SBNO1_ENST00000602750.1_Silent_p.L1292L|SBNO1_ENST00000602398.1_Silent_p.L1293L	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1293							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTTCACAAACTAGCCCCAAGC	0.403000													19	41					0	0	1	0	0
PLCB1	23236	broad.mit.edu	37	20	8862399	8862399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:8862399C>T	ENST00000338037.6	+	32	3581	c.3554C>T	c.(3553-3555)tCc>tTc	p.S1185F	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1185					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|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 acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCCCTCTCTCCCTGTCCTCA	0.493000													46	142					0	0	1	0	0
NCOA3	8202	broad.mit.edu	37	20	46268361	46268361	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:46268361C>T	ENST00000372004.3	+	15	2964	c.2748C>T	c.(2746-2748)tcC>tcT	p.S916S	NCOA3_ENST00000371998.3_Silent_p.S916S|NCOA3_ENST00000371997.3_Intron|NCOA3_ENST00000341724.6_Intron	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	916					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGACTCCTTCCTCAGGAGACT	0.428000													37	116					0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40661288	40661288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:40661288C>T	ENST00000267889.3	+	8	3062	c.2975C>T	c.(2974-2976)tCc>tTc	p.S992F	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	992					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		AGCCTATTCTCCGTGGCAGCT	0.622000													19	61					0	0	1	0	0
C20orf166-AS1	253868	broad.mit.edu	37	20	61143649	61143649	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61143649C>T	ENST00000475015.1	-	0	689				C20orf166-AS1_ENST00000412495.1_RNA																							GGCTGGAATCCAGAATCAGAT	0.667000													10	85					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93106958	93106958	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:93106958C>T	ENST00000359558.2	-	6	581	c.282G>A	c.(280-282)tgG>tgA	p.W94*	CALCR_ENST00000421592.1_Nonsense_Mutation_p.W76*|CALCR_ENST00000426151.1_Nonsense_Mutation_p.W76*|CALCR_ENST00000394441.1_Nonsense_Mutation_p.W76*|CALCR_ENST00000360249.4_Nonsense_Mutation_p.W76*	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	76					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCCATCCATCCCAGGTGCGAT	0.428000													14	24					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768530	117768530	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117768530C>T	ENST00000317775.6	-	2	1030	c.345G>A	c.(343-345)ggG>ggA	p.G115G	NOS1_ENST00000338101.4_Silent_p.G115G|NOS1_ENST00000344089.3_Silent_p.G115G	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	115	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCTTGGGGGTCCCATCACCTG	0.627000													16	47					0	0	1	0	0
ZNF300	91975	broad.mit.edu	37	5	150275724	150275724	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:150275724C>T	ENST00000446148.2	-	7	1552	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000274599.5_Silent_p.G359G|ZNF300_ENST00000394226.2_Silent_p.G359G|ZNF300_ENST00000418587.2_Silent_p.G323G	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGGCTTTCCCGCATTCAC	0.428000													7	49					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874374	74874374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74874374C>T	ENST00000331628.3	-	4	828	c.581G>A	c.(580-582)gGg>gAg	p.G194E	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G194E	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	194					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						GCGGAAGTCCCCTTTGGAGAT	0.662000													44	58					0	0	1	0	0
FBF1	85302	broad.mit.edu	37	17	73921466	73921466	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:73921466G>A	ENST00000586717.1	-	12	1161	c.888C>T	c.(886-888)gtC>gtT	p.V296V	FBF1_ENST00000319129.5_Silent_p.V296V|FBF1_ENST00000389570.4_Silent_p.V296V			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	296										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						CCTCAGAGGAGACCACAGTGG	0.597000													10	33					0	0	1	0	0
PRKG2	5593	broad.mit.edu	37	4	82125844	82125844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:82125844C>T	ENST00000395578.1	-	2	474	c.358G>A	c.(358-360)Gga>Aga	p.G120R	PRKG2_ENST00000418486.2_Missense_Mutation_p.G120R|PRKG2_ENST00000264399.1_Missense_Mutation_p.G120R			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	120					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GCCTTTGCTCCCCTCCTGCTA	0.537000													174	132					0	0	1	0	0
PIBF1	10464	broad.mit.edu	37	13	73357849	73357849	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:73357849A>T	ENST00000326291.6	+	2	580	c.242A>T	c.(241-243)tAt>tTt	p.Y81F		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	81						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		AAAGTGGATTATCTTACAAAG	0.303000													16	31					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404419	179404419	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179404419C>T	ENST00000589042.1	-	352	98597	c.98373G>A	c.(98371-98373)agG>agA	p.R32791R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.R30223R|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.R23726R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.R23851R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.R23918R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.R31150R|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31150	Ig-like 145.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTATCACCCTGACCTTGA	0.502000													42	20					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215813426	215813426	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:215813426A>G	ENST00000272895.7	-	47	7217	c.6998T>C	c.(6997-6999)gTt>gCt	p.V2333A	ABCA12_ENST00000389661.4_Missense_Mutation_p.V2015A|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2333	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACAGTAGCCAACTAATGAGCT	0.403000													7	23					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983558	128983558	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:128983558G>A	ENST00000274487.4	+	12	2100	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	652	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCAGTGCTGGGATCAGCAGT	0.517000													32	120					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136567205	136567205	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:136567205C>T	ENST00000264162.2	-	8	2722	c.2712G>A	c.(2710-2712)cgG>cgA	p.R904R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	904	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAAGTCATCCCGAAACGTCC	0.522000													25	66					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237919623	237919623	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:237919623G>A	ENST00000366574.2	+	81	11498	c.11181G>A	c.(11179-11181)caG>caA	p.Q3727Q	RYR2_ENST00000542537.1_Silent_p.Q3711Q|RYR2_ENST00000360064.6_Silent_p.Q3733Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3727					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTCTATACCAGCAAGCCCGAC	0.468000													52	27					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088739	86088739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86088739G>A	ENST00000330753.4	+	2	1648	c.881G>A	c.(880-882)gGg>gAg	p.G294E	FLRT2_ENST00000554746.1_Missense_Mutation_p.G294E	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	294					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGACTCAAGGGGTTTTTGAT	0.448000													69	199					0	0	1	0	0
ABCA2	20	broad.mit.edu	37	9	139904235	139904235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139904235C>T	ENST00000265662.5	-	43	6763	c.6616G>A	c.(6616-6618)Gcc>Acc	p.A2206T	ABCA2_ENST00000371605.3_Missense_Mutation_p.A2205T|ABCA2_ENST00000341511.6_Missense_Mutation_p.A2206T			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2205	ABC transporter 2.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		AAGATGAAGGCTGGGTACCCA	0.642000													11	10					0	0	1	0	0
TMEM222	84065	broad.mit.edu	37	1	27660755	27660755	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:27660755C>T	ENST00000374076.4	+	5	560	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_032125.2	NP_115501.2	Q9H0R3	TM222_HUMAN	transmembrane protein 222	174						integral to membrane	protein binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	7						TCTGCCTGCTCTACGGGAAGT	0.572000													38	5					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													5	47					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78452854	78452854	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:78452854C>T	ENST00000397909.2	+	12	2768	c.2595C>T	c.(2593-2595)atC>atT	p.I865I	NAV3_ENST00000266692.7_Silent_p.I865I|NAV3_ENST00000228327.6_Silent_p.I865I|NAV3_ENST00000536525.2_Silent_p.I865I|RP11-136F16.1_ENST00000549103.1_RNA			Q8IVL0	NAV3_HUMAN	neuron navigator 3	865						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCCGGGACATCATCCAGAGAG	0.398000										HNSCC(70;0.22)			10	32					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91659268	91659268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:91659268G>A	ENST00000359028.2	+	16	4469	c.4244G>A	c.(4243-4245)gGa>gAa	p.G1415E	AKAP9_ENST00000356239.3_Missense_Mutation_p.G1403E|AKAP9_ENST00000358100.2_Missense_Mutation_p.G1415E			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1415					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ATGTACCCTGGAAGTTGTGTG	0.269000			T	BRAF	papillary thyroid								24	50					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169697229	169697229	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169697229C>T	ENST00000333360.7	-	8	1388	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367775.1_Intron|SELE_ENST00000367776.1_Intron|SELE_ENST00000367782.4_Missense_Mutation_p.E417K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.E417K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	417	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGTCCCACTCCCCTGTGGGG	0.453000													42	142					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13876923	13876923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13876923G>A	ENST00000265104.4	-	22	3370	c.3266C>T	c.(3265-3267)aCc>aTc	p.T1089I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1089	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATCTCCAAGGTATCTAAAAA	0.328000									Kartagener syndrome				14	51					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70944612	70944612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:70944612C>T	ENST00000357250.6	-	34	2302	c.2144G>A	c.(2143-2145)gGg>gAg	p.G715E	COL9A1_ENST00000320755.7_Missense_Mutation_p.G472E|COL9A1_ENST00000370499.4_Missense_Mutation_p.G472E|COL9A1_ENST00000489611.1_5'UTR|RP1-149L1.1_ENST00000522264.1_RNA	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	715	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCCTCAGGCCCTCTCAAGCC	0.572000													9	33					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198190	101198190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:101198190G>A	ENST00000294728.2	+	7	1843	c.1742G>A	c.(1741-1743)gGa>gAa	p.G581E	VCAM1_ENST00000370119.4_Missense_Mutation_p.G519E|VCAM1_ENST00000347652.2_Missense_Mutation_p.G489E|VCAM1_ENST00000370115.1_Missense_Mutation_p.G382E	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	581	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTATGTGAAGGAATTAACCAG	0.408000													22	29					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265528	10265528	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10265528C>T	ENST00000418404.3	-	4	575	c.412G>A	c.(412-414)Gag>Aag	p.E138K	MYH13_ENST00000570743.1_Missense_Mutation_p.E138K|MYH13_ENST00000252172.4_Missense_Mutation_p.E138K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	138	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCACCACCTCGGGCTTGTAC	0.537000													82	36					0	0	1	0	0
TRIM71	131405	broad.mit.edu	37	3	32915324	32915324	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:32915324C>T	ENST00000383763.4	+	2	930	c.867C>T	c.(865-867)taC>taT	p.Y289Y		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase	289					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGCACCTGTACTGTGACACTT	0.597000													94	320					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160268102	160268102	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:160268102C>T	ENST00000264431.4	+	19	3600	c.3181C>T	c.(3181-3183)Ctt>Ttt	p.L1061F		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1061					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCCGTGTCCCTTTATCCTTC	0.502000													76	50					0	0	1	0	0
TRBV7-3	28595	broad.mit.edu	37	7	142247269	142247269	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142247269C>T	ENST00000390361.3	-	0	236																											ATTAGAAACTCTGGGCCCTGC	0.527000													21	49					0	0	1	0	0
CRYBB3	1417	broad.mit.edu	37	22	25603033	25603033	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25603033C>T	ENST00000215855.2	+	6	570	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	164	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						CTATGAGTTCCCCGGCTACCG	0.637000													14	68					0	0	1	0	0
RBBP5	5929	broad.mit.edu	37	1	205069147	205069147	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205069147G>A	ENST00000264515.6	-	8	939	c.798C>T	c.(796-798)atC>atT	p.I266I	RBBP5_ENST00000367164.1_Silent_p.I266I	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	266					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AACCTGCCACGATGTATTCCC	0.522000													22	96					0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147011019	147011019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:147011019C>T	ENST00000265272.5	-	14	2299	c.1832G>A	c.(1831-1833)gGt>gAt	p.G611D	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.G569D|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.G590D	NM_014790.3	NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	611						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACTCACACCATCTGAGAA	0.353000													30	11					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53015110	53015110	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53015110C>T	ENST00000421239.2	+	6	1720	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		ACAAGACCTTCAGTCACAGGT	0.398000													12	56					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236902629	236902629	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:236902629C>T	ENST00000366578.4	+	10	1070	c.904C>T	c.(904-906)Ccc>Tcc	p.P302S	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000546208.1_Intron|ACTN2_ENST00000542672.1_Missense_Mutation_p.P302S	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	302					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TCGCACGATCCCCTGGCTGGA	0.532000													51	78					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170116	207170116	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:207170116C>T	ENST00000374423.3	+	5	1250	c.864C>T	c.(862-864)ttC>ttT	p.F288F		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	288							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTTGAAATTCCATGAACGCA	0.358000													6	21					0	0	1	0	0
PKD1L2	114780	broad.mit.edu	37	16	81228577	81228577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:81228577C>T	ENST00000599697.1	-	8	1596	c.1597G>A	c.(1597-1599)Gaa>Aaa	p.E533K	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	533	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTCCCGATTTCCAAACTCAGG	0.493000													26	3					0	0	1	0	0
IGHA2	3494	broad.mit.edu	37	14	106054209	106054209	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106054209G>A	ENST00000390539.2	-	0	309																											GGAGGTGGGGGAACTGGAGTG	0.682000													8	11					0	0	1	0	0
METTL15	196074	broad.mit.edu	37	11	28134888	28134888	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:28134888C>T	ENST00000342303.5	+	3	462	c.7C>T	c.(7-9)Cgg>Tgg	p.R3W	METTL15_ENST00000379199.2_Missense_Mutation_p.R3W|METTL15_ENST00000403099.1_Missense_Mutation_p.R3W|METTL15_ENST00000303459.6_Missense_Mutation_p.R3W|METTL15_ENST00000407364.3_Missense_Mutation_p.R3W|METTL15_ENST00000406787.3_Missense_Mutation_p.R3W	NM_152636.2	NP_689849.2	A6NJ78	MET15_HUMAN	methyltransferase like 15	3							methyltransferase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						CAAAATGCTTCGGTATCCATA	0.289000													10	34					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121209083	121209083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:121209083G>A	ENST00000297848.3	+	6	760	c.490G>A	c.(490-492)Gat>Aat	p.D164N	COL14A1_ENST00000247781.3_Missense_Mutation_p.D164N|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_Missense_Mutation_p.D164N|COL14A1_ENST00000309791.4_Missense_Mutation_p.D164N	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	164	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AATCCTGGTCGATGGTTCATG	0.438000													19	68					0	0	1	0	0
MAN1B1	11253	broad.mit.edu	37	9	139995980	139995980	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139995980C>T	ENST00000371589.4	+	8	1183	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S	MAN1B1_ENST00000474902.1_Silent_p.S73S	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	370					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GAACACCATCCAAGATTCCTT	0.547000													13	12					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15308372	15308372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:15308372C>T	ENST00000263388.2	-	2	211	c.136G>A	c.(136-138)Gga>Aga	p.G46R		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	46	EGF-like 1.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACGGGCTTCCGTCCAGGCAA	0.672000													8	29					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28447509	28447509	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:28447509A>T	ENST00000261609.7	-	46	7572	c.7464T>A	c.(7462-7464)aaT>aaA	p.N2488K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2488					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCTGGATGCATTCCCGGAAG	0.557000													29	26					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11568150	11568150	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11568150G>A	ENST00000262442.3	+	15	2664	c.2595_splice	c.e15-1	p.E866_splice	DNAH9_ENST00000454412.2_Splice_Site_p.E866_splice	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	866	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCTTTTATAGGAAAACCTGGG	0.338000													18	24					0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179545842	179545842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:179545842G>A	ENST00000393371.2	-	8	1228	c.932C>T	c.(931-933)tCc>tTc	p.S311F	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.S311F|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.S160F|RASGEF1C_ENST00000519883.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	311	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTCAGCCTGGAGACAGGGCT	0.632000													42	31					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913210	77913210	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:77913210G>A	ENST00000321110.1	-	2	1003	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	236							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATTGCAGGGGGAAATCTGTAG	0.502000													21	1					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829338	146829338	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:146829338G>A	ENST00000361727.3	+	8	1601	c.1083_splice	c.e8-1	p.G362_splice		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	362	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.G362E(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATTTTACAGGGAAATTTGAGC	0.433000										HNSCC(39;0.1)			41	53					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101413904	101413904	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:101413904G>A	ENST00000392979.3	+	8	1083	c.722G>A	c.(721-723)gGa>gAa	p.G241E	ANO4_ENST00000392977.3_Missense_Mutation_p.G276E|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	276						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TATGAAGAAGGAAAAAACAAG	0.318000										HNSCC(74;0.22)			11	1					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390643	124390643	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124390643C>T	ENST00000368909.3	+	46	5911	c.5805C>T	c.(5803-5805)gcC>gcT	p.A1935A	DMBT1_ENST00000368956.2_Silent_p.A1307A|DMBT1_ENST00000330163.4_Silent_p.A1307A|DMBT1_ENST00000338354.3_Silent_p.A1935A|DMBT1_ENST00000344338.3_Silent_p.A1925A|DMBT1_ENST00000368955.3_Silent_p.A1925A|DMBT1_ENST00000359586.6_Silent_p.A655A	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1935	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CAGTTTCAGCCCTTGGAAATG	0.572000													21	51					0	0	1	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166912059	166912059	+	Silent	SNP	G	G	A	rs144324870		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:166912059G>A	ENST00000510118.1	-	10	1099	c.759C>T	c.(757-759)ccC>ccT	p.P253P	RPS6KA2_ENST00000481261.2_Silent_p.P139P|RPS6KA2_ENST00000405189.3_Silent_p.P139P|RPS6KA2_ENST00000366863.2_Silent_p.P74P|RPS6KA2_ENST00000503859.1_Silent_p.P236P|RPS6KA2_ENST00000265678.4_Silent_p.P228P			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	228	Protein kinase 1.				axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		TCACCACCTCGGGCGCCATGT	0.612000													13	24					0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175198	143175198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143175198G>A	ENST00000408916.1	+	1	233	c.233G>A	c.(232-234)gGg>gAg	p.G78E	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	78					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GAGTACTCTGGGGGTCTCGGC	0.537000													29	74					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47549147	47549147	+	Silent	SNP	C	C	T	rs145268174		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:47549147C>T	ENST00000357838.4	+	28	2581	c.2499C>T	c.(2497-2499)ttC>ttT	p.F833F	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Silent_p.F833F	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	570	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CGGTCACCTTCCTCCGCACGG	0.677000													53	63					0	0	1	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363575	21363575	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:21363575C>T	ENST00000452284.1	+	0	1242				THAP7-AS1_ENST00000436079.1_RNA|TUBA3FP_ENST00000422086.1_RNA	NR_027051.1																						AGGGCTCCGTCATGGCCATGG	0.562000													17	177					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962772	73962772	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73962772G>A	ENST00000373468.1	-	3	2271	c.1620C>T	c.(1618-1620)atC>atT	p.I540I	KIAA2022_ENST00000055682.5_Silent_p.I540I			Q5QGS0	K2022_HUMAN	KIAA2022	540					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGATATATTTGATAATAACAG	0.423000													23	2					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	551954	551954	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:551954G>A	ENST00000270115.7	+	11	1525	c.1025G>A	c.(1024-1026)aGg>aAg	p.R342K		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	342										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGGAGCGTAGGCACCAGTGC	0.687000													7	30					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52575934	52575934	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:52575934C>T	ENST00000395489.2	-	11	1348	c.952G>A	c.(952-954)Gga>Aga	p.G318R	A1CF_ENST00000374001.1_Missense_Mutation_p.G325R|A1CF_ENST00000282641.2_Missense_Mutation_p.G325R|A1CF_ENST00000395495.1_Missense_Mutation_p.G270R|A1CF_ENST00000373997.3_Missense_Mutation_p.G325R|A1CF_ENST00000373993.1_Missense_Mutation_p.G325R|A1CF_ENST00000493415.1_5'UTR|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373995.3_Missense_Mutation_p.G333R	NM_001198819.1	NP_001185748.1	Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	325					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GTATACTCTCCTTGCAGCATG	0.522000													13	40					0	0	1	0	0
ROR1	4919	broad.mit.edu	37	1	64606074	64606074	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:64606074G>A	ENST00000371079.1	+	6	1268	c.893G>A	c.(892-894)cGg>cAg	p.R298Q	RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR|ROR1_ENST00000371080.1_Missense_Mutation_p.R298Q	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	298	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						AACTGTATCCGGATTGGAATT	0.473000													15	11					0	0	1	0	0
FMR1NB	158521	broad.mit.edu	37	X	147090223	147090223	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:147090223C>T	ENST00000370467.3	+	4	698	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	208						integral to membrane		p.F208L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTCTTTTCTGGAGGAGGT	0.378000													43	4					0	0	1	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43475369	43475369	+	Silent	SNP	C	C	T	rs141908251		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:43475369C>T	ENST00000532038.1	-	9	1257	c.1122G>A	c.(1120-1122)tcG>tcA	p.S374S	ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000528384.1_Silent_p.S228S|ARHGAP27_ENST00000455881.1_Silent_p.S255S|ARHGAP27_ENST00000442348.1_Silent_p.S569S|ARHGAP27_ENST00000532891.2_Silent_p.S574S|ARHGAP27_ENST00000428638.1_Silent_p.S596S|ARHGAP27_ENST00000376922.2_Silent_p.S255S			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	596					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TGATGGCCTCCGAGTCGTGCT	0.632000													34	54					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124335982	124335982	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124335982C>T	ENST00000368909.3	+	7	457	c.351C>T	c.(349-351)atC>atT	p.I117I	DMBT1_ENST00000368956.2_Silent_p.I117I|DMBT1_ENST00000330163.4_Silent_p.I117I|DMBT1_ENST00000338354.3_Silent_p.I117I|DMBT1_ENST00000344338.3_Silent_p.I117I|DMBT1_ENST00000368955.3_Silent_p.I117I|DMBT1_ENST00000359586.6_Silent_p.I117I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	117	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface 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)				GAGTGGAGATCCTATACCGAG	0.562000													45	110					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117311262	117311262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:117311262C>T	ENST00000369478.3	+	5	1021	c.913C>T	c.(913-915)Cag>Tag	p.Q305*		NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	305	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACACCGTGTTCAGCACCAGCC	0.612000													54	79					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993437	140993437	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140993437C>T	ENST00000285879.4	+	4	533	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	83							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGATTCCCCAGAGTTC	0.572000										HNSCC(15;0.026)			33	41					0	0	1	0	0
PLD3	23646	broad.mit.edu	37	19	40877667	40877667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40877667C>T	ENST00000409587.1	+	9	1163	c.766C>T	c.(766-768)Cag>Tag	p.Q256*	PLD3_ENST00000409735.4_Nonsense_Mutation_p.Q256*|PLD3_ENST00000409419.1_Nonsense_Mutation_p.Q256*|PLD3_ENST00000409281.1_Nonsense_Mutation_p.Q256*|PLD3_ENST00000356508.5_Nonsense_Mutation_p.Q256*			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	256					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GTTCCTGGGCCAGGCAGGCAG	0.577000													22	31					0	0	1	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21032478	21032478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:21032478C>T	ENST00000381545.3	+	11	1463	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S415L|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S415L|LST3_ENST00000540229.1_Missense_Mutation_p.S415L	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	415					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTTCTTACTTCGATGATATCC	0.343000													12	41					0	0	1	0	0
OR5A1	219982	broad.mit.edu	37	11	59211055	59211055	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:59211055C>T	ENST00000302030.2	+	1	439	c.414C>T	c.(412-414)atC>atT	p.I138I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACCCCACTATCATGACCCAGG	0.542000													50	221					0	0	1	0	0
PLEKHG4	25894	broad.mit.edu	37	16	67322425	67322425	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:67322425C>T	ENST00000360461.5	+	20	6023	c.3488C>T	c.(3487-3489)cCa>cTa	p.P1163L	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.P1082L|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.P1163L|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.P1163L	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1163					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TCCCAATGCCCATCAGCCAGT	0.627000													22	46					0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39019850	39019850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39019850G>A	ENST00000251643.4	-	5	1005	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	328	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ATCTCCTTACGGAGCTCCCCG	0.567000													24	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179589021	179589021	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179589021C>T	ENST00000589042.1	-	72	21305	c.21081G>A	c.(21079-21081)ggG>ggA	p.G7027G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G5783G|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.G6710G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6710	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTGCTTTTCCCAACATTAT	0.383000													16	24					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150445246	150445246	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:150445246C>T	ENST00000401000.4	+	10	3809	c.3744C>T	c.(3742-3744)ccC>ccT	p.P1248P	RPRD2_ENST00000369068.4_Silent_p.P1274P|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1274	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CTCCTCCTCCCCCTCCTGGGG	0.622000													28	85					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625498	140625498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140625498C>T	ENST00000231173.3	+	1	352	c.352C>T	c.(352-354)Cga>Tga	p.R118*		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		118	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGAAGTATTTCGAGCTGAACT	0.433000													21	78					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128176322	128176322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128176322C>T	ENST00000543064.1	-	2	251	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	THEMIS_ENST00000368248.2_Missense_Mutation_p.E35K|THEMIS_ENST00000537166.1_5'UTR|THEMIS_ENST00000368250.1_5'UTR	NM_001164685.1	NP_001158157.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	35	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCAAACATTTCATAAATAGAG	0.284000													6	9					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138208523	138208523	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:138208523G>A	ENST00000409968.1	+	15	3246	c.3068G>A	c.(3067-3069)cGa>cAa	p.R1023Q	THSD7B_ENST00000413152.2_Missense_Mutation_p.R992Q|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1023Q|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGAGAATTCGATCCAAATGG	0.413000													18	10					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61621690	61621690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:61621690C>T	ENST00000583023.1	+	12	2433	c.2422C>T	c.(2422-2424)Ccc>Tcc	p.P808S	KCNH6_ENST00000581784.1_Missense_Mutation_p.P719S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P719S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P772S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	808					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AAGGCACAGCCCCCAAAGCCC	0.607000													21	22					0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2161121	2161121	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2161121G>A	ENST00000262304.4	-	15	4255	c.4047C>T	c.(4045-4047)ttC>ttT	p.F1349F	PKD1_ENST00000423118.1_Silent_p.F1349F	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1349	PKD 8.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCTCCGCGTGAAGTTGTGTG	0.662000													12	18					0	0	1	0	0
ERMARD	55780	broad.mit.edu	37	6	170176089	170176089	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:170176089C>G	ENST00000588451.1	+	14	1553	c.1040C>G	c.(1039-1041)aCg>aGg	p.T347R	C6orf70_ENST00000392095.4_Missense_Mutation_p.T357R|C6orf70_ENST00000418781.3_Missense_Mutation_p.T483R|C6orf70_ENST00000366773.3_Missense_Mutation_p.T483R|C6orf70_ENST00000366772.2_Missense_Mutation_p.T483R			Q5T6L9	CF070_HUMAN		483						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ACAAAAATGACGGATGAGCTG	0.378000													11	19					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132207172	132207172	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:132207172G>A	ENST00000260818.6	+	30	3546	c.3298G>A	c.(3298-3300)Gag>Aag	p.E1100K		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1100							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATCCTTGTTGAGAAGGTTGC	0.348000													16	37					0	0	1	0	0
GUF1	60558	broad.mit.edu	37	4	44684357	44684357	+	Nonsense_Mutation	SNP	C	C	T	rs116300982	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:44684357C>T	ENST00000281543.5	+	5	708	c.514C>T	c.(514-516)Caa>Taa	p.Q172*	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	172					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TCAGGGAATTCAAGCCCAAAC	0.333000													59	9					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201054598	201054598	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201054598C>T	ENST00000362061.3	-	8	1342	c.1116G>A	c.(1114-1116)caG>caA	p.Q372Q	CACNA1S_ENST00000367338.3_Silent_p.Q372Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	372	Binding to the beta subunit (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGACCTCGCCCTGCGTGATCC	0.577000											OREG0014068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	133					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55599339	55599339	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:55599339A>T	ENST00000288135.5	+	17	2562	c.2465A>T	c.(2464-2466)aAt>aTt	p.N822I		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	822	Protein kinase.		N -> K (in a germ cell tumor of the testis; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.N822S(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATGATTCTAATTATGTGGTT	0.378000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				186	4					0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122441	153122441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153122441G>A	ENST00000368748.4	-	2	184	c.146C>T	c.(145-147)cCa>cTa	p.P49L		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	49					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGGCATGGTGGAGGTGGGCA	0.572000													63	45					0	0	1	0	0
BCORL1	63035	broad.mit.edu	37	X	129159108	129159108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:129159108C>T	ENST00000540052.1	+	6	3876	c.3832C>T	c.(3832-3834)Cgc>Tgc	p.R1278C	BCORL1_ENST00000303743.5_Missense_Mutation_p.R1278C|BCORL1_ENST00000218147.7_Missense_Mutation_p.R1278C|BCORL1_ENST00000359304.2_Intron	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1278					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACCCAGTATCGCAGCCACCA	0.607000													43	4					0	0	1	0	0
RNFT1	51136	broad.mit.edu	37	17	58031471	58031471	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:58031471C>T	ENST00000305783.8	-	8	1163	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	RP11-178C3.1_ENST00000591035.1_Intron|RNFT1_ENST00000442346.2_3'UTR	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	370						integral to membrane	zinc ion binding			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			TCATCCACATCTGAACACTGT	0.323000													13	24					0	0	1	0	0
ZIC4	84107	broad.mit.edu	37	3	147113783	147113783	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:147113783C>T	ENST00000383075.3	-	3	1056	c.544G>A	c.(544-546)Gga>Aga	p.G182R	ZIC4_ENST00000473123.1_Missense_Mutation_p.G182R|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Missense_Mutation_p.G220R|ZIC4_ENST00000525172.2_Missense_Mutation_p.G232R|ZIC4_ENST00000484399.1_Missense_Mutation_p.G182R	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	182						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGGGCTTTCCCTGGCGCGGA	0.597000													113	64					0	0	1	0	0
LGSN	51557	broad.mit.edu	37	6	63990527	63990527	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:63990527T>A	ENST00000370657.4	-	4	962	c.929A>T	c.(928-930)gAt>gTt	p.D310V	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	310					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	AATCCCTGAATCACAAAATCC	0.418000													6	41					0	0	1	0	0
OR8J3	81168	broad.mit.edu	37	11	55904475	55904475	+	Silent	SNP	G	G	A	rs147104612	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55904475G>A	ENST00000301529.1	-	1	719	c.720C>T	c.(718-720)acC>acT	p.T240T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCGAAGCGCAGGTGGAAAAGG	0.393000													16	62					0	0	1	0	0
REV3L	5980	broad.mit.edu	37	6	111688404	111688404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:111688404G>A	ENST00000435970.1	-	16	7169	c.6353C>T	c.(6352-6354)tCa>tTa	p.S2118L	REV3L_ENST00000358835.3_Missense_Mutation_p.S2196L|REV3L_ENST00000368802.3_Missense_Mutation_p.S2196L|REV3L_ENST00000368805.1_Missense_Mutation_p.S2196L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2196					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		AAAGCAAAGTGATTCACATTT	0.413000								DNA polymerases (catalytic subunits)					16	26					0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66812087	66812087	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66812087C>T	ENST00000393946.2	+	9	2023	c.861C>T	c.(859-861)atC>atT	p.I287I	SYT12_ENST00000527043.1_Silent_p.I287I|SYT12_ENST00000525457.1_Silent_p.I287I			Q8IV01	SYT12_HUMAN	synaptotagmin XII	287	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						TGGGGGAGATCCTGCTCTCCC	0.637000													33	31					0	0	1	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74833598	74833598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:74833598C>T	ENST00000370895.1	+	15	1609	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.S525F|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000326637.3_Missense_Mutation_p.S424F|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.S525F|TNNI3K_ENST00000370891.2_Missense_Mutation_p.S525F			Q59H18	TNI3K_HUMAN		424	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										CTAGATGGCTCCTATGTGTCT	0.308000													28	24					0	0	1	0	0
KRT15	3866	broad.mit.edu	37	17	39672149	39672149	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39672149G>A	ENST00000254043.3	-	5	4599	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	KRT15_ENST00000393981.3_Silent_p.S173S|KRT15_ENST00000393976.2_Silent_p.S338S|KRT15_ENST00000393974.3_Silent_p.S173S	NM_002275.3	NP_002266.2	P19012	K1C15_HUMAN	keratin 15	338	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TGCTGAGCTGGGACTGCAGCT	0.577000													35	141					0	0	1	0	0
NACAP1	83955	broad.mit.edu	37	8	102381223	102381223	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:102381223C>T	ENST00000419462.1	+	0	635					NR_002182.1																						GGAACAGAATCTGACAGTGAT	0.527000													10	33					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702241	81702241	+	Silent	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81702241A>C	ENST00000372292.3	-	4	376	c.336T>G	c.(334-336)ggT>ggG	p.G112G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	112	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GACCAGGCACACCGGGAGGTC	0.572000													12	37					0	0	1	0	0
LOC101929006	101929006	broad.mit.edu	37	6	29230478	29230478	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29230478C>T	ENST00000441381.1	+	0	79																											ACTCCTTATTCCTTAGTGGGA	0.413000													5	35					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769101	13769101	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13769101G>A	ENST00000265104.4	-	58	9969	c.9865C>T	c.(9865-9867)Cca>Tca	p.P3289S	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3289	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTAAAGCTGGTTTTGCTGCT	0.458000									Kartagener syndrome				117	49					0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138208	72138208	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:72138208C>T	ENST00000555818.1	+	8	2976	c.2628C>T	c.(2626-2628)tgC>tgT	p.C876C	SIPA1L1_ENST00000537413.1_Silent_p.C351C|SIPA1L1_ENST00000358550.2_Silent_p.C876C|SIPA1L1_ENST00000381232.3_Silent_p.C876C	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	876					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AACTAGACTGCCTTTTAGGGA	0.483000													20	101					0	0	1	0	0
SERPINI2	5276	broad.mit.edu	37	3	167184936	167184936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:167184936C>T	ENST00000476257.1	-	4	683	c.385G>A	c.(385-387)Gaa>Aaa	p.E129K	SERPINI2_ENST00000461846.1_Missense_Mutation_p.E129K|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E129K|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E129K			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	129					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						TGAAAAAATTCCTTGTTGCCA	0.373000													9	37					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118583359	118583359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:118583359C>T	ENST00000336338.5	-	22	3225	c.3160G>A	c.(3160-3162)Gaa>Aaa	p.E1054K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1054						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTACCTTTTTCAAACATTGTC	0.403000													30	12					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89587622	89587622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:89587622G>A	ENST00000370466.3	-	2	296	c.28C>T	c.(28-30)Cca>Tca	p.P10S		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	10					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.P10S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		AGGCTCATTGGGCCCGGCAAG	0.488000													25	37					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511758	61511758	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61511758C>T	ENST00000266070.4	-	16	5875	c.5550G>A	c.(5548-5550)ggG>ggA	p.G1850G	DIDO1_ENST00000395343.1_Silent_p.G1850G	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1850	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCTCTTCTCCCCATGGGGAT	0.607000													76	82					0	0	1	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186948542	186948542	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:186948542C>T	ENST00000367466.3	+	17	2208	c.2056C>T	c.(2056-2058)Cca>Tca	p.P686S	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P626S	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	686	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TTTTCAATATCCAAATCAAGC	0.353000													32	52					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19020603	19020603	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:19020603G>A	ENST00000304381.5	+	2	307	c.177G>A	c.(175-177)cgG>cgA	p.R59R	TMC7_ENST00000569532.1_Silent_p.R59R|TMC7_ENST00000421369.3_5'UTR	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	59			R -> W (in dbSNP:rs17854512).			integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TCCATTCCCGGGACAAGCAAA	0.507000													27	40					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901615	51901615	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51901615G>A	ENST00000268919.4	+	1	1377	c.1221G>A	c.(1219-1221)ggG>ggA	p.G407G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	407	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGAAATAGGGAATAGCTGTC	0.517000													16	37					0	0	1	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51628483	51628483	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51628483G>A	ENST00000440804.3	+	1	319	c.252G>A	c.(250-252)tgG>tgA	p.W84*	SIGLEC9_ENST00000250360.3_Nonsense_Mutation_p.W84*	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	84	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGGCAGTGTGGGAGGAGACTC	0.567000													19	66					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844719	123844719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123844719C>T	ENST00000369005.1	+	4	3044	c.2704C>T	c.(2704-2706)Caa>Taa	p.Q902*	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Nonsense_Mutation_p.Q902*|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Nonsense_Mutation_p.Q902*|TACC2_ENST00000515603.1_Nonsense_Mutation_p.Q902*|TACC2_ENST00000515273.1_Nonsense_Mutation_p.Q902*	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	902						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ATCAGAACTTCAAAGTCAGCT	0.498000													8	37					0	0	1	0	0
NDN	4692	broad.mit.edu	37	15	23931842	23931842	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:23931842C>T	ENST00000331837.4	-	1	608	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	175	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.E175Q(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGTCCAGCTCCTCGGGCTCC	0.652000									Prader-Willi syndrome				12	19					0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57258022	57258022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:57258022G>A	ENST00000343433.6	-	2	544	c.464C>T	c.(463-465)tCa>tTa	p.S155L	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	155										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GAGAAGGGCTGAAGACATTTC	0.448000													44	8					0	0	1	0	0
KRTAP5-1	387264	broad.mit.edu	37	11	1605732	1605732	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1605732C>A	ENST00000382171.2	-	1	781	c.748G>T	c.(748-750)Ggg>Tgg	p.G250W	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	250	8 X 4 AA repeats of C-C-X-P.					keratin filament		p.G250W(1)		endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CAGGATGACCCACAGCCTGAG	0.592000													55	58					3.4597e-24	3.50522e-24	1	1	0
PKLR	5313	broad.mit.edu	37	1	155263135	155263135	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155263135C>T	ENST00000392414.3	-	9	1290		c.e9-1		PKLR_ENST00000342741.4_Splice_Site	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC						endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CCCGGGCAATCTGCAGGTGCC	0.597000													15	57					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815590	23815590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:23815590C>T	ENST00000264867.2	-	8	1635	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	506					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CCATCCATGGCTAGTCCTGAA	0.428000													24	23					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16861050	16861050	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16861050C>T	ENST00000524140.2	+	6	2015	c.1597C>T	c.(1597-1599)Cca>Tca	p.P533S	NWD1_ENST00000552788.1_Missense_Mutation_p.P533S|NWD1_ENST00000549814.1_Missense_Mutation_p.P533S|NWD1_ENST00000339803.6_Missense_Mutation_p.P398S|NWD1_ENST00000379808.3_Missense_Mutation_p.P533S|NWD1_ENST00000523826.1_Missense_Mutation_p.P327S	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	533	NACHT.						ATP binding	p.P533T(1)|p.P398T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGTGGGAACCCAGGGCGGCT	0.642000													12	53					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753680	49753680	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49753680G>A	ENST00000304801.3	-	1	1373	c.1221C>T	c.(1219-1221)atC>atT	p.I407I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	407					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CTCCAGGAAGGATTTTACCTT	0.458000													61	58					0	0	1	0	0
HBE1	3046	broad.mit.edu	37	11	5290833	5290833	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5290833G>A	ENST00000380237.1	-	4	510	c.166C>T	c.(166-168)Ctg>Ttg	p.L56L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Silent_p.L56L			P02100	HBE_HUMAN	hemoglobin, epsilon 1	56					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGTTGCCCAGGATGGCAGAG	0.488000													23	71					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126542724	126542724	+	Missense_Mutation	SNP	C	C	T	rs13309334	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:126542724C>T	ENST00000339582.2	-	6	1836	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	GRM8_ENST00000405249.1_Missense_Mutation_p.R343Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.R343Q|GRM8_ENST00000358373.3_Missense_Mutation_p.R343Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	343			R -> Q (in dbSNP:rs13309334).		negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R343Q(2)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TCTAAAGTATCGATCAAATCC	0.348000										HNSCC(24;0.065)			11	20					0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32462053	32462053	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:32462053C>T	ENST00000283365.9	+	20	2282	c.1931C>T	c.(1930-1932)cCc>cTc	p.P644L	DTNA_ENST00000399121.5_Missense_Mutation_p.P648L|DTNA_ENST00000556414.3_Missense_Mutation_p.P353L|DTNA_ENST00000269190.7_Missense_Mutation_p.P702L|DTNA_ENST00000399113.3_Missense_Mutation_p.P701L|DTNA_ENST00000269192.7_Missense_Mutation_p.P410L|DTNA_ENST00000444659.1_Missense_Mutation_p.P701L|DTNA_ENST00000601125.1_Missense_Mutation_p.P323L|DTNA_ENST00000598142.1_Missense_Mutation_p.P644L|DTNA_ENST00000590831.2_Missense_Mutation_p.P127L|DTNA_ENST00000399097.3_Missense_Mutation_p.P349L|DTNA_ENST00000595022.1_Missense_Mutation_p.P641L|DTNA_ENST00000598334.1_Missense_Mutation_p.P641L|DTNA_ENST00000591182.1_Missense_Mutation_p.P349L|DTNA_ENST00000592449.1_3'UTR	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	701					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATGCAGATCCCTATGTGCAG	0.433000													28	10					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82475918	82475918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82475918G>A	ENST00000423517.2	-	12	14133	c.13796C>T	c.(13795-13797)tCc>tTc	p.S4599F	PCLO_ENST00000333891.8_Missense_Mutation_p.S4599F|PCLO_ENST00000426442.2_5'UTR	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4487	C2 1.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGATGCTGGGAATTTTCAGA	0.338000													17	34					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99362128	99362128	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:99362128C>T	ENST00000376503.5	-	12	993	c.938G>A	c.(937-939)gGg>gAg	p.G313E		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	313					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	TACGATTTTCCCGGACATAGT	0.373000													34	27					0	0	1	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033692	26033692	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26033692G>A	ENST00000259791.2	-	1	104	c.105C>T	c.(103-105)ctC>ctT	p.L35L		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	35					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TGCCTTTGCGGAGCAGGCGGT	0.652000													18	64					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973894	74973894	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74973894C>T	ENST00000261978.4	-	26	4281	c.3895G>A	c.(3895-3897)Gga>Aga	p.G1299R	LTBP2_ENST00000556690.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1299	Cys-rich.|EGF-like 14; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		ATGCAGTCTCCGTTCGGGGCC	0.552000													42	34					0	0	1	0	0
OR2B3	442184	broad.mit.edu	37	6	29054686	29054686	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29054686G>A	ENST00000377173.2	-	1	404	c.340C>T	c.(340-342)Ctt>Ttt	p.L114F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3									p.L114F(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						ACAGCCAGAAGGAGACACTCT	0.468000													43	51					0	0	1	0	0
TGFBI	7045	broad.mit.edu	37	5	135388740	135388740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:135388740C>T	ENST00000442011.2	+	8	1219	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	TGFBI_ENST00000305126.8_Missense_Mutation_p.S353F	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	353	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCGATCATCTCCAATAAAGAC	0.602000													31	14					0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76603085	76603085	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:76603085A>C	ENST00000287239.4	+	3	959	c.470A>C	c.(469-471)aAa>aCa	p.K157T	KAT6B_ENST00000372725.1_Missense_Mutation_p.K157T|KAT6B_ENST00000372714.1_Missense_Mutation_p.K157T|KAT6B_ENST00000372711.1_Missense_Mutation_p.K157T|KAT6B_ENST00000372724.1_Missense_Mutation_p.K157T	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	MYST4_HUMAN	K(lysine) acetyltransferase 6B	157	H15.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CTGGGGGCCAAACGCGCTGTG	0.522000													32	15					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26423531	26423531	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26423531C>T	ENST00000335473.7	+	43	7841	c.7591C>T	c.(7591-7593)Cca>Tca	p.P2531S	MYO18B_ENST00000407587.2_Missense_Mutation_p.P2532S|MYO18B_ENST00000536101.1_Missense_Mutation_p.P2531S	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2531						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCAGGAATCCCACGACTTGC	0.582000													9	23					0	0	1	0	0
CAP2	10486	broad.mit.edu	37	6	17541264	17541264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:17541264G>A	ENST00000229922.2	+	9	1419	c.887G>A	c.(886-888)gGa>gAa	p.G296E	CAP2_ENST00000378990.2_Missense_Mutation_p.G270E|CAP2_ENST00000489374.1_Missense_Mutation_p.G184E|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.G232E	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	296					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			CGGGCTCAAGGAGGGCAAACT	0.473000													61	108					0	0	1	0	0
SLC34A2	10568	broad.mit.edu	37	4	25665839	25665839	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:25665839G>A	ENST00000382051.3	+	4	316	c.266G>A	c.(265-267)gGg>gAg	p.G89E	SLC34A2_ENST00000504570.1_Missense_Mutation_p.G88E|SLC34A2_ENST00000503434.1_Missense_Mutation_p.G88E	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	89					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GACACCAAAGGGAAGATTCTC	0.468000			T	ROS1	NSCLC								27	29					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107423353	107423353	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:107423353G>A	ENST00000409382.3	-	6	1981	c.1371C>T	c.(1369-1371)atC>atT	p.I457I	ST6GAL2_ENST00000361686.4_Silent_p.I457I	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	457					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GCACGGATGGGATATATTCAT	0.507000													10	21					0	0	1	0	0
NRD1	4898	broad.mit.edu	37	1	52344246	52344246	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:52344246C>T	ENST00000354831.7	-	1	231	c.42G>A	c.(40-42)cgG>cgA	p.R14R	NRD1_ENST00000352171.7_Silent_p.R14R|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	14					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						ACAACTTCCTCCGGGTGGCAC	0.632000													13	0					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433938	49433938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49433938G>A	ENST00000301067.7	-	31	7614	c.7615C>T	c.(7615-7617)Cct>Tct	p.P2539S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		ACTGCCTGAGGGAAAGTGAAA	0.637000													8	31					0	0	1	0	0
C19orf18	147685	broad.mit.edu	37	19	58472862	58472862	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58472862C>T	ENST00000314391.3	-	5	530	c.429G>A	c.(427-429)agG>agA	p.R143R		NM_152474.4	NP_689687.1	Q8NEA5	CS018_HUMAN	chromosome 19 open reading frame 18	143						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		ATAACGGTATCCTGAGGTTCT	0.448000													16	65					0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47882580	47882580	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:47882580G>A	ENST00000289672.2	-	34	5475	c.5425C>T	c.(5425-5427)Ccg>Tcg	p.P1809S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1809	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AACCTGGCCGGAGCTCGGAAG	0.493000													17	74					0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23862712	23862712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23862712C>T	ENST00000405093.3	-	23	3014	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	MYH6_ENST00000356287.3_Missense_Mutation_p.E982K	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	982					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCATCTCCTCTGTTAGGTTC	0.532000													88	138					0	0	1	0	0
CBLL1	79872	broad.mit.edu	37	7	107399489	107399489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:107399489G>A	ENST00000440859.2	+	6	1809	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	CBLL1_ENST00000222597.2_Missense_Mutation_p.G447R	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	448	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACAACCAGGGGGAATGAGTCC	0.532000													36	47					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502263	140502263	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140502263G>A	ENST00000194152.1	+	1	683	c.683G>A	c.(682-684)cGa>cAa	p.R228Q		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		228	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCATGGTTCGAATCCTGATC	0.537000													28	80					0	0	1	0	0
MACROD2	140733	broad.mit.edu	37	20	15967379	15967379	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:15967379G>A	ENST00000217246.4	+	14	1388	c.993G>A	c.(991-993)gaG>gaA	p.E331E	MACROD2_ENST00000402914.1_Silent_p.E96E|MACROD2_ENST00000310348.4_Silent_p.E331E|MACROD2_ENST00000378058.3_Silent_p.E96E|MACROD2_ENST00000407045.3_5'UTR	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	331	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CAGGACAAGAGAATGATTCAA	0.333000													8	24					0	0	1	0	0
CSF1R	1436	broad.mit.edu	37	5	149441314	149441314	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149441314C>T	ENST00000286301.3	-	12	2016	c.1725G>A	c.(1723-1725)tgG>tgA	p.W575*	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	575					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	GGGGGAACTCCCACTTCTCGT	0.567000													23	82					0	0	1	0	0
PRSS55	203074	broad.mit.edu	37	8	10387076	10387076	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10387076A>G	ENST00000328655.3	+	2	254	c.214A>G	c.(214-216)Atg>Gtg	p.M72V	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.M72V	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	72	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CACAGGGGGGATGGAGGCGGA	0.507000													5	251					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039810	36039810	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:36039810C>T	ENST00000282507.3	-	5	945	c.843_splice	c.e5-1	p.D282_splice	UGT3A2_ENST00000513300.1_Splice_Site_p.D248_splice|UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	282						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTCCAAGTCCTGGAGAAAG	0.443000													5	40					0	0	1	0	0
SEMG1	6406	broad.mit.edu	37	20	43836332	43836332	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43836332G>A	ENST00000372781.3	+	2	451	c.394G>A	c.(394-396)Gga>Aga	p.G132R	SEMG1_ENST00000244069.6_Missense_Mutation_p.G132R	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACACCATAAAGGAGGCAAAGC	0.408000													19	28					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49888605	49888605	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49888605C>T	ENST00000553127.1	+	8	859	c.346C>T	c.(346-348)Caa>Taa	p.Q116*	SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000552918.1_Nonsense_Mutation_p.Q116*|SPATS2_ENST00000321898.6_Nonsense_Mutation_p.Q116*			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	116						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTTTCCATTCAAGAGGAACA	0.423000													15	14					0	0	1	0	0
ACP6	51205	broad.mit.edu	37	1	147131132	147131132	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:147131132G>A	ENST00000369238.5	-	4	949	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W	ACP6_ENST00000392988.2_Missense_Mutation_p.R168W	NM_016361.3	NP_057445.4	Q9NPH0	PPA6_HUMAN	acid phosphatase 6, lysophosphatidic	168					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					TCCAGATTCCGAAAAATGTTA	0.413000													26	153					0	0	1	0	0
LGR4	55366	broad.mit.edu	37	11	27401879	27401879	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:27401879G>A	ENST00000379214.4	-	10	1353	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	LGR4_ENST00000389858.4_Missense_Mutation_p.R280C	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	304						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CTTGCACCACGAATGACTCTT	0.338000													21	83					0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3677342	3677342	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:3677342G>A	ENST00000344754.4	-	10	2573	c.2574C>T	c.(2572-2574)tcC>tcT	p.S858S	SIGLEC1_ENST00000202578.4_Silent_p.S858S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	858	Ig-like C2-type 8.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTAACTTCAGGGAGTTGGCCT	0.592000													27	74					0	0	1	0	0
MGMT	4255	broad.mit.edu	37	10	131506243	131506243	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:131506243C>T	ENST00000306010.7	+	3	335	c.303C>T	c.(301-303)ttC>ttT	p.F101F	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	101										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		ATGCCTATTTCCACCAGCCCG	0.602000								Direct reversal of damage					64	37					0	0	1	0	0
C3orf58	205428	broad.mit.edu	37	3	143704391	143704391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:143704391C>T	ENST00000315691.3	+	2	1199	c.664C>T	c.(664-666)Ccg>Tcg	p.P222S	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_5'UTR|C3orf58_ENST00000495414.1_Missense_Mutation_p.P13S	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	222						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTAGAGTTTTCCGTCTGATGA	0.368000													30	55					0	0	1	0	0
RPSAP52	204010	broad.mit.edu	37	12	66152025	66152025	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:66152025C>T	ENST00000489520.2	-	0	918					NR_026825.2																						CAGAGGGCACCTGCATGCCTT	0.522000													6	13					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179721055	179721055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179721055C>T	ENST00000420890.2	-	18	2911	c.2794G>A	c.(2794-2796)Gaa>Aaa	p.E932K	CCDC141_ENST00000295723.5_Missense_Mutation_p.E357K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	357							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CGAGATTTTTCATTTTTCTTA	0.289000													10	33					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479545	4479545	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:4479545G>A	ENST00000237837.1	-	3	865	c.720C>T	c.(718-720)ggC>ggT	p.G240G		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	240					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			AGCCTTCCGGGCCCGTTCCCC	0.647000													25	91					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909126	123909126	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123909126C>T	ENST00000330487.5	-	1	591	c.583G>A	c.(583-585)Gag>Aag	p.E195K		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATGACCATCTCGTTGGCTGAG	0.542000													17	131					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101504308	101504308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:101504308C>T	ENST00000392979.3	+	22	2532	c.2171C>T	c.(2170-2172)cCt>cTt	p.P724L	ANO4_ENST00000392977.3_Missense_Mutation_p.P759L|ANO4_ENST00000550015.1_Missense_Mutation_p.P279L|ANO4_ENST00000299222.9_Missense_Mutation_p.P279L	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	759						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGGAGGAGACCTTTAGCTTCA	0.368000										HNSCC(74;0.22)			29	3					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59012770	59012770	+	Silent	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:59012770G>T	ENST00000263093.2	-	4	1174	c.1065C>A	c.(1063-1065)acC>acA	p.T355T	SLC27A5_ENST00000601355.1_Silent_p.T271T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	355					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CCAGAACACAGGTGGCTCCTG	0.562000													34	42					5.91797e-21	5.98918e-21	1	1	0
GIMAP8	155038	broad.mit.edu	37	7	150164104	150164104	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150164104C>T	ENST00000307271.3	+	2	892	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	106						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TCGGCCATTTCACAAGGGAGG	0.507000													38	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179648797	179648797	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179648797C>T	ENST00000589042.1	-	16	2999	c.2775_splice	c.e16+1	p.K925_splice	TTN_ENST00000342992.6_Splice_Site_p.K925_splice|TTN_ENST00000460472.2_Splice_Site_p.K879_splice|TTN_ENST00000359218.5_Splice_Site_p.K879_splice|TTN_ENST00000342175.6_Splice_Site_p.K879_splice|TTN_ENST00000360870.5_Splice_Site_p.K925_splice|TTN_ENST00000591111.1_Splice_Site_p.K925_splice	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	925							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGACCAACCTTGGCTTCGC	0.547000													21	37					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11713620	11713620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11713620C>T	ENST00000262442.3	+	45	8709	c.8641C>T	c.(8641-8643)Ctc>Ttc	p.L2881F	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2881F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2881	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CACAGTGTTTCTCATGACTGA	0.453000													17	76					0	0	1	0	0
SULT1C4	27233	broad.mit.edu	37	2	109002725	109002725	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:109002725C>T	ENST00000272452.2	+	6	1019	c.693C>T	c.(691-693)gtC>gtT	p.V231V	SULT1C4_ENST00000409309.3_Silent_p.V156V	NM_006588.2	NP_006579.2	O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 4	231					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATAAAATTGTCCATTACACTT	0.358000													8	20					0	0	1	0	0
SV2B	9899	broad.mit.edu	37	15	91811757	91811757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:91811757G>A	ENST00000394232.1	+	9	1765	c.1295G>A	c.(1294-1296)gGt>gAt	p.G432D	SV2B_ENST00000330276.4_Missense_Mutation_p.G432D|SV2B_ENST00000545111.2_Missense_Mutation_p.G281D	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	432					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGTTTTTTGGTGAGCATGTG	0.413000													167	412					0	0	1	0	0
EPHB1	2047	broad.mit.edu	37	3	134898711	134898711	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:134898711G>A	ENST00000398015.3	+	10	2139	c.1769G>A	c.(1768-1770)gGg>gAg	p.G590E	EPHB1_ENST00000493838.1_Missense_Mutation_p.G151E	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	590						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCTCCCCAGGGATGAAGATC	0.483000													52	118					0	0	1	0	0
BHMT	635	broad.mit.edu	37	5	78411594	78411594	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:78411594T>A	ENST00000274353.5	+	2	145	c.38T>A	c.(37-39)aTc>aAc	p.I13N	BHMT_ENST00000524080.1_Missense_Mutation_p.I13N|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	13	Hcy-binding.				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	TTTTAGGGCATCCTAGAACGT	0.403000													26	21					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113424969	113424969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113424969G>A	ENST00000392583.2	+	2	511	c.304G>A	c.(304-306)Ggg>Agg	p.G102R	OAS2_ENST00000342315.4_Missense_Mutation_p.G102R|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Missense_Mutation_p.G102R	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	102	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CGATAAAACTGGGGATAAGCT	0.438000													15	54					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38906652	38906652	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38906652G>A	ENST00000312150.4	-	6	1215	c.1155C>T	c.(1153-1155)ctC>ctT	p.L385L		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	385	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTCCTATAAGGAGACAGTAGG	0.473000													49	165					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788365	10788365	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:10788365G>A	ENST00000283025.2	-	1	437	c.366C>T	c.(364-366)ctC>ctT	p.L122L		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	122					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						TGTCCTGCAAGAGCCTCATGG	0.652000													60	34					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237947165	237947165	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:237947165G>A	ENST00000366574.2	+	90	12470	c.12153G>A	c.(12151-12153)gcG>gcA	p.A4051A	RYR2_ENST00000542537.1_Silent_p.A4035A|RYR2_ENST00000360064.6_Silent_p.A4057A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4051	EF-hand.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCACAAAGCGATGGAGAGCC	0.443000													24	19					0	0	1	0	0
VIPAS39	63894	broad.mit.edu	37	14	77896033	77896033	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:77896033G>A	ENST00000553888.1	-	17	1767	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	VIPAS39_ENST00000556412.1_Silent_p.A445A|VIPAS39_ENST00000327028.4_Silent_p.A406A|VIPAS39_ENST00000557658.1_Silent_p.A419A|VIPAS39_ENST00000448935.2_Silent_p.A370A|VIPAS39_ENST00000343765.2_Silent_p.A419A	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CCTGCACAGGGGCATTGTTCT	0.498000													75	220					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326736	152326736	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152326736T>C	ENST00000388718.5	-	3	3598	c.3526A>G	c.(3526-3528)Acc>Gcc	p.T1176A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1176	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAACTTGTGGTTGGACCTGAG	0.483000													51	81					0	0	1	0	0
CRK	1398	broad.mit.edu	37	17	1340260	1340260	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:1340260T>A	ENST00000300574.2	-	2	571	c.431A>T	c.(430-432)aAt>aTt	p.N144I	CRK_ENST00000398970.5_Missense_Mutation_p.N144I|CRK_ENST00000574295.1_Intron|CRK_ENST00000572145.1_5'UTR	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	144	SH3 1.				actin cytoskeleton organization|activation of MAPKK activity|blood coagulation|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of transcription from RNA polymerase II promoter	cytosol|endosome|nucleus|plasma membrane	protein binding|SH2 domain binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		ATCATTCCCATTAAAGTCAAA	0.507000													23	69					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657991	143657991	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143657991G>A	ENST00000392899.1	+	1	965	c.928G>A	c.(928-930)Ggg>Agg	p.G310R		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GAAATTCTCTGGGTTAACATC	0.433000													10	36					0	0	1	0	0
MYOZ2	51778	broad.mit.edu	37	4	120079232	120079232	+	Missense_Mutation	SNP	C	C	T	rs138061447		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:120079232C>T	ENST00000307128.5	+	4	515	c.302C>T	c.(301-303)tCg>tTg	p.S101L		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	101							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GAAGGTGGTTCGCAGCAAGCC	0.463000													58	49					0	0	1	0	0
CIDEB	27141	broad.mit.edu	37	14	24775314	24775314	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24775314C>T	ENST00000336557.5	-	7	1668	c.366G>A	c.(364-366)cgG>cgA	p.R122R	CIDEB_ENST00000554411.1_Silent_p.R122R|CIDEB_ENST00000258807.5_Silent_p.R122R|CIDEB_ENST00000556756.1_Intron|NOP9_ENST00000267425.3_3'UTR			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	122					apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis	cytosol				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		TGGGCCTCTCCCGTCCCAGGC	0.537000													33	75					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727907	35727907	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35727907G>A	ENST00000440995.2	+	21	3030	c.3030G>A	c.(3028-3030)gtG>gtA	p.V1010V	SPEF2_ENST00000356031.3_Silent_p.V1015V|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1015					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGTCTATGTGAATGAACCAG	0.428000													14	65					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186968109	186968109	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:186968109C>T	ENST00000337774.5	-	8	1409	c.1020G>A	c.(1018-1020)gtG>gtA	p.V340V	MASP1_ENST00000169293.6_Silent_p.V340V|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Silent_p.V314V|MASP1_ENST00000392472.2_Silent_p.V227V|MASP1_ENST00000296280.6_Silent_p.V340V	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	340	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TGTCCATCTCCACATTATCCT	0.473000													48	89					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63922670	63922670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:63922670C>T	ENST00000443617.2	-	69	13048	c.12961G>A	c.(12961-12963)Ggg>Agg	p.G4321R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4321					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTTACCTGCCCTTCTGAATTG	0.423000													54	189					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847747	95847747	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:95847747C>T	ENST00000398107.2	+	4	1570	c.1048C>T	c.(1048-1050)Cac>Tac	p.H350Y	ZNF2_ENST00000425369.1_Missense_Mutation_p.H312Y|ZNF2_ENST00000340539.5_Missense_Mutation_p.H392Y|ZNF2_ENST00000295210.6_Missense_Mutation_p.H354Y|ZNF2_ENST00000453539.2_Missense_Mutation_p.H405Y	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		TCAGCGTGTCCACACGGGAGA	0.507000													19	60					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772578	140772578	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140772578C>T	ENST00000398604.2	+	1	198	c.198C>T	c.(196-198)atC>atT	p.I66I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGTCCGTATCGTCTCCAGAG	0.617000													39	12					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152281535	152281535	+	Missense_Mutation	SNP	G	G	A	rs146249485		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152281535G>A	ENST00000368799.1	-	3	5862	c.5827C>T	c.(5827-5829)Ctt>Ttt	p.L1943F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1943	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGATCCAAGATGGTTTCTG	0.567000									Ichthyosis				100	315					0	0	1	0	0
DPM1	8813	broad.mit.edu	37	20	49575052	49575052	+	Silent	SNP	G	G	A	rs150509150	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:49575052G>A	ENST00000371582.4	-	1	40	c.9C>T	c.(7-9)tcC>tcT	p.S3S	DPM1_ENST00000371588.5_Silent_p.S3S|DPM1_ENST00000466152.1_5'UTR|DPM1_ENST00000371583.5_Silent_p.S3S			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	3					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TGACTTCCAAGGAGGCCATGG	0.572000													10	86					0	0	1	0	0
TREML4	285852	broad.mit.edu	37	6	41196546	41196546	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:41196546C>T	ENST00000341495.2	+	2	262	c.158C>T	c.(157-159)tCc>tTc	p.S53F	TREML4_ENST00000448827.2_Missense_Mutation_p.S53F	NM_198153.2	NP_937796.1	Q6UXN2	TRML4_HUMAN	triggering receptor expressed on myeloid cells-like 4	53	Ig-like V-type.					extracellular region		p.S53Y(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					CAGCCCAAATCCTGGTGTCAG	0.527000													23	66					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71205035	71205035	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:71205035C>T	ENST00000554752.2	-	8	1770	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	MAP3K9_ENST00000381250.4_Missense_Mutation_p.A591T|MAP3K9_ENST00000555993.2_Missense_Mutation_p.A591T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.A333T|MAP3K9_ENST00000554146.1_Missense_Mutation_p.A328T			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	591					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTCTTTGGGGCCCTCTTCTCC	0.567000													30	68					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826784	46826784	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46826784C>T	ENST00000283296.7	-	17	3144	c.2856G>A	c.(2854-2856)acG>acA	p.T952T	GPR116_ENST00000265417.7_Silent_p.T952T|GPR116_ENST00000456426.2_Silent_p.T810T|GPR116_ENST00000362015.4_Silent_p.T952T|GPR116_ENST00000545669.1_Silent_p.T381T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	952	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGACACACTTCGTTTCGCCGC	0.483000													16	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542465	179542465	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179542465G>A	ENST00000589042.1	-	146	34398	c.34174C>T	c.(34174-34176)Cca>Tca	p.P11392S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P10148S|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11075S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11075	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)			TCCTCAGGTGGAATTTCCTCT	0.438000													28	56					0	0	1	0	0
OR5H6	79295	broad.mit.edu	37	3	97983880	97983880	+	Missense_Mutation	SNP	G	G	A	rs145676438	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:97983880G>A	ENST00000383696.2	+	1	793	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R251Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAGGGATACGAAAAGCTGTC	0.398000													12	29					0	0	1	0	0
DYRK3	8444	broad.mit.edu	37	1	206821496	206821496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:206821496C>T	ENST00000367106.1	+	4	1366	c.893C>T	c.(892-894)tCc>tTc	p.S298F	DYRK3_ENST00000367108.3_Missense_Mutation_p.S298F|DYRK3_ENST00000367109.2_Missense_Mutation_p.S318F|DYRK3_ENST00000489878.1_Intron			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	318	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTGCCCAGTCCATCTTGCAA	0.433000													17	103					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307821	39307821	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39307821C>T	ENST00000541347.1	-	2	419	c.180G>A	c.(178-180)aaG>aaA	p.K60K	CX3CR1_ENST00000542107.1_Silent_p.K60K|CX3CR1_ENST00000358309.3_Silent_p.K92K|CX3CR1_ENST00000399220.2_Silent_p.K60K	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	60					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TCTTGGGCTTCTTGCTGTTGG	0.478000													16	64					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24722115	24722115	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:24722115G>A	ENST00000376454.3	+	4	775	c.745G>A	c.(745-747)Gat>Aat	p.D249N	KIAA1217_ENST00000458595.1_Missense_Mutation_p.D249N|KIAA1217_ENST00000430453.2_Missense_Mutation_p.D170N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D249N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D169N	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	249					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TGAATTAAATGATGTAAGGTA	0.358000													9	34					0	0	1	0	0
AATK	9625	broad.mit.edu	37	17	79093188	79093188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79093188G>A	ENST00000326724.4	-	13	4100	c.4076C>T	c.(4075-4077)tCc>tTc	p.S1359F	AATK_ENST00000417379.1_Missense_Mutation_p.S1256F	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1359						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			ACCTCTCTTGGACTCGGCGTC	0.731000													4	23					0	0	1	0	0
ZNF841	284371	broad.mit.edu	37	19	52569978	52569978	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52569978G>A	ENST00000389534.4	-	7	1616	c.1157C>T	c.(1156-1158)tCc>tTc	p.S386F	ZNF841_ENST00000359973.2_Missense_Mutation_p.S270F|ZNF841_ENST00000594295.1_Missense_Mutation_p.S386F|ZNF841_ENST00000426391.2_Missense_Mutation_p.S270F|ZNF432_ENST00000598446.1_Intron	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGCAAGAGAGGAACTTTGACT	0.403000													6	7					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412124	51412124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51412124G>A	ENST00000319760.6	-	1	324	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCTTGGAAGGAAATAGTCTT	0.438000													11	27					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8604855	8604855	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8604855G>A	ENST00000338257.8	-	16	1935	c.1668C>T	c.(1666-1668)ccC>ccT	p.P556P		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	556	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGCGGTGCTGGGGCGCCCCT	0.637000													20	22					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428807	43428807	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43428807G>A	ENST00000406070.2	-	0	1509					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				acattttggtgagttctgagt	0.423000													4	1					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322150	79322150	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:79322150G>A	ENST00000428286.1	-	8	5163	c.3963C>T	c.(3961-3963)gtC>gtT	p.V1321V	PRUNE2_ENST00000376718.3_Silent_p.V1680V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1680					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGTTGAAATGACCCTGGCAT	0.468000													10	20					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66747280	66747280	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:66747280C>T	ENST00000359742.4	-	24	3316	c.3076G>A	c.(3076-3078)Gag>Aag	p.E1026K	GRIP1_ENST00000286445.7_Missense_Mutation_p.E1011K|GRIP1_ENST00000398016.3_Missense_Mutation_p.E974K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	1026	PDZ 7.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		ACTCCTTTCTCCAGTAAGCCA	0.478000													38	159					0	0	1	0	0
ZSCAN23	222696	broad.mit.edu	37	6	28403698	28403698	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28403698C>T	ENST00000289788.4	-	2	491	c.346G>A	c.(346-348)Gga>Aga	p.G116R	ZSCAN23_ENST00000486481.1_Intron	NM_001012455.1	NP_001012458.1	Q3MJ62	ZSC23_HUMAN	zinc finger and SCAN domain containing 23	116	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|prostate(1)|stomach(2)	4						GCCTCCTCTCCACTCACAGGA	0.562000													3	30					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014765	75014765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75014765C>T	ENST00000379727.3	-	2	872	c.674G>A	c.(673-675)gGg>gAg	p.G225E	CYP1A1_ENST00000395049.4_Missense_Mutation_p.G225E|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000567032.1_Missense_Mutation_p.G225E|CYP1A1_ENST00000395048.2_Missense_Mutation_p.G225E			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	225					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AACCACCTCCCCGAAATTATT	0.493000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				13	88					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203242220	203242220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:203242220C>T	ENST00000374580.4	+	1	562	c.23C>T	c.(22-24)cCc>cTc	p.P8L	BMPR2_ENST00000374574.2_Missense_Mutation_p.P8L	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	8					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						CTGCAGCGGCCCTGGCGGGTG	0.652000													19	53					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11545982	11545982	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11545982T>A	ENST00000389362.4	-	3	1065	c.1030A>T	c.(1030-1032)Aag>Tag	p.K344*	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CCTTGTGGCTTTCCTGGAGGT	0.602000													130	158					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178580547	178580547	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178580547G>A	ENST00000251582.7	-	9	1561	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.S487F	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	487	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCGTTCATGGAGTAGTGCAG	0.672000													6	32					0	0	1	0	0
PLEKHS1	79949	broad.mit.edu	37	10	115526241	115526241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:115526241C>T	ENST00000361048.1	+	3	427	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	PLEKHS1_ENST00000369312.4_5'UTR|PLEKHS1_ENST00000369310.3_Nonsense_Mutation_p.Q28*	NM_024889.4	NP_079165.3			pleckstrin homology domain containing, family S member 1																		ACCACCTTCTCAGCTGTTCTC	0.338000													20	38					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32263882	32263882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32263882C>T	ENST00000360482.2	-	9	2200	c.2071G>A	c.(2071-2073)Gac>Aac	p.D691N	SPOCD1_ENST00000533231.1_Missense_Mutation_p.D691N|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.D184N	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	691	TFIIS central.				transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CGCACCAGGTCGTAGGGGGTG	0.647000													49	3					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164767591	164767591	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:164767591G>A	ENST00000264382.3	-	14	1647	c.1585C>T	c.(1585-1587)Ccg>Tcg	p.P529S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	529	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GGAGTAAACGGTGGATAATTC	0.274000										HNSCC(35;0.089)			10	41					0	0	1	0	0
TRIM50	135892	broad.mit.edu	37	7	72727133	72727133	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:72727133G>A	ENST00000333149.2	-	7	1448	c.1248C>T	c.(1246-1248)ctC>ctT	p.L416L	TRIM50_ENST00000453152.1_Silent_p.L416L	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	416	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGTGCAGGTAGAGCCCGATGC	0.682000													10	6					0	0	1	0	0
STXBP2	6813	broad.mit.edu	37	19	7707209	7707209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7707209G>A	ENST00000441779.2	+	9	854	c.817G>A	c.(817-819)Gac>Aac	p.D273N	STXBP2_ENST00000414284.2_Missense_Mutation_p.D259N|STXBP2_ENST00000221283.5_Missense_Mutation_p.D262N	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	262					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CATAGAGCAGGACACATACAG	0.612000													20	32					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179605373	179605373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179605373G>A	ENST00000589042.1	-	48	12811	c.12587C>T	c.(12586-12588)tCa>tTa	p.S4196L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.S3833L|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S3958L|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S4025L|TTN_ENST00000591111.1_Missense_Mutation_p.S3879L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3879							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S4025*(1)|p.S3833*(1)|p.S3958*(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)			AACTGTTAATGAATTAATTTG	0.393000													18	45					0	0	1	0	0
SH3BGRL2	83699	broad.mit.edu	37	6	80406229	80406229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:80406229G>A	ENST00000369838.4	+	3	438	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_031469.2	NP_113657.1	Q9UJC5	SH3L2_HUMAN	SH3 domain binding glutamic acid-rich protein like 2	87						nucleus	SH3 domain binding			large_intestine(2)|lung(3)	5		all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174)		BRCA - Breast invasive adenocarcinoma(397;0.0278)		TGAATCCAAGGAAAGCAACAC	0.313000													22	35					0	0	1	0	0
WDR62	284403	broad.mit.edu	37	19	36558769	36558769	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36558769C>T	ENST00000401500.2	+	7	774	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	WDR62_ENST00000388999.3_Silent_p.L247L|WDR62_ENST00000378860.4_3'UTR|WDR62_ENST00000270301.7_Silent_p.L247L	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	247					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCGGGCATCCTGGGCGAGCT	0.627000													14	74					0	0	1	0	0
TFPI	7035	broad.mit.edu	37	2	188368424	188368424	+	Silent	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:188368424G>T	ENST00000233156.3	-	2	366	c.72C>A	c.(70-72)gcC>gcA	p.A24A	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000339091.4_Silent_p.A24A|TFPI_ENST00000392365.1_Silent_p.A24A|TFPI_ENST00000409676.1_Silent_p.A24A	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	24					blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	CATTAAGAGGGGCAGGGGCAA	0.363000													18	43					2.5808e-16	2.60654e-16	1	1	0
IL5RA	3568	broad.mit.edu	37	3	3139681	3139681	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:3139681G>A	ENST00000446632.2	-	7	1156	c.582C>T	c.(580-582)atC>atT	p.I194I	IL5RA_ENST00000383846.1_Silent_p.I194I|IL5RA_ENST00000256452.3_Silent_p.I194I|IL5RA_ENST00000311981.8_Silent_p.I194I|IL5RA_ENST00000438560.1_Silent_p.I194I|IL5RA_ENST00000418488.2_Silent_p.I194I|IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000430514.2_Silent_p.I194I|IL5RA_ENST00000456302.1_Silent_p.I194I	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	194					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		ACCAGCATGCGATATTTCTCC	0.483000													23	55					0	0	1	0	0
GALNTL5	168391	broad.mit.edu	37	7	151716746	151716746	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:151716746C>T	ENST00000392800.2	+	9	1446	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*	GALNTL5_ENST00000431418.2_Nonsense_Mutation_p.R398*	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	398						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		GTTTTTTCTTCGAAAGCCTGG	0.378000													18	31					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45786747	45786747	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45786747G>A	ENST00000397928.1	+	4	979	c.534G>A	c.(532-534)aaG>aaA	p.K178K	TRPM2_ENST00000300481.9_Silent_p.K178K|TRPM2_ENST00000300482.5_Silent_p.K178K|TRPM2_ENST00000397932.2_Silent_p.K178K	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	178						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGGGGGCCAAGAACTTCAACA	0.617000													17	41					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2077157	2077157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2077157G>A	ENST00000262113.4	+	32	3878	c.3737G>A	c.(3736-3738)gGa>gAa	p.G1246E	MYOM2_ENST00000523438.1_Missense_Mutation_p.G671E	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1246					muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACCCCAGAAGGAATACGACTT	0.448000													10	43					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149240932	149240932	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:149240932C>T	ENST00000407073.1	+	10	3769	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	MBD5_ENST00000404807.1_Silent_p.I924I	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	924						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CTCTACCTATCTCTTTGCCAG	0.478000													44	101					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179456953	179456953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179456953G>A	ENST00000589042.1	-	302	59902	c.59678C>T	c.(59677-59679)tCa>tTa	p.S19893L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S17325L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S10828L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S10953L|TTN_ENST00000342175.6_Missense_Mutation_p.S11020L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S18252L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18252	Ig-like 110.						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)			AAGGTAACATGAATCTTTCCT	0.388000													19	6					0	0	1	0	0
LAD1	3898	broad.mit.edu	37	1	201356080	201356080	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201356080C>T	ENST00000391967.2	-	3	710	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	LAD1_ENST00000367313.3_Missense_Mutation_p.E151K	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	137						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ATTTCCAGTTCCTTCTTGGAG	0.642000													43	84					0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121206840	121206840	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:121206840G>A	ENST00000353487.2	-	7	1028	c.525C>T	c.(523-525)gtC>gtT	p.V175V		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	176						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGATCATGGCGACACAGAGGC	0.567000													7	18					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40643657	40643657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:40643657G>A	ENST00000298910.7	+	8	926	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	LRRK2_ENST00000343742.2_Missense_Mutation_p.E290K	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	290					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.E290K(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGTATTAAACGAAGTCCATGA	0.388000													11	22					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666631	12666631	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12666631G>A	ENST00000425538.1	+	14	2831	c.2631G>A	c.(2629-2631)ggG>ggA	p.G877G	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Silent_p.G829G	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	829					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TAAAAATTGGGAGCGAAGAGC	0.483000													22	57					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66099956	66099956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66099956C>T	ENST00000311320.4	-	10	2269	c.2143G>A	c.(2143-2145)Gag>Aag	p.E715K	RIN1_ENST00000530056.1_Missense_Mutation_p.E549K|RIN1_ENST00000424433.2_Intron	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	715	Ras and 14-3-3 protein binding region.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCCTCCTCCTCTGTCACAGCC	0.692000													39	140					0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68844210	68844210	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:68844210C>T	ENST00000261769.5	+	6	989	c.798C>T	c.(796-798)gtC>gtT	p.V266V	CDH1_ENST00000422392.2_Silent_p.V266V|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	266	Cadherin 2.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.?(4)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CCCAGGAGGTCTTTAAGGGGT	0.458000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				54	9					0	0	1	0	0
NACA	4666	broad.mit.edu	37	12	57111791	57111791	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57111791G>A	ENST00000454682.1	-	3	3804	c.3523C>T	c.(3523-3525)Cca>Tca	p.P1175S	NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTTGCAGCTGGGGTTGTGGGG	0.632000			T	BCL6	NHL								97	133					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761009	92761009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92761009G>A	ENST00000318238.4	-	5	5492	c.4276C>T	c.(4276-4278)Cct>Tct	p.P1426S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.P1426S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.P1426S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1426										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AAGAAATAAGGACCTGGATAT	0.388000													67	91					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382666	22382666	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22382666A>G	ENST00000328795.4	+	1	285	c.194A>G	c.(193-195)aAc>aGc	p.N65S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTCTGGGCAACTTGGCCTTC	0.463000													15	207					0	0	1	0	0
CDHR5	53841	broad.mit.edu	37	11	618056	618056	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:618056G>A	ENST00000358353.3	-	15	2338	c.2016C>T	c.(2014-2016)ggC>ggT	p.G672G	CDHR5_ENST00000349570.7_Silent_p.G478G|CDHR5_ENST00000397542.2_Silent_p.G672G			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	672					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCAGCACCCCGCCCAGGGCCG	0.652000													7	37					0	0	1	0	0
C8orf34	116328	broad.mit.edu	37	8	69358701	69358701	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:69358701G>A	ENST00000523686.1	+	3	404	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	C8orf34_ENST00000349492.3_Intron|C8orf34_ENST00000518698.1_Intron|C8orf34_ENST00000337103.4_Intron|C8orf34_ENST00000539993.1_Intron|C8orf34_ENST00000348340.2_Intron			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	446					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)			ATCATGTAAGGAAGTCTCTTA	0.328000													10	27					0	0	1	0	0
RBM47	54502	broad.mit.edu	37	4	40440320	40440320	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:40440320G>A	ENST00000319592.4	-	4	1300	c.591C>T	c.(589-591)gcC>gcT	p.A197A	RBM47_ENST00000295971.7_Silent_p.A197A|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000514014.1_Silent_p.A159A|RBM47_ENST00000381793.2_Silent_p.A197A|RBM47_ENST00000381795.6_Silent_p.A197A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	197	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ACTCCACGAAGGCGAAGCCGC	0.662000													11	32					0	0	1	0	0
SNORD114-2	767578	broad.mit.edu	37	14	101418254	101418254	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:101418254G>A	ENST00000363953.1	+	0	62					NR_003194.1																						GTTTGTATCTGGAAATCTGAG	0.343000													14	63					0	0	1	0	0
GLB1L2	89944	broad.mit.edu	37	11	134214297	134214297	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134214297C>T	ENST00000535456.2	+	3	489	c.301C>T	c.(301-303)Ctg>Ttg	p.L101L	GLB1L2_ENST00000389881.3_Silent_p.L101L|GLB1L2_ENST00000339772.7_Silent_p.L101L	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	101					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TCCGTGGAACCTGCATGAGCC	0.468000													9	100					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40320539	40320539	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40320539C>T	ENST00000593685.1	-	5	969	c.501G>A	c.(499-501)acG>acA	p.T167T	DYRK1B_ENST00000348817.3_Silent_p.T167T|DYRK1B_ENST00000430012.2_Silent_p.T167T|DYRK1B_ENST00000323039.5_Silent_p.T167T|DYRK1B_ENST00000597639.1_Silent_p.T167T			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	167	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			ACTTCATCTCCGTGTCATGCT	0.577000													7	16					0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821771	35821771	+	Silent	SNP	G	G	A	rs17173508		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:35821771G>A	ENST00000337385.3	-	3	537	c.162C>T	c.(160-162)ttC>ttT	p.F54F	KCNE1_ENST00000399286.2_Silent_p.F54F|KCNE1_ENST00000432085.1_Silent_p.F54F|KCNE1_ENST00000399289.3_Silent_p.F54F|KCNE1_ENST00000399284.1_Silent_p.F54F|KCNE1_ENST00000416357.2_Silent_p.F54F	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	54					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	TGAAGAAGCCGAAGAATCCCA	0.607000													202	285					0	0	1	0	0
ATP7A	538	broad.mit.edu	37	X	77296150	77296150	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:77296150C>T	ENST00000341514.6	+	19	3875	c.3720C>T	c.(3718-3720)atC>atT	p.I1240I	ATP7A_ENST00000343533.5_Silent_p.I1162I|ATP7A_ENST00000350425.4_Silent_p.I243I	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1240					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AACTGGCTATCCATATTCTGA	0.408000													32	29					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237285828	237285828	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:237285828C>T	ENST00000409907.3	-	13	1753	c.1478_splice	c.e13-1	p.R493_splice	IQCA1_ENST00000431676.2_Splice_Site_p.R452_splice|IQCA1_ENST00000309507.5_Splice_Site_p.R490_splice			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	493							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACTCGATGGTCCTGGGGAGAA	0.448000													25	22					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22960702	22960702	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:22960702C>T	ENST00000397703.2	+	4	873	c.188C>T	c.(187-189)cCc>cTc	p.P63L	TNFRSF10C_ENST00000520607.1_Intron|TNFRSF10C_ENST00000356864.3_Intron|TNFRSF10C_ENST00000540813.1_Intron			O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	0					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCAGTGAGTCCCGGCCGCGGT	0.711000													13	18					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58510269	58510269	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:58510269G>A	ENST00000302819.5	-	11	1701	c.1410C>T	c.(1408-1410)ctC>ctT	p.L470L	ACOX2_ENST00000459701.2_Silent_p.L456L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	470					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CAGATGGAGAGAGAGATCTCT	0.627000													46	28					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117622149	117622149	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117622149C>T	ENST00000368508.3	-	42	6919	c.6721G>A	c.(6721-6723)Gaa>Aaa	p.E2241K	ROS1_ENST00000368507.3_Missense_Mutation_p.E2235K	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2241					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAAAGCTTTCATTTATGACT	0.323000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								8	14					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113764178	113764178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:113764178C>T	ENST00000259211.6	+	3	539	c.128C>T	c.(127-129)aCt>aTt	p.T43I		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	43					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						TTCCCAGTCACTATTGCCTTA	0.498000													70	151					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21213293	21213293	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21213293C>T	ENST00000574002.1	-	13	1821	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.D447N|ZP2_ENST00000574091.1_Missense_Mutation_p.D447N			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	447	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GGAGGAAAATCCGTCCAGAGA	0.363000													25	32					0	0	1	0	0
SIGLECL1	284369	broad.mit.edu	37	19	51768643	51768643	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51768643C>T	ENST00000316401.7	+	3	425	c.44C>T	c.(43-45)tCc>tTc	p.S15F	SIGLECL1_ENST00000597824.1_Intron|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_Intron	NM_173635.1	NP_775906.1			SIGLEC family like 1																		CTGCTCAACTCCTCTTGCTCC	0.572000													35	64					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2075961	2075961	+	Silent	SNP	G	G	A	rs145807526		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2075961G>A	ENST00000544865.1	-	13	3765	c.3255C>T	c.(3253-3255)acC>acT	p.T1085T	SMG6_ENST00000536871.2_Silent_p.T208T|SMG6_ENST00000354901.4_Silent_p.T208T|SMG6_ENST00000263073.5_Silent_p.T1116T			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1116					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTTATCCGAGGTTTTCTCCA	0.527000													17	65					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411972	51411972	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51411972G>A	ENST00000319760.6	-	1	476	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCACCAACAGAAGGAAGCAA	0.463000													26	31					0	0	1	0	0
VGLL3	389136	broad.mit.edu	37	3	87027862	87027862	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:87027862C>T	ENST00000398399.2	-	2	580	c.217G>A	c.(217-219)Gag>Aag	p.E73K	VGLL3_ENST00000383698.3_Missense_Mutation_p.E73K	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	73					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		tctttctcctcctcctcctcc	0.507000													15	17					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48218400	48218400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:48218400G>A	ENST00000394747.1	-	22	3558	c.3209C>T	c.(3208-3210)tCc>tTc	p.S1070F	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000356608.2_Missense_Mutation_p.S1070F|ABCC11_ENST00000353782.5_Missense_Mutation_p.S1070F|ABCC11_ENST00000394748.1_Missense_Mutation_p.S1070F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1070	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				GGGGGTGGAGGAAATGCCAAA	0.532000													39	2					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189869012	189869012	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:189869012G>A	ENST00000304636.3	+	40	3023	c.2853G>A	c.(2851-2853)ggG>ggA	p.G951G	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	951	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGATTGCTGGGATCACTGGAG	0.493000													5	18					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37744537	37744537	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:37744537G>A	ENST00000539465.1	+	16	3101	c.2508G>A	c.(2506-2508)agG>agA	p.R836R	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Silent_p.R836R			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	836						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGACCCTGAGGAAAAGAAGGT	0.552000													73	3					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24731284	24731284	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24731284G>A	ENST00000206765.6	-	2	398	c.275C>T	c.(274-276)tCc>tTc	p.S92F	TGM1_ENST00000544573.1_Intron	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	92	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GCTGCCCCGGGATACAGGCCG	0.637000													19	83					0	0	1	0	0
NPAS1	4861	broad.mit.edu	37	19	47548453	47548453	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47548453G>A	ENST00000602212.1	+	12	1537	c.1317G>A	c.(1315-1317)ccG>ccA	p.P439P	NPAS1_ENST00000602189.1_Silent_p.P264P|NPAS1_ENST00000449844.2_Silent_p.P439P|NPAS1_ENST00000439365.2_3'UTR			Q99742	NPAS1_HUMAN	neuronal PAS domain protein 1	439					central nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)	6		all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102)		all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252)		TTCCAGAGCCGGAGCCTCCGA	0.632000													7	13					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26089931	26089931	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26089931G>A	ENST00000313735.6	-	22	2926	c.2693C>T	c.(2692-2694)tCc>tTc	p.S898F		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	898	FAD-binding FR-type.				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGGGAGCTGGGAAAGCAGGAA	0.597000													7	16					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13737596	13737596	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13737596C>T	ENST00000265104.4	-	66	11324	c.11220G>A	c.(11218-11220)gaG>gaA	p.E3740E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3740	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTTTCTTTCTCCAATTCCT	0.368000									Kartagener syndrome				30	17					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10747352	10747352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10747352C>T	ENST00000586078.1	+	16	1620	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	SLC44A2_ENST00000335757.5_Missense_Mutation_p.S504F|SLC44A2_ENST00000407327.4_Missense_Mutation_p.S502F	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	504					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CACACAGGCTCCCTGGCCTTT	0.657000													4	22					0	0	1	0	0
ETV3L	440695	broad.mit.edu	37	1	157068665	157068665	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:157068665G>A	ENST00000454449.2	-	3	603	c.319C>T	c.(319-321)Ctg>Ttg	p.L107L		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	107						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GTCTTATGCAGGATCCTCTTA	0.478000													49	97					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344626	50344626	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50344626C>T	ENST00000199280.3	+	1	98	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	5					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GTGGGAGCTCCGCTCCATAGC	0.632000													35	39					0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35755682	35755682	+	Silent	SNP	G	G	A	rs141726973		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35755682G>A	ENST00000373861.5	+	3	355	c.261G>A	c.(259-261)cgG>cgA	p.R87R	CLPSL1_ENST00000542261.1_Silent_p.R86R			A2RUU4	CF127_HUMAN	colipase-like 1	87					digestion|lipid catabolic process	extracellular region	enzyme activator activity	p.R87R(1)									CCTGCCTGCGGAACCTGACTT	0.493000													25	94					0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61610405	61610405	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:61610405T>C	ENST00000398571.2	-	6	896	c.821_splice	c.e6+1	p.R274_splice		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	274					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TAAACTTACCTAATAACATAG	0.279000													11	65					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43243098	43243098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43243098C>T	ENST00000327495.5	-	2	392	c.208G>A	c.(208-210)Ggg>Agg	p.G70R	PSG3_ENST00000595140.1_Missense_Mutation_p.G70R|PSG3_ENST00000490592.1_5'UTR	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	70	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TTCATTTGCCCTTTGTACCAG	0.433000													60	211					0	0	1	0	0
RBMY2EP	159125	broad.mit.edu	37	Y	23562895	23562895	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:23562895G>A	ENST00000444169.1	-	0	103					NR_001574.2																						TTGCTGGTTCGATCCTTTATC	0.338000													5	13					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31284775	31284775	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:31284775C>T	ENST00000544665.3	+	8	865	c.794C>T	c.(793-795)cCc>cTc	p.P265L	ITGAM_ENST00000287497.8_Missense_Mutation_p.P265L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	265	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTTGGCGATCCCTTGGGATAT	0.502000													19	25					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835086	61835086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61835086G>A	ENST00000370339.3	-	4	547	c.206C>T	c.(205-207)tCc>tTc	p.S69F	YTHDF1_ENST00000370333.4_Missense_Mutation_p.S19F|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	69										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTCATTGAGGGAGTAAGGAAA	0.512000													10	89					0	0	1	0	0
IGSF3	3321	broad.mit.edu	37	1	117158795	117158795	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:117158795G>A	ENST00000369486.3	-	3	1093	c.328C>T	c.(328-330)Ctt>Ttt	p.L110F	IGSF3_ENST00000369483.1_Missense_Mutation_p.L110F|IGSF3_ENST00000318837.6_Missense_Mutation_p.L110F	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	110	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CGGGCCTGAAGATCTGTGATG	0.522000													27	32					0	0	1	0	0
C15orf57	90416	broad.mit.edu	37	15	40855196	40855196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:40855196C>T	ENST00000358005.3	-	2	292	c.19G>A	c.(19-21)Gct>Act	p.A7T	C15orf57_ENST00000561011.1_Missense_Mutation_p.A7T|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000560305.1_Missense_Mutation_p.A7T|C15orf57_ENST00000558750.1_Missense_Mutation_p.A16T|C15orf57_ENST00000559911.1_Missense_Mutation_p.A7T|C15orf57_ENST00000558113.1_Missense_Mutation_p.A7T|C15orf57_ENST00000416810.2_Missense_Mutation_p.A7T|C15orf57_ENST00000558871.1_Missense_Mutation_p.A7T	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	7								p.A7T(1)		endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GTAGAGTCAGCGCTCTCAAAC	0.438000													44	142					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4470843	4470843	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4470843C>T	ENST00000325719.4	+	1	319	c.274C>T	c.(274-276)Cgg>Tgg	p.R92W		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R92W(3)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCAGGGATCGGGAGATAAA	0.527000													19	60					0	0	1	0	0
SOX13	9580	broad.mit.edu	37	1	204091372	204091372	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:204091372C>G	ENST00000367204.1	+	9	978	c.869C>G	c.(868-870)tCc>tGc	p.S290C		NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	290	Pro-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGGAGCCCTCCCAGCCCCTG	0.632000													6	2					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48614415	48614415	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:48614415G>A	ENST00000297423.4	+	13	2290	c.1906G>A	c.(1906-1908)Gac>Aac	p.D636N	SPIDR_ENST00000517693.1_Missense_Mutation_p.D111N|SPIDR_ENST00000518074.1_Missense_Mutation_p.D576N|SPIDR_ENST00000541342.1_Missense_Mutation_p.D566N|SPIDR_ENST00000521214.1_3'UTR	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		CTGCTTAAGAGACATTCTCCA	0.418000													36	146					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762308	24762308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:24762308G>A	ENST00000376451.2	+	2	412	c.152G>A	c.(151-153)gGg>gAg	p.G51E	KIAA1217_ENST00000307544.6_Missense_Mutation_p.G51E|KIAA1217_ENST00000396446.1_Missense_Mutation_p.G51E|KIAA1217_ENST00000458595.1_Missense_Mutation_p.G333E|KIAA1217_ENST00000430453.2_Missense_Mutation_p.G254E|KIAA1217_ENST00000376452.3_Missense_Mutation_p.G333E|KIAA1217_ENST00000376454.3_Missense_Mutation_p.G333E|KIAA1217_ENST00000396445.1_Missense_Mutation_p.G51E|KIAA1217_ENST00000376462.1_Missense_Mutation_p.G253E			Q5T5P2	SKT_HUMAN	KIAA1217	333					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATTCCTTATGGGGGCACCCGC	0.607000													13	55					0	0	1	0	0
SLC15A4	121260	broad.mit.edu	37	12	129278818	129278818	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:129278818T>C	ENST00000266771.5	-	8	1696	c.1657A>G	c.(1657-1659)Att>Gtt	p.I553V	SLC15A4_ENST00000544112.1_Missense_Mutation_p.I216V|SLC15A4_ENST00000545031.1_Missense_Mutation_p.I70V	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	553					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		TTCACAGAAATAATGAGGAAA	0.468000													25	101					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9085622	9085622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9085622G>A	ENST00000397910.4	-	1	6396	c.6193C>T	c.(6193-6195)Cca>Tca	p.P2065S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2065	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTAGTACTTGGCCAAGTTGTA	0.478000													57	78					0	0	1	0	0
OR2B11	127623	broad.mit.edu	37	1	247614805	247614805	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247614805G>A	ENST00000318749.6	-	1	503	c.480C>T	c.(478-480)tcC>tcT	p.S160S		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCTGCACGAAGGAGTTGCCGA	0.602000													11	41					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228147231	228147231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228147231G>A	ENST00000396578.3	+	32	2801	c.2639G>A	c.(2638-2640)gGa>gAa	p.G880E	AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	880	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GGAAATCCGGGAATTTTAGGG	0.433000													13	19					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372940	24372940	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:24372940C>T	ENST00000005284.3	+	4	1906	c.704C>T	c.(703-705)tCa>tTa	p.S235L		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	235					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CGGAGGCGGTCAAGTTCTCGC	0.552000													22	19					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3077381	3077381	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3077381C>T	ENST00000326266.8	+	12	1121	c.825C>T	c.(823-825)ggC>ggT	p.G275G	THOC6_ENST00000575576.1_Silent_p.G251G|THOC6_ENST00000574549.1_Silent_p.G251G|THOC6_ENST00000253952.9_Intron	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	275					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTCAGCTGGCCAGGGCCGCT	0.652000													23	33					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	404985	404985	+	Missense_Mutation	SNP	G	G	A	rs143674187		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:404985G>A	ENST00000256509.2	+	14	2146	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	CHL1_ENST00000397491.2_Missense_Mutation_p.E486K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	486	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAACCACCGAAGAAGATGC	0.413000													19	35					0	0	1	0	0
KRTAP10-1	386677	broad.mit.edu	37	21	45959630	45959630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45959630G>A	ENST00000400375.1	-	1	448	c.404C>T	c.(403-405)tCc>tTc	p.S135F	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	135	24 X 5 AA repeats of C-C-X(3).|Poly-Ser.					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CTGGCTGGAGGAAGAGGCACA	0.587000													21	109					0	0	1	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395680	31395680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:31395680C>T	ENST00000328111.2	+	23	2854	c.2533C>T	c.(2533-2535)Cct>Tct	p.P845S	DNMT3B_ENST00000443239.3_Missense_Mutation_p.P720S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P837S|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P686S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P785L|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P762S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.P825S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	845					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCTTCGCCCCTCTGAAGGA	0.607000													34	69					0	0	1	0	0
KATNA1	11104	broad.mit.edu	37	6	149959630	149959630	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:149959630C>A	ENST00000367411.2	-	2	312	c.54G>T	c.(52-54)ttG>ttT	p.L18F	KATNA1_ENST00000335643.8_Missense_Mutation_p.L18F|KATNA1_ENST00000335647.5_Missense_Mutation_p.L18F	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	18	Interaction with KATNB1.|Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGTTTCCCAGCAATGCATATT	0.363000													35	46					1.60099e-16	1.61726e-16	1	1	0
RELN	5649	broad.mit.edu	37	7	103136991	103136991	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103136991C>G	ENST00000428762.1	-	56	9334	c.9175G>C	c.(9175-9177)Gtg>Ctg	p.V3059L	RELN_ENST00000343529.5_Missense_Mutation_p.V3059L|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.V3059L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3059					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAAGTGTCCACCAATTGGCTG	0.423000													12	66					0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51955670	51955670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51955670C>T	ENST00000321424.3	-	7	1529	c.1463G>A	c.(1462-1464)aGg>aAg	p.R488K	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.R379K|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.R395K	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	488					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GTTGTGATTCCTCAAACAGGC	0.542000													22	93					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219873832	219873832	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219873832C>T	ENST00000341552.5	-	29	4694	c.4611G>A	c.(4609-4611)caG>caA	p.Q1537Q	CCDC108_ENST00000453220.1_Silent_p.Q1537Q|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Silent_p.Q1537Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1537						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTTCCACTCCTGCAGCTCCT	0.562000													15	37					0	0	1	0	0
ZNF182	7569	broad.mit.edu	37	X	47836032	47836032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:47836032G>A	ENST00000396965.1	-	7	1804	c.1454C>T	c.(1453-1455)cCt>cTt	p.P485L	ZNF182_ENST00000305127.6_Missense_Mutation_p.P485L|ZNF182_ENST00000376943.3_Missense_Mutation_p.P466L	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GCACTCGTAAGGTTTCTCTCC	0.368000													18	19					0	0	1	0	0
EGLN1	54583	broad.mit.edu	37	1	231506358	231506358	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:231506358G>A	ENST00000366641.3	-	3	4253	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	EGLN1_ENST00000476717.1_5'UTR	NM_022051.2	NP_071334.1	Q9GZT9	EGLN1_HUMAN	egl-9 family hypoxia-inducible factor 1	366	Fe2OG dioxygenase.				negative regulation of sequence-specific DNA binding transcription factor activity|oxygen homeostasis|response to hypoxia	cytosol	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-proline dioxygenase activity|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)			Vitamin C(DB00126)	GGTCAGACCAGAAAAACAGCA	0.423000													61	43					0	0	1	0	0
DEDD2	162989	broad.mit.edu	37	19	42713875	42713875	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42713875G>A	ENST00000595337.1	-	4	653	c.566C>T	c.(565-567)tCc>tTc	p.S189F	DEDD2_ENST00000336034.4_Missense_Mutation_p.S184F|DEDD2_ENST00000596251.1_Missense_Mutation_p.S189F|DEDD2_ENST00000598727.1_Missense_Mutation_p.S189F|DEDD2_ENST00000593804.1_5'UTR	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	189					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				GCCTTCAGAGGAAGGTCTGGC	0.647000													31	61					0	0	1	0	0
TNFRSF10C	8794	broad.mit.edu	37	8	22960647	22960647	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:22960647C>T	ENST00000356864.3	+	1	545	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	TNFRSF10C_ENST00000520607.1_Intron|TNFRSF10C_ENST00000397703.2_Missense_Mutation_p.P45S|TNFRSF10C_ENST00000540813.1_5'UTR	NM_003841.3	NP_003832.2	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	5					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		GGCCCGGATCCCCAAGACCCT	0.701000													4	33					0	0	1	0	0
CDH26	60437	broad.mit.edu	37	20	58571079	58571079	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58571079C>T	ENST00000348616.4	+	12	2158	c.1858C>T	c.(1858-1860)Cct>Tct	p.P620S	CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Missense_Mutation_p.P620S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	620					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GGCCCTGTTCCCTGTCTGTGC	0.597000													9	46					0	0	1	0	0
ANKRD34B	340120	broad.mit.edu	37	5	79854508	79854508	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79854508G>C	ENST00000338682.3	-	5	2003	c.1331C>G	c.(1330-1332)aCc>aGc	p.T444S		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	444						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCCTTGTCTGGTTTGGGTAAC	0.453000													43	24					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8741159	8741159	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:8741159G>A	ENST00000311434.9	-	5	458	c.219C>T	c.(217-219)atC>atT	p.I73I	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	73					platelet activation	cytosol											GCAAGGGAATGATGACATGCC	0.572000													12	51					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128150661	128150661	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128150661C>T	ENST00000368250.1	-	4	930	c.432G>A	c.(430-432)ctG>ctA	p.L144L	THEMIS_ENST00000368248.2_Silent_p.L223L|THEMIS_ENST00000537166.1_Silent_p.L188L|THEMIS_ENST00000543064.1_Silent_p.L223L			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	223	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTTGAGAATCAGGGTACCAT	0.373000													13	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397432	179397432	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179397432C>T	ENST00000589042.1	-	358	104134	c.103910G>A	c.(103909-103911)cGg>cAg	p.R34637Q	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32069Q|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R25572Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R25697Q|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R25764Q|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R32996Q|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32996							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTGTACGCCGGCGGGCTGG	0.458000													25	17					0	0	1	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656481	29656481	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:29656481C>T	ENST00000216085.7	-	6	1241	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	273						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						TCCAGGCCTGCCTCTGAGGAG	0.667000													11	8					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21215695	21215695	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:21215695G>A	ENST00000574002.1	-	9	1206	c.724C>T	c.(724-726)Ctg>Ttg	p.L242L	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.L242L|ZP2_ENST00000574091.1_Silent_p.L242L			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	242					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTAAGCTTCAGAGACACCATG	0.423000													18	14					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520890	175520890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:175520890C>T	ENST00000454872.1	+	14	2415	c.2287C>T	c.(2287-2289)Caa>Taa	p.Q763*		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	763					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGAGACCCTTCAAGAAGCCCT	0.438000													8	24					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759407	94759407	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:94759407C>T	ENST00000450979.2	+	1	986	c.686C>T	c.(685-687)cCa>cTa	p.P229L		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	229	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GAGCTCTTCCCAGACATTTCT	0.552000													5	12					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551703	99551703	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:99551703C>T	ENST00000373034.4	-	6	4694	c.3019G>A	c.(3019-3021)Gac>Aac	p.D1007N	PCDH19_ENST00000420881.2_Missense_Mutation_p.D959N|PCDH19_ENST00000255531.7_Missense_Mutation_p.D960N	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1007					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGGCCGCAGTCGTCATAAGCC	0.572000													8	18					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42224740	42224740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:42224740G>A	ENST00000541110.1	-	11	3065	c.2497C>T	c.(2497-2499)Ccc>Tcc	p.P833S	TRERF1_ENST00000340840.2_Missense_Mutation_p.P730S|TRERF1_ENST00000372917.4_Missense_Mutation_p.P730S|TRERF1_ENST00000372922.4_Missense_Mutation_p.P813S|TRERF1_ENST00000354325.2_Missense_Mutation_p.P730S			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	813	ELM2.|Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TCTGGCCAGGGCTTCCATACC	0.512000													9	79					0	0	1	0	0
MAGEA5	4104	broad.mit.edu	37	X	151283933	151283933	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:151283933C>T	ENST00000509345.2	-	0	403																		p.G27V(1)									AGCCTGCACACCCACCAGGCC	0.627000													35	20					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40714396	40714396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40714396C>T	ENST00000373198.3	-	29	4245	c.4010G>A	c.(4009-4011)aGa>aAa	p.R1337K	PTPRT_ENST00000373201.1_Missense_Mutation_p.R1305K|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1324K|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1325K|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1314K|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1318K|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1315K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1315	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCGGAATATTCTGTGGATGAT	0.577000													55	46					0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869729	52869729	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52869729T>A	ENST00000601151.1	+	5	1421	c.969T>A	c.(967-969)caT>caA	p.H323Q	ZNF610_ENST00000327920.8_Missense_Mutation_p.H366Q|ZNF610_ENST00000403906.3_Missense_Mutation_p.H366Q|ZNF610_ENST00000321287.8_Missense_Mutation_p.H366Q	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAATAATTCATAGTACAGAGA	0.428000													19	49					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11592934	11592934	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11592934C>T	ENST00000262442.3	+	20	3863	c.3795C>T	c.(3793-3795)atC>atT	p.I1265I	DNAH9_ENST00000454412.2_Silent_p.I1265I	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1265	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCGAGATCCAGCAGATGG	0.498000													22	82					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179438979	179438979	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179438979G>A	ENST00000589042.1	-	326	72104	c.71880C>T	c.(71878-71880)atC>atT	p.I23960I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.I21392I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.I14895I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.I15020I|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.I15087I|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.I22319I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22319							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTCAACGATATAACTGG	0.413000													14	34					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457117	77457117	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77457117T>A	ENST00000451710.3	-	4	532	c.295A>T	c.(295-297)Aat>Tat	p.N99Y	TRPM6_ENST00000449912.2_Missense_Mutation_p.N94Y|TRPM6_ENST00000376872.3_Missense_Mutation_p.N99Y|TRPM6_ENST00000360774.1_Missense_Mutation_p.N99Y|TRPM6_ENST00000361255.3_Missense_Mutation_p.N94Y|TRPM6_ENST00000376871.3_Missense_Mutation_p.N99Y|TRPM6_ENST00000376864.4_Missense_Mutation_p.N99Y|TRPM6_ENST00000359047.2_Missense_Mutation_p.N99Y			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	99					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCTTGGAAATTAATCGTGCCA	0.403000													45	9					0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065102	62065102	+	Silent	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62065102A>T	ENST00000358585.1	-	2	137	c.84T>A	c.(82-84)gcT>gcA	p.A28A		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	28						extracellular region	binding			lung(1)|prostate(1)	2						TGATCTCAGAAGCAACAGCTG	0.448000													28	84					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117033355	117033355	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:117033355C>T	ENST00000371876.1	-	6	3752	c.1331G>A	c.(1330-1332)gGa>gAa	p.G444E	KLHL13_ENST00000541812.1_Missense_Mutation_p.G479E|KLHL13_ENST00000371878.1_Missense_Mutation_p.G444E|KLHL13_ENST00000540167.1_Missense_Mutation_p.G479E|KLHL13_ENST00000469946.1_Missense_Mutation_p.G444E|KLHL13_ENST00000539496.1_Missense_Mutation_p.G498E|KLHL13_ENST00000371882.1_Missense_Mutation_p.G444E|KLHL13_ENST00000262820.3_Missense_Mutation_p.G495E|KLHL13_ENST00000545703.1_Missense_Mutation_p.G453E			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	495					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ATGAGTAATTCCTCCTAAAGA	0.358000													89	12					0	0	1	0	0
PTGFR	5737	broad.mit.edu	37	1	79002193	79002193	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:79002193C>T	ENST00000370757.3	+	3	1138	c.901C>T	c.(901-903)Cct>Tct	p.P301S	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.P301S	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	301					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AATCTTAGATCCTTGGGTATA	0.393000													31	3					0	0	1	0	0
LINGO3	645191	broad.mit.edu	37	19	2291343	2291343	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2291343T>G	ENST00000585527.1	-	1	680	c.433A>C	c.(433-435)Act>Cct	p.T145P	LINGO3_ENST00000404279.1_Missense_Mutation_p.T145P			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	145						integral to membrane				lung(1)|urinary_tract(1)	2						TCCTGGAAAGTGTAGTCCAGC	0.647000													27	13					0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120946	12120946	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:12120946T>C	ENST00000379388.2	+	4	1250	c.918T>C	c.(916-918)ggT>ggC	p.G306G		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	306					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GGTGTTCAGGTTTCACAGGAT	0.413000													46	29					0	0	1	0	0
TERT	7015	broad.mit.edu	37	5	1254580	1254580	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:1254580G>A	ENST00000310581.5	-	15	3255	c.3198C>T	c.(3196-3198)ccC>ccT	p.P1066P	TERT_ENST00000334602.6_Silent_p.P1003P|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1066	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCCTCGGAGGGCAGAGGGC	0.667000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				33	16					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039723	36039723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:36039723C>T	ENST00000282507.3	-	5	1032	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K	UGT3A2_ENST00000513300.1_Missense_Mutation_p.E277K|UGT3A2_ENST00000545528.1_Missense_Mutation_p.E9K	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	311						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTGAAGATTTCCGGATTCTGA	0.493000													17	56					0	0	1	0	0
FAM46B	115572	broad.mit.edu	37	1	27333251	27333251	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:27333251G>A	ENST00000289166.5	-	2	627	c.462C>T	c.(460-462)ttC>ttT	p.F154F		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	154										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		CGGCCGGCAGGAAGTCTAGTA	0.612000													80	6					0	0	1	0	0
LINGO4	339398	broad.mit.edu	37	1	151773804	151773804	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151773804C>T	ENST00000368820.3	-	2	2314	c.1377G>A	c.(1375-1377)ggG>ggA	p.G459G		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	459	Ig-like C2-type.					integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTTACTCTCCCAGCCCTGC	0.612000													35	185					0	0	1	0	0
SUCLA2	8803	broad.mit.edu	37	13	48575367	48575367	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:48575367C>T	ENST00000378654.3	-	1	95	c.39G>A	c.(37-39)gtG>gtA	p.V13V	SUCLA2_ENST00000544100.1_5'UTR|SUCLA2_ENST00000543413.1_Intron|SUCLA2_ENST00000497202.1_5'UTR	NM_003850.2	NP_003841.1	Q9P2R7	SUCB1_HUMAN	succinate-CoA ligase, ADP-forming, beta subunit	13			V -> M (in dbSNP:rs35201084).		succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	GAAGGGTGGCCACGGCCACTA	0.697000													3	8					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21793478	21793478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21793478G>A	ENST00000206660.6	+	15	2303	c.2303G>A	c.(2302-2304)cGa>cAa	p.R768Q	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R730Q|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R768Q|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R127Q|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000553500.1_3'UTR			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	768					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGCAATAAACGAAAGAAAGCC	0.542000													4	14					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509044	228509044	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228509044G>A	ENST00000570156.2	+	66	17447		c.e66-1		OBSCN_ENST00000366709.4_Splice_Site|OBSCN_ENST00000284548.11_Splice_Site|OBSCN_ENST00000366707.4_Splice_Site|OBSCN_ENST00000422127.1_Splice_Site	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGTGCCCACAGGTTGGGGCCC	0.627000													20	13					0	0	1	0	0
FAM13C	220965	broad.mit.edu	37	10	61011339	61011339	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61011339C>T	ENST00000373867.3	-	14	1843	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	FAM13C_ENST00000442566.3_Missense_Mutation_p.G565R|FAM13C_ENST00000373868.2_Missense_Mutation_p.G544R|FAM13C_ENST00000468840.2_Missense_Mutation_p.G461R|FAM13C_ENST00000277705.6_Missense_Mutation_p.G564R|FAM13C_ENST00000419214.2_Missense_Mutation_p.G446R|FAM13C_ENST00000435852.2_Missense_Mutation_p.G544R	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	544										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACATACCTTCCTGTTTGTTTA	0.393000													33	141					0	0	1	0	0
ITFG2	55846	broad.mit.edu	37	12	2933306	2933306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2933306C>T	ENST00000228799.2	+	12	1430	c.1291C>T	c.(1291-1293)Cat>Tat	p.H431Y	ITFG2_ENST00000419778.2_Missense_Mutation_p.H254Y|ITFG2_ENST00000542548.1_Missense_Mutation_p.H319Y	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	431										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AACGCTCTACCATCCAGACCA	0.592000													19	83					0	0	1	0	0
GYPB	2994	broad.mit.edu	37	4	144918699	144918699	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:144918699C>T	ENST00000283126.7	-	4	319	c.264G>A	c.(262-264)ctG>ctA	p.L88L	GYPB_ENST00000513128.1_Silent_p.L55L|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000502664.1_Silent_p.L88L|GYPB_ENST00000429670.2_Silent_p.*63*|GYPB_ENST00000510196.2_5'UTR					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					TCACCTTTATCAGTCGGCGAA	0.368000													5	37					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	36242559	36242559	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:36242559G>A	ENST00000400445.3	+	57	9187	c.8653G>A	c.(8653-8655)Gta>Ata	p.V2885I	NBEA_ENST00000379939.2_Missense_Mutation_p.V2882I|NBEA_ENST00000537702.1_Missense_Mutation_p.V678I|NBEA_ENST00000310336.4_Missense_Mutation_p.V2885I|NBEA_ENST00000540320.1_Missense_Mutation_p.V2885I|NBEA_ENST00000379922.3_Missense_Mutation_p.V463I	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2885						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GGACAATGGGGTAGTAGAGGT	0.468000													5	17					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42294575	42294575	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:42294575G>A	ENST00000342228.3	-	8	1824	c.1455C>T	c.(1453-1455)ctC>ctT	p.L485L	SLC20A2_ENST00000520179.1_Silent_p.L485L|SLC20A2_ENST00000520262.1_Silent_p.L485L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	485					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AATGGAACAGGAGGTGAACCT	0.597000													8	38					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6937593	6937593	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6937593G>A	ENST00000312053.4	+	20	2626	c.2589G>A	c.(2587-2589)acG>acA	p.T863T	EMR1_ENST00000381407.5_Silent_p.T722T|EMR1_ENST00000250572.8_Silent_p.T798T|EMR1_ENST00000450315.3_Silent_p.T686T|EMR1_ENST00000381404.4_Silent_p.T844T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	863					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGGGAAGACGAAGCCCAGCT	0.557000													29	51					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51329192	51329192	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51329192C>T	ENST00000326856.4	-	6	757	c.628G>A	c.(628-630)Gga>Aga	p.G210R	KLK15_ENST00000301421.2_3'UTR|KLK15_ENST00000598239.1_Missense_Mutation_p.G211R|KLK15_ENST00000596931.1_3'UTR|KLK15_ENST00000416184.1_Missense_Mutation_p.G126R	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	211	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACCAGGGGTCCCCCAGAGTCA	0.557000													7	34					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476800	120476800	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:120476800G>A	ENST00000355622.6	+	3	2495	c.2394G>A	c.(2392-2394)gaG>gaA	p.E798E	TLR4_ENST00000394487.4_Silent_p.E758E|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	798	TIR.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGGAGTGGGAGGACAGTGTCC	0.542000													22	46					0	0	1	0	0
MYL10	93408	broad.mit.edu	37	7	101267529	101267529	+	Missense_Mutation	SNP	G	G	C	rs146674429	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:101267529G>C	ENST00000223167.4	-	2	271	c.94C>G	c.(94-96)Cgg>Ggg	p.R32G		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	32						mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GCTCTTTTCCGAGCTCTTCTC	0.617000													24	56					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124352569	124352569	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124352569G>A	ENST00000409039.3	+	42	7093	c.7068G>A	c.(7066-7068)gaG>gaA	p.E2356E		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2356					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCCTGCTTGAGGATGGAAGGA	0.498000													12	35					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283741	63283741	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63283741G>A	ENST00000415491.2	+	8	1318	c.704G>A	c.(703-705)gGa>gAa	p.G235E	LGALS12_ENST00000340246.5_Missense_Mutation_p.G297E|LGALS12_ENST00000425950.2_Missense_Mutation_p.G226E|LGALS12_ENST00000255684.5_Missense_Mutation_p.G287E|LGALS12_ENST00000394618.3_Missense_Mutation_p.G296E	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	296	Galectin 2.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TTCCAGGAGGGAGGGCTGAAG	0.632000													10	53					0	0	1	0	0
TMEM144	55314	broad.mit.edu	37	4	159154117	159154117	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:159154117C>T	ENST00000514558.1	+	6	2274	c.478C>T	c.(478-480)Cca>Tca	p.P160S	TMEM144_ENST00000296529.6_Missense_Mutation_p.P160S			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	160						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGATACCACTCCATTAATAAC	0.269000													6	36					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106173523	106173523	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106173523C>T	ENST00000390547.2	-	0	1043																											AGGTGCCGTCCACCTCCGCCA	0.637000													10	43					0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903689	5903689	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:5903689C>T	ENST00000378961.4	+	4	1103	c.899C>T	c.(898-900)cCc>cTc	p.P300L		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	300						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGGAGTCTTCCCTCTGAGGAA	0.587000													13	16					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10738439	10738439	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10738439C>T	ENST00000586078.1	+	3	237	c.128C>T	c.(127-129)gCc>gTc	p.A43V	SLC44A2_ENST00000335757.5_Missense_Mutation_p.A43V|SLC44A2_ENST00000407327.4_Missense_Mutation_p.A41V	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	43					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTGCTCCTGGCCATTGTGGGC	0.597000													28	67					0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5255069	5255069	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:5255069G>A	ENST00000380448.1	+	9	1046	c.793G>A	c.(793-795)Gtt>Att	p.V265I	AKR1C4_ENST00000263126.1_Missense_Mutation_p.V265I			P17516	AK1C4_HUMAN	aldo-keto reductase family 1, member C4	265					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	GCAGCGTGGGGTTGTGGTCCT	0.557000													31	42					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11461597C>T	ENST00000279575.1	-	3	353	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_ENST00000535904.1_Missense_Mutation_p.G107E|PRB4_ENST00000445719.2_Missense_Mutation_p.G107E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	149	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612000										HNSCC(22;0.051)			53	270					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193156317	193156317	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193156317G>A	ENST00000342695.4	-	23	2941	c.2619C>T	c.(2617-2619)gcC>gcT	p.A873A	ATP13A4_ENST00000392443.3_Silent_p.A854A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	873					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGAAAGGTGAGGCCACAGATG	0.448000													20	23					0	0	1	0	0
ZIC1	7545	broad.mit.edu	37	3	147130363	147130363	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:147130363C>G	ENST00000282928.4	+	2	1770	c.1041C>G	c.(1039-1041)agC>agG	p.S347R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	347					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CTAACAGCAGCGACCGCAAGA	0.532000													16	45					0	0	1	0	0
KDM4A	9682	broad.mit.edu	37	1	44149399	44149399	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:44149399C>T	ENST00000372396.3	+	12	1913	c.1779C>T	c.(1777-1779)tcC>tcT	p.S593S		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	593					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						ATAAGAAGTCCAAGGGACGCC	0.463000													16	25					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247597430	247597430	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247597430G>A	ENST00000366497.2	+	6	3133	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	NLRP3_ENST00000336119.3_Missense_Mutation_p.E785K|NLRP3_ENST00000366496.2_Missense_Mutation_p.E785K|NLRP3_ENST00000391827.2_Missense_Mutation_p.E728K|NLRP3_ENST00000391828.3_Missense_Mutation_p.E785K|NLRP3_ENST00000348069.2_Missense_Mutation_p.E728K	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	842					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCTCTCGCATGAGTGCTGCTT	0.557000													93	60					0	0	1	0	0
SLC23A2	9962	broad.mit.edu	37	20	4848512	4848512	+	Silent	SNP	G	G	A	rs72552221	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:4848512G>A	ENST00000379333.1	-	13	1652	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F	SLC23A2_ENST00000424750.2_Silent_p.F306F|SLC23A2_ENST00000338244.1_Silent_p.F420F	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	420				GIFVEGL -> YVPEKTS (in Ref. 10).	L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.F420F(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCTTCCACGAAAATTCCCC	0.403000													21	29					0	0	1	0	0
SNCG	6623	broad.mit.edu	37	10	88722411	88722411	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:88722411G>A	ENST00000372017.3	+	4	384	c.342G>A	c.(340-342)gaG>gaA	p.E114E	SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_3'UTR	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)	114						microtubule organizing center|perinuclear region of cytoplasm|spindle	protein binding			endometrium(1)|skin(1)	2						CATCCAAAGAGAAAGAGGAAG	0.607000													5	17					0	0	1	0	0
TSSK3	81629	broad.mit.edu	37	1	32828411	32828411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32828411G>A	ENST00000373534.3	+	1	614	c.109G>A	c.(109-111)Gca>Aca	p.A37T	FAM229A_ENST00000415596.1_Intron	NM_052841.3	NP_443073.1	Q96PN8	TSSK3_HUMAN	testis-specific serine kinase 3	37	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				AAGAAAAGTGGCAATTAAAGT	0.522000													45	68					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698526	103698526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:103698526G>A	ENST00000245312.3	-	6	1600	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	335					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CTTATAAAACGATGACTCTGG	0.373000													30	14					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204971857	204971857	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:204971857C>T	ENST00000367172.4	+	29	3919	c.3591C>T	c.(3589-3591)atC>atT	p.I1197I	NFASC_ENST00000367170.4_Silent_p.I1118I|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000401399.1_Silent_p.I1090I|NFASC_ENST00000367169.4_Intron|NFASC_ENST00000367171.4_Silent_p.I1182I|NFASC_ENST00000338586.6_Silent_p.I1074I|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000339876.6_Silent_p.I1090I|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000338515.6_Intron|NFASC_ENST00000404907.1_Intron			O94856	NFASC_HUMAN	neurofascin	1197	Fibronectin type-III 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GTACCGTCATCACCTTTATGA	0.562000													19	51					0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43933079	43933079	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43933079G>A	ENST00000537548.1	-	4	676	c.432C>T	c.(430-432)atC>atT	p.I144I	MATN4_ENST00000372754.1_Silent_p.I144I|MATN4_ENST00000353917.5_Silent_p.I144I|MATN4_ENST00000372753.1_Intron|MATN4_ENST00000372756.1_Silent_p.I144I|MATN4_ENST00000372751.4_Intron|MATN4_ENST00000360607.5_Silent_p.I144I|MATN4_ENST00000342716.4_Silent_p.I144I			O95460	MATN4_HUMAN	matrilin 4	144	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGTCTGTCACGATGACAGCGA	0.711000													3	10					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43414950	43414950	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43414950G>A	ENST00000187910.2	-	3	553	c.488C>T	c.(487-489)gCt>gTt	p.A163V	PSG6_ENST00000402603.4_Missense_Mutation_p.A163V|PSG6_ENST00000292125.2_Missense_Mutation_p.A163V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				TAAGCGCACAGCCTCCATGAC	0.542000													49	181					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24356821	24356821	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24356821G>A	ENST00000175238.6	+	17	1998	c.1915G>A	c.(1915-1917)Gaa>Aaa	p.E639K	RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.E639K|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.E411K|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	639	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E639K(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCAGTGCAATGAAAATCCTGT	0.343000													20	20					0	0	1	0	0
FOXI2	399823	broad.mit.edu	37	10	129537220	129537220	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129537220C>T	ENST00000388920.4	+	2	987	c.948C>T	c.(946-948)acC>acT	p.T316T		NM_207426.2	NP_997309.2	Q6ZQN5	FOXI2_HUMAN	forkhead box I2	316					epidermal cell fate specification|otic placode formation|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|lung(3)	4		all_epithelial(44;0.0021)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)				GGGAAGGGACCGAAGTTTGAA	0.682000													5	26					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31302310	31302310	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:31302310G>A	ENST00000265071.2	+	6	1169	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	CDH6_ENST00000514738.1_Missense_Mutation_p.E247K	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	302	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAAAATGCTGAAATTGAGTA	0.448000													45	12					0	0	1	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935490	155935490	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155935490G>A	ENST00000368316.1	-	9	791	c.321C>T	c.(319-321)ctC>ctT	p.L107L	ARHGEF2_ENST00000368315.3_Silent_p.L135L|ARHGEF2_ENST00000313695.7_Silent_p.L107L|ARHGEF2_ENST00000361247.4_Silent_p.L134L|ARHGEF2_ENST00000313667.4_Silent_p.L134L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2	134					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGGAGCCCAGGAGGGACTGCC	0.622000													9	57					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100058899	100058899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:100058899G>A	ENST00000258428.3	-	5	611	c.383C>T	c.(382-384)cCa>cTa	p.P128L	REV1_ENST00000393445.3_Missense_Mutation_p.P128L|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	128	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCTGATATGGAATGTAGGA	0.443000								Direct reversal of damage					30	22					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41812901	41812901	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:41812901G>A	ENST00000396930.3	-	10	2054	c.1511C>T	c.(1510-1512)cCa>cTa	p.P504L	KAT6A_ENST00000406337.1_Missense_Mutation_p.P504L|KAT6A_ENST00000265713.2_Missense_Mutation_p.P504L|KAT6A_ENST00000485568.1_Missense_Mutation_p.P504L	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	504	Catalytic.|Interaction with RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	p.P504L(1)									GCGGACTTGTGGATCAGGGGG	0.413000													6	62					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595303	36595303	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:36595303C>T	ENST00000299440.5	+	2	561	c.449C>T	c.(448-450)tCc>tTc	p.S150F		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	150	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AGAGCTACTTCCTGGCCGGAC	0.493000									Familial Hemophagocytic Lymphohistiocytosis				20	49					0	0	1	0	0
HIST1H2AE	3012	broad.mit.edu	37	6	26217281	26217281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26217281C>T	ENST00000303910.2	+	1	117	c.79C>T	c.(79-81)Cca>Tca	p.P27S		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	27					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				TCTTCAGTTTCCAGTTGGCCG	0.587000													12	53					0	0	1	0	0
PI16	221476	broad.mit.edu	37	6	36931130	36931130	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:36931130G>A	ENST00000373674.3	+	5	1340	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	338						extracellular region|integral to membrane	peptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAACTCTCTGGACCCCAAGAT	0.547000													13	52					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140772560	140772560	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140772560G>A	ENST00000398604.2	+	1	180	c.180G>A	c.(178-180)gcG>gcA	p.A60A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCTGGCGAAGCACGGAG	0.612000													9	38					0	0	1	0	0
FANCD2	2177	broad.mit.edu	37	3	10105572	10105572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:10105572G>A	ENST00000287647.3	+	21	2017	c.1924G>A	c.(1924-1926)Gaa>Aaa	p.E642K	FANCD2_ENST00000383807.1_Missense_Mutation_p.E642K|FANCD2_ENST00000419585.1_Missense_Mutation_p.E642K|FANCD2_ENST00000383806.1_Missense_Mutation_p.E642K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	642					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GATCCAACATGAAAAGCTGGA	0.443000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				4	51					0	0	1	0	0
AXL	558	broad.mit.edu	37	19	41754451	41754451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41754451G>A	ENST00000301178.4	+	13	1760	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	AXL_ENST00000593513.1_Missense_Mutation_p.E256K|AXL_ENST00000359092.3_Missense_Mutation_p.E515K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	524						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AGAGCTGAAGGAGAAGCTGCG	0.582000													10	54					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14834368	14834368	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:14834368C>T	ENST00000261170.3	-	5	791	c.655G>A	c.(655-657)Gaa>Aaa	p.E219K	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	219					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.E219K(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AAGCCGAGTTCGTGGGAGAAA	0.413000													10	53					0	0	1	0	0
PAX1	5075	broad.mit.edu	37	20	21689273	21689273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:21689273C>T	ENST00000398485.2	+	3	1048	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	PAX1_ENST00000444366.2_Missense_Mutation_p.P308S|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	332					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CACGGCCTTCCCCGCCACCCC	0.602000													30	81					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177041242	177041242	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:177041242C>T	ENST00000393643.2	+	4	784	c.532C>T	c.(532-534)Cat>Tat	p.H178Y	WDR17_ENST00000280190.4_Missense_Mutation_p.H202Y|WDR17_ENST00000508596.1_Missense_Mutation_p.H178Y|WDR17_ENST00000507824.2_Missense_Mutation_p.H202Y	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	202										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		ATCAATTTTTCATCCAGGTAA	0.338000													15	86					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50119875	50119875	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:50119875C>T	ENST00000376025.2	-	0	3212							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCTTGAATTTCAGTATGCTTG	0.483000													4	11					0	0	1	0	0
KLF13	51621	broad.mit.edu	37	15	31664399	31664399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:31664399G>A	ENST00000307145.3	+	2	1122	c.764G>A	c.(763-765)gGa>gAa	p.G255E	KLF13_ENST00000560473.1_Missense_Mutation_p.G67E	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	255					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		TTCCACCCGGGAATGCTGCAG	0.711000													14	22					0	0	1	0	0
AOAH	313	broad.mit.edu	37	7	36580012	36580012	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:36580012G>A	ENST00000431169.1	-	16	1519	c.1219C>T	c.(1219-1221)Ctg>Ttg	p.L407L	AOAH_ENST00000535891.1_Silent_p.L375L|AOAH_ENST00000538464.1_Silent_p.L129L|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000258749.5_Silent_p.L407L	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	407					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						CCATTGGGCAGGTGGGAATTT	0.458000													22	70					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159410433	159410433	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159410433G>A	ENST00000423932.3	+	1	922	c.885G>A	c.(883-885)ctG>ctA	p.L295L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	295					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CTCCCCTACTGAACCCTGTGG	0.507000													42	57					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11833315	11833315	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11833315C>T	ENST00000262442.3	+	63	12078	c.12010C>T	c.(12010-12012)Ccc>Tcc	p.P4004S	DNAH9_ENST00000454412.2_Intron|DNAH9_ENST00000396001.2_Missense_Mutation_p.P316S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4004	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACATCATCCCCCAGGGCAT	0.587000													5	30					0	0	1	0	0
RDH14	57665	broad.mit.edu	37	2	18736667	18736667	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:18736667G>A	ENST00000381249.3	-	2	908	c.801C>T	c.(799-801)ctC>ctT	p.L267L	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					CCAAATTGAAGAGTGGTTTGA	0.458000													37	189					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33635751	33635751	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:33635751G>A	ENST00000380099.3	+	4	2543	c.2535G>A	c.(2533-2535)gtG>gtA	p.V845V	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	845	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CCAGTCAGGTGGCGGTAGTGC	0.483000													19	44					0	0	1	0	0
GPX5	2880	broad.mit.edu	37	6	28499606	28499606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:28499606G>A	ENST00000412168.2	+	3	382	c.293G>A	c.(292-294)gGc>gAc	p.G98D	GPX5_ENST00000469384.1_Intron|GPX5_ENST00000442674.2_3'UTR	NM_001509.2	NP_001500.1	O75715	GPX5_HUMAN	glutathione peroxidase 5 (epididymal androgen-related protein)	98					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	GTTGTGTTGGGCTTTCCCTGC	0.473000													56	234					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124409699	124409699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124409699G>A	ENST00000409039.3	+	67	11540	c.11515G>A	c.(11515-11517)Gat>Aat	p.D3839N	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3839					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTCCGTGTGGATCGGGTCTA	0.488000													28	29					0	0	1	0	0
N4BP3	23138	broad.mit.edu	37	5	177548666	177548666	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:177548666C>T	ENST00000274605.5	+	5	1658	c.1299C>T	c.(1297-1299)gcC>gcT	p.A433A		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	433						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGCAGGCCCCTCGGGAGG	0.677000													39	15					0	0	1	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552411	21552411	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:21552411T>C	ENST00000281523.2	-	4	899	c.381A>G	c.(379-381)gcA>gcG	p.A127A	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	127						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGGTAGTCTTTGCGCTGTCCT	0.468000													66	24					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184064779	184064779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184064779C>T	ENST00000265593.4	-	23	2617	c.2446G>A	c.(2446-2448)Gac>Aac	p.D816N	EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.D799N|CLCN2_ENST00000434054.2_Missense_Mutation_p.D772N	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	816	CBS 2.					chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TAAGCATGGTCCACTCCCAGC	0.512000													37	125					0	0	1	0	0
AMY2A	279	broad.mit.edu	37	1	104160224	104160224	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:104160224G>A	ENST00000414303.2	+	1	226	c.162G>A	c.(160-162)ggG>ggA	p.G54G		NM_000699.2	NP_000690.1	P04746	AMYP_HUMAN	amylase, alpha 2A (pancreatic)	54					carbohydrate catabolic process|polysaccharide digestion	extracellular space	alpha-amylase activity|calcium ion binding|chloride ion binding			endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111)	Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085)	GATTTGGAGGGGTTCAGGTGG	0.413000													113	23					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124219548	124219548	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:124219548C>T	ENST00000518448.1	+	5	2939	c.925C>T	c.(925-927)Ccg>Tcg	p.P309S	FAM83A_ENST00000276699.6_Missense_Mutation_p.P309S|FAM83A_ENST00000546351.1_Missense_Mutation_p.P253S|FAM83A_ENST00000318462.6_Missense_Mutation_p.P309S|FAM83A_ENST00000536633.1_Missense_Mutation_p.P309S|FAM83A_ENST00000522648.1_Missense_Mutation_p.P253S			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	309										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGCCCCCGTCCCGCCCGGAGC	0.706000													5	10					0	0	1	0	0
STMN4	81551	broad.mit.edu	37	8	27098618	27098618	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:27098618G>A	ENST00000350889.4	-	5	465	c.352C>T	c.(352-354)Ctg>Ttg	p.L118L	STMN4_ENST00000519997.1_Silent_p.L82L|STMN4_ENST00000265770.7_Silent_p.L91L|STMN4_ENST00000522908.1_Silent_p.L118L|STMN4_ENST00000519614.1_Silent_p.L91L|STMN4_ENST00000523048.1_Silent_p.L118L	NM_030795.2	NP_110422.2	Q9H169	STMN4_HUMAN	stathmin-like 4	91					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		ATCTCTTCCAGGGATGGGTCT	0.562000													35	43					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85051084	85051084	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:85051084C>A	ENST00000335459.5	-	5	1385	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Nonsense_Mutation_p.E443*	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		GACCTCTCCTCCAGGCGGACC	0.647000													6	13					0.0293803	0.0294072	1	1	0
OR5J2	282775	broad.mit.edu	37	11	55944167	55944167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55944167C>T	ENST00000312298.1	+	1	74	c.74C>T	c.(73-75)gCt>gTt	p.A25V		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GAACTAAAAGCTGTGCTTTTT	0.388000													57	75					0	0	1	0	0
GPRIN2	9721	broad.mit.edu	37	10	46999883	46999883	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:46999883G>A	ENST00000374314.4	+	1	1958	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A335T			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	335										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGCCCAGGATGCTGGTGTGCA	0.632000													24	61					0	0	1	0	0
BCL2	596	broad.mit.edu	37	18	60985613	60985613	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:60985613G>A	ENST00000398117.1	-	1	1748	c.287C>T	c.(286-288)aCc>aTc	p.T96I	BCL2_ENST00000333681.4_Missense_Mutation_p.T96I|BCL2_ENST00000589955.1_Missense_Mutation_p.T96I|BCL2_ENST00000444484.1_Missense_Mutation_p.T96I	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	96				T -> A (in Ref. 8; AAD14111).	activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CTGGCGGAGGGTCAGGTGGAC	0.771000			T	IGH@	"""NHL, CLL"""								10	12					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134051017	134051017	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134051017G>A	ENST00000534548.2	-	20	2578	c.2514C>T	c.(2512-2514)atC>atT	p.I838I	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	838					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCTTGAGAACGATGTTGGAGA	0.507000													11	11					0	0	1	0	0
NPHS2	7827	broad.mit.edu	37	1	179533844	179533844	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179533844G>A	ENST00000367615.4	-	2	427	c.359C>T	c.(358-360)tCc>tTc	p.S120F	NPHS2_ENST00000367616.4_Missense_Mutation_p.S120F	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	120					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GAACCAGATGGAAAAAGGGAA	0.463000													35	25					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33235333	33235333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:33235333C>T	ENST00000401073.2	+	5	716	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	KIAA1522_ENST00000373480.1_Missense_Mutation_p.R157W|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R168W|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	157										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCGGCGTCGGCGGGAGCGGCG	0.627000													6	13					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738474	135738474	+	Silent	SNP	G	G	A	rs149473090		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135738474G>A	ENST00000375845.3	-	9	3867	c.3837C>T	c.(3835-3837)atC>atT	p.I1279I	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000392918.3_Silent_p.I413I|MAP3K19_ENST00000392917.3_Silent_p.I411I|MAP3K19_ENST00000358371.4_Silent_p.I1166I|MAP3K19_ENST00000315513.3_Silent_p.I140I|MAP3K19_ENST00000375844.3_Silent_p.I461I	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		GGTGTGCTCCGATGTAAAACA	0.507000													9	24					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891712	18891712	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18891712G>A	ENST00000317658.3	+	1	668	c.510G>A	c.(508-510)tgG>tgA	p.W170*		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	170					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACGGACTTTGGAAATCTAAAT	0.388000													21	22					0	0	1	0	0
OR1D2	4991	broad.mit.edu	37	17	2995836	2995836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2995836G>A	ENST00000331459.1	-	1	454	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	152					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATAGAGGACGGATAGGACCCA	0.507000													10	56					0	0	1	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74212452	74212452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:74212452G>A	ENST00000405086.2	-	16	1588	c.1399C>T	c.(1399-1401)Caa>Taa	p.Q467*	GTF2IRD2_ENST00000451013.2_Nonsense_Mutation_p.Q14*	NM_173537.2	NP_775808.2	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tgattggtttgatagtggcgt	0.413000													39	161					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133078628	133078628	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:133078628C>T	ENST00000326499.6	-	2	395	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	VNN2_ENST00000525270.1_Missense_Mutation_p.E38K|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525289.1_Missense_Mutation_p.E91K	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	91	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AAAACAGTTTCCCTGGTAAAT	0.403000													16	17					0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20177792	20177792	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20177792C>T	ENST00000524983.2	-	4	1288	c.1000G>A	c.(1000-1002)Ggc>Agc	p.G334S	DBX1_ENST00000227256.3_Missense_Mutation_p.G373S			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	334	Poly-Glu.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						TGTTCCTCGCCCTCCTCTTCC	0.622000													57	170					0	0	1	0	0
MAP7D2	256714	broad.mit.edu	37	X	20081557	20081557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:20081557C>T	ENST00000379651.3	-	3	365	c.347G>A	c.(346-348)aGg>aAg	p.R116K	MAP7D2_ENST00000452324.3_Missense_Mutation_p.R72K|MAP7D2_ENST00000443379.3_Missense_Mutation_p.R116K|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R116K	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	116										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CTTCTGTTTCCTTTTCTCTTC	0.612000													6	18					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	382482	382482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:382482C>T	ENST00000256509.2	+	6	1033	c.391C>T	c.(391-393)Cca>Tca	p.P131S	CHL1_ENST00000397491.2_Missense_Mutation_p.P131S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	131	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACCAGGTGTTCCAAAATTCCC	0.338000													4	26					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32836468	32836468	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:32836468C>T	ENST00000380250.3	+	53	8131	c.7635C>T	c.(7633-7635)ccC>ccT	p.P2545P		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2545					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTCTCTCCCCCTCTGAAGAGA	0.423000													9	22					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404885	179404885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179404885C>T	ENST00000589042.1	-	351	98232	c.98008G>A	c.(98008-98010)Gaa>Aaa	p.E32670K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E30102K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23605K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23730K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23797K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E31029K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31029	Ig-like 144.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTGTATTCTGCACCCTGA	0.463000													116	60					0	0	1	0	0
FAM111A	63901	broad.mit.edu	37	11	58920891	58920891	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58920891G>A	ENST00000528737.1	+	5	4568	c.1750G>A	c.(1750-1752)Gat>Aat	p.D584N	FAM111A_ENST00000533703.1_Missense_Mutation_p.D584N|FAM111A_ENST00000361723.3_Missense_Mutation_p.D584N|FAM111A_ENST00000531147.1_Missense_Mutation_p.D584N|FAM111A_ENST00000420244.1_Missense_Mutation_p.D584N			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	584					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				CATCCTCCTTGATATTAAGCA	0.393000													28	95					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995859	140995859	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140995859C>T	ENST00000285879.4	+	4	2955	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	890							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGTGATTCCTTGACAGAC	0.478000										HNSCC(15;0.026)			109	83					0	0	1	0	0
PIGR	5284	broad.mit.edu	37	1	207110999	207110999	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:207110999C>T	ENST00000356495.4	-	4	669	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	162	Ig-like V-type 2.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAAGGACTTCCTCTTTTGAG	0.478000													18	21					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56202459	56202459	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56202459C>T	ENST00000361673.3	-	5	5173	c.4960G>A	c.(4960-4962)Gca>Aca	p.A1654T		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1654							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAAATAAATGCCAAGGTCTTC	0.468000													26	31					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861922	94861922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:94861922C>T	ENST00000278505.4	+	2	800	c.682C>T	c.(682-684)Cct>Tct	p.P228S		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	228						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TTGTGCTGTCCCTGGAGGAGG	0.493000													12	25					0	0	1	0	0
SFRP4	6424	broad.mit.edu	37	7	37951818	37951818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:37951818G>A	ENST00000436072.2	-	4	1071	c.694C>T	c.(694-696)Cga>Tga	p.R232*	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	232	NTR.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						ACTTGAGTTCGAGGGATGGGT	0.473000													23	150					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56182252	56182252	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:56182252G>A	ENST00000361673.3	-	10	6215	c.6002C>T	c.(6001-6003)cCt>cTt	p.P2001L		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2001	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GCCTTCCAGAGGCTGTGCTTC	0.478000													13	16					0	0	1	0	0
CRB2	286204	broad.mit.edu	37	9	126132959	126132959	+	Missense_Mutation	SNP	C	C	T	rs146158114		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:126132959C>T	ENST00000373631.3	+	7	1628	c.1627C>T	c.(1627-1629)Cgg>Tgg	p.R543W	CRB2_ENST00000359999.3_Missense_Mutation_p.R543W|CRB2_ENST00000373629.2_Missense_Mutation_p.R211W	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	543	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGCCCTGCCCGGCTCTGTGT	0.672000													43	3					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70918266	70918266	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70918266G>A	ENST00000334414.6	-	33	6654	c.6610C>T	c.(6610-6612)Cca>Tca	p.P2204S	RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000549359.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1896S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1896S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1986S|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1896S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P2116S|RP11-588H23.3_ENST00000547656.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1986					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATACTCTGGATTCACATTT	0.428000													10	12					0	0	1	0	0
DSTYK	25778	broad.mit.edu	37	1	205129295	205129295	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205129295G>A	ENST00000367162.3	-	8	2082	c.2052C>T	c.(2050-2052)gtC>gtT	p.V684V	DSTYK_ENST00000367161.3_Silent_p.V684V|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	684	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CATCTGGAGGGACAACTGATT	0.498000													68	126					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29994069	29994069	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:29994069C>T	ENST00000308893.4	+	11	1889	c.846C>T	c.(844-846)ctC>ctT	p.L282L	TAOK2_ENST00000279394.3_Silent_p.L282L|TAOK2_ENST00000543033.1_Silent_p.L282L|TAOK2_ENST00000416441.2_Silent_p.L109L	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	282					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTTTGTGCTCCGGGAGCGGC	0.622000													32	31					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41039557	41039557	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41039557C>T	ENST00000399564.4	-	20	2504	c.2054G>A	c.(2053-2055)cGa>cAa	p.R685Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.R240Q	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		TACCTTACATCGATTCATGAA	0.323000													3	13					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124323028	124323028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124323028C>T	ENST00000409039.3	+	28	4599	c.4574C>T	c.(4573-4575)cCc>cTc	p.P1525L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1525	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTAAAAGACCCCGTGATCAAG	0.547000													12	22					0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27015690	27015690	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:27015690G>A	ENST00000335756.4	+	3	477	c.277G>A	c.(277-279)Gcc>Acc	p.A93T	CENPA_ENST00000475662.1_Intron|CENPA_ENST00000233505.8_Intron	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	93	CATD.|H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCCTATTGGCCCTACAAGA	0.517000													14	75					0	0	1	0	0
JAKMIP3	282973	broad.mit.edu	37	10	133967467	133967467	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:133967467G>A	ENST00000298622.4	+	18	2325	c.2187G>A	c.(2185-2187)cgG>cgA	p.R729R	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGACTACCGGAAACAGGCCT	0.627000													13	48					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55264217	55264217	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55264217C>T	ENST00000340465.2	+	8	1185	c.1099C>T	c.(1099-1101)Ctg>Ttg	p.L367L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	367						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGGAATCCTTCTGTTGGTTAT	0.378000													9	31					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37729769	37729769	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:37729769C>T	ENST00000539465.1	+	8	1250	c.657C>T	c.(655-657)atC>atT	p.I219I	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Silent_p.I41I|FRMPD1_ENST00000377765.3_Silent_p.I219I|FRMPD1_ENST00000541302.1_Silent_p.I88I			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	219	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCCGAAGTATCGAGTACTTTG	0.567000													63	13					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528836	20528836	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20528836C>T	ENST00000315683.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACCTGTTTCATCCTCTTGC	0.453000													21	115					0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29497982	29497982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:29497982G>A	ENST00000389048.3	-	11	2930	c.2024C>T	c.(2023-2025)cCc>cTc	p.P675L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	675					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GTCAAAGATGGGGGTCTGTCT	0.463000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				100	22					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79842834	79842834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:79842834G>A	ENST00000261205.4	+	11	1856	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Missense_Mutation_p.R400Q|SYT1_ENST00000457153.2_Missense_Mutation_p.R397Q|SYT1_ENST00000552744.1_Missense_Mutation_p.R400Q	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	400					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AACCCCAGGCGACCTATTGCC	0.557000													29	23					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124049455	124049455	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124049455C>T	ENST00000368994.2	+	6	671	c.420C>T	c.(418-420)tcC>tcT	p.S140S	BTBD16_ENST00000260723.4_Silent_p.S139S			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	139										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AAGAAAAATCCCCTGCAAAGA	0.433000													17	94					0	0	1	0	0
DUSP13	51207	broad.mit.edu	37	10	76857622	76857622	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:76857622C>T	ENST00000491677.2	-	6	950	c.408G>A	c.(406-408)caG>caA	p.Q136Q	DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000464872.1_Silent_p.Q7Q|DUSP13_ENST00000372700.3_Silent_p.Q57Q|DUSP13_ENST00000478873.2_Silent_p.Q143Q|DUSP13_ENST00000472493.2_Silent_p.Q7Q|DUSP13_ENST00000605915.1_Silent_p.Q29Q|DUSP13_ENST00000607131.1_Silent_p.Q100Q|DUSP13_ENST00000372702.3_3'UTR	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TCCGGAGGTCCTGCTTCTGCA	0.642000													7	20					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102375206	102375206	+	Missense_Mutation	SNP	G	G	A	rs146611222		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:102375206G>A	ENST00000376131.4	-	5	829	c.734C>T	c.(733-735)cCa>cTa	p.P245L	ITGBL1_ENST00000415285.1_Intron|FGF14_ENST00000376143.4_Missense_Mutation_p.P240L	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	240					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTGTTGACTGGTTTGCCTCC	0.483000													9	23					0	0	1	0	0
LRRC2	79442	broad.mit.edu	37	3	46574278	46574278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46574278C>T	ENST00000395905.3	-	5	1004	c.612G>A	c.(610-612)atG>atA	p.M204I	LRRC2_ENST00000296144.3_Missense_Mutation_p.M204I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	204										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		AGGGCAGCTCCATTAATTCTA	0.348000													12	58					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23523165	23523165	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23523165C>T	ENST00000305877.8	+	1	769	c.18C>T	c.(16-18)ggC>ggT	p.G6G	BCR_ENST00000359540.3_Silent_p.G6G|BCR_ENST00000398512.5_Silent_p.G6G	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	6	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ACCCGGTGGGCTTCGCGGAGG	0.771000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								10	12					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120906827	120906827	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:120906827C>T	ENST00000310396.5	+	20	3065	c.2598C>T	c.(2596-2598)tcC>tcT	p.S866S		NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		GGCTTAATTCCAATCACCTGC	0.368000													17	53					0	0	1	0	0
NR1I2	8856	broad.mit.edu	37	3	119526231	119526231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:119526231G>A	ENST00000393716.2	+	2	1973	c.134G>A	c.(133-135)gGg>gAg	p.G45E	NR1I2_ENST00000337940.4_Missense_Mutation_p.G84E|NR1I2_ENST00000466380.1_Missense_Mutation_p.G45E	NM_003889.3	NP_003880.3	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	45					drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	CGTGTATGTGGGGACAAGGCC	0.522000													20	79					0	0	1	0	0
TMEM98	26022	broad.mit.edu	37	17	31260281	31260281	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:31260281T>A	ENST00000579849.1	+	4	652	c.221T>A	c.(220-222)aTt>aAt	p.I74N	TMEM98_ENST00000394642.3_Missense_Mutation_p.I74N|TMEM98_ENST00000578289.1_Missense_Mutation_p.I74N	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	74						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			AACCCCCACATTGAGGCCATT	0.522000													21	124					0	0	1	0	0
FABP1	2168	broad.mit.edu	37	2	88425751	88425751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:88425751C>T	ENST00000393750.3	-	2	215	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E62K			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	62					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						ACCGTGAATTCGTTTTGGATC	0.517000													53	132					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179407982	179407982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179407982C>T	ENST00000589042.1	-	347	96942	c.96718G>A	c.(96718-96720)Gag>Aag	p.E32240K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E29672K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23175K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23300K|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23367K|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E30599K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30599	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCAGGCCTCGAGAACATAT	0.473000													69	40					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3241590	3241590	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:3241590C>T	ENST00000217939.6	-	5	2290	c.2136G>A	c.(2134-2136)agG>agA	p.R712R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	712						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCAGAAGTCTCCTTGAAGTGT	0.502000													36	1					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128775341	128775341	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128775341G>A	ENST00000357702.5	-	3	470	c.339C>T	c.(337-339)gtC>gtT	p.V113V	SAP130_ENST00000259234.6_Silent_p.V87V|SAP130_ENST00000259235.3_Silent_p.V113V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	113					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGGCTGATGCGACAGCATGGT	0.572000													30	57					0	0	1	0	0
PLA2G4D	283748	broad.mit.edu	37	15	42371884	42371884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42371884C>T	ENST00000290472.3	-	13	1262	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	390	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GCCAGGTGCTCCCGGGCGTAT	0.652000													28	35					0	0	1	0	0
ZNF573	126231	broad.mit.edu	37	19	38229711	38229711	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38229711C>T	ENST00000339503.4	-	8	2007	c.1506G>A	c.(1504-1506)ggG>ggA	p.G502G	ZNF573_ENST00000357309.3_Silent_p.G472G|ZNF573_ENST00000392138.1_Silent_p.G473G|ZNF573_ENST00000536220.1_Silent_p.G472G|ZNF573_ENST00000590414.2_Silent_p.G560G	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAAAGGTCTTCCCACATTCCT	0.338000													9	41					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10411972	10411972	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10411972G>A	ENST00000226207.5	-	16	1699	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	535	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCCAGGATGGAGAAGATGC	0.393000													53	26					0	0	1	0	0
ASAP2	8853	broad.mit.edu	37	2	9541476	9541476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:9541476C>T	ENST00000281419.3	+	27	3237	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	ASAP2_ENST00000315273.4_Missense_Mutation_p.S921F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	966	SH3.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CTCACCTTCTCCGAGGGGGAT	0.602000													15	71					0	0	1	0	0
TLDC2	140711	broad.mit.edu	37	20	35504603	35504603	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35504603C>T	ENST00000217320.3	+	1	70	c.26C>T	c.(25-27)aCt>aTt	p.T9I	TLDC2_ENST00000602922.1_Missense_Mutation_p.T9I	NM_080628.1	NP_542195.1			TBC/LysM-associated domain containing 2																		TGGCGTTACACTCGGCTGGTA	0.632000													27	82					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374271	163374271	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163374271C>T	ENST00000332142.5	-	4	960	c.861G>A	c.(859-861)aaG>aaA	p.K287K	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.K287K	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	287					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)	TAAATATGTTCTTGGGGTGGA	0.383000													13	32					0	0	1	0	0
NUP35	129401	broad.mit.edu	37	2	183995214	183995214	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:183995214A>G	ENST00000295119.4	+	3	383	c.280A>G	c.(280-282)Ata>Gta	p.I94V	NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000409798.1_Missense_Mutation_p.I77V|NUP35_ENST00000497330.1_3'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	94					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						AGTTAGAAGTATATATGATGA	0.378000													24	59					0	0	1	0	0
GH1	2688	broad.mit.edu	37	17	61995446	61995446	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:61995446G>A	ENST00000323322.5	-	3	264	c.222C>T	c.(220-222)ccC>ccT	p.P74P	CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Intron|GH1_ENST00000342364.4_Intron|GH1_ENST00000458650.2_Silent_p.P59P	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	74					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GGGAGGTCTGGGGGTTCTGCA	0.537000													98	158					0	0	1	0	0
TRBV5-1	28614	broad.mit.edu	37	7	142021070	142021070	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142021070G>A	ENST00000390381.3	+	0	359																											TTTCCCACAGGCCCAGTAAAG	0.537000													5	21					0	0	1	0	0
CDH17	1015	broad.mit.edu	37	8	95186195	95186195	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95186195G>A	ENST00000027335.3	-	7	737	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.P205S	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	205	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTATAGGAAGGATTCTTAGCA	0.438000													11	43					0	0	1	0	0
WSCD1	23302	broad.mit.edu	37	17	5984158	5984158	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:5984158G>A	ENST00000574946.1	+	2	570	c.180G>A	c.(178-180)gtG>gtA	p.V60V	WSCD1_ENST00000317744.5_Silent_p.V60V|WSCD1_ENST00000573634.1_Intron|WSCD1_ENST00000539421.1_Silent_p.V60V|WSCD1_ENST00000574232.1_Silent_p.V60V			Q658N2	WSCD1_HUMAN	WSC domain containing 1	60						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TGGCCGCCGTGGCGCTGGGCG	0.721000													15	2					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287916	62287916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62287916G>A	ENST00000378024.4	-	5	14247	c.13973C>T	c.(13972-13974)cCc>cTc	p.P4658L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4658					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCTGAACTTGGGCATTTTCAC	0.522000													74	252					0	0	1	0	0
ZNF711	7552	broad.mit.edu	37	X	84526400	84526400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:84526400C>T	ENST00000360700.4	+	10	2876	c.1990C>T	c.(1990-1992)Cct>Tct	p.P664S	ZNF711_ENST00000542798.1_Missense_Mutation_p.P460S|ZNF711_ENST00000395402.1_Missense_Mutation_p.P626S|ZNF711_ENST00000276123.3_Missense_Mutation_p.P618S|ZNF711_ENST00000373165.3_Missense_Mutation_p.P618S			Q9Y462	ZN711_HUMAN	zinc finger protein 711	618					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TAAGGATTTTCCTCACAAATG	0.423000													9	6					0	0	1	0	0
ZNF534	147658	broad.mit.edu	37	19	52941580	52941580	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52941580G>A	ENST00000332323.6	+	4	967	c.906G>A	c.(904-906)agG>agA	p.R302R	ZNF534_ENST00000432303.2_Intron|ZNF534_ENST00000433050.1_Silent_p.R289R|ZNF534_ENST00000301085.4_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACAGCATAGGAAAATTCATA	0.398000													6	22					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152285778	152285778	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152285778C>T	ENST00000368799.1	-	3	1619	c.1584G>A	c.(1582-1584)caG>caA	p.Q528Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	528	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGGGATCCCTGCCTTCCTC	0.602000									Ichthyosis				229	386					0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48238844	48238844	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48238844C>T	ENST00000309562.2	+	1	501	c.483C>T	c.(481-483)atC>atT	p.I161I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TTCTCGTTATCATCCAATTGC	0.473000													15	80					0	0	1	0	0
KCNE1	3753	broad.mit.edu	37	21	35821767	35821767	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:35821767A>G	ENST00000337385.3	-	3	541	c.166T>C	c.(166-168)Ttc>Ctc	p.F56L	KCNE1_ENST00000399286.2_Missense_Mutation_p.F56L|KCNE1_ENST00000432085.1_Missense_Mutation_p.F56L|KCNE1_ENST00000399289.3_Missense_Mutation_p.F56L|KCNE1_ENST00000399284.1_Missense_Mutation_p.F56L|KCNE1_ENST00000416357.2_Missense_Mutation_p.F56L	NM_001270402.1|NM_001270403.1	NP_001257331.1|NP_001257332.1	P15382	KCNE1_HUMAN	potassium voltage-gated channel, Isk-related family, member 1	56					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	AGGGTGAAGAAGCCGAAGAAT	0.607000													193	294					0	0	1	0	0
CTRB2	440387	broad.mit.edu	37	16	75238062	75238062	+	Missense_Mutation	SNP	G	G	T	rs34824152		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:75238062G>T	ENST00000303037.8	-	7	832	c.789C>A	c.(787-789)aaC>aaA	p.N263K		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	263					digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						TGCGGGCTCAGTTGGCGGCCA	0.607000													30	8					6.50621e-10	6.54934e-10	1	1	0
FAM150A	389658	broad.mit.edu	37	8	53452456	53452456	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:53452456G>A	ENST00000358543.4	-	3	510	c.260C>T	c.(259-261)tCa>tTa	p.S87L	FAM150A_ENST00000523939.1_Missense_Mutation_p.S87L	NM_207413.3	NP_997296.1	Q6UXT8	F150A_HUMAN	family with sequence similarity 150, member A	87						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GCATTCTGGTGAAAATGTGAC	0.383000													30	33					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89585971	89585971	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:89585971C>T	ENST00000370466.3	-	4	587	c.318_splice	c.e4-1	p.G107_splice		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	107					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		TCATTGTCACCCTGTAAGTCA	0.458000													13	17					0	0	1	0	0
AFM	173	broad.mit.edu	37	4	74352708	74352708	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:74352708G>A	ENST00000226355.3	+	5	600	c.507G>A	c.(505-507)agG>agA	p.R169R		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	169	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCCAGAAGGAACCCATTTG	0.403000													15	75					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124315152	124315152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124315152C>T	ENST00000409039.3	+	25	4122	c.4097C>T	c.(4096-4098)aCc>aTc	p.T1366I		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1366	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GAAACGTTCACCTTGGAAAAT	0.383000													21	30					0	0	1	0	0
CLDN4	1364	broad.mit.edu	37	7	73245952	73245952	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:73245952C>T	ENST00000435050.1	+	2	3101	c.421C>T	c.(421-423)Cac>Tac	p.H141Y	CLDN4_ENST00000340958.2_Missense_Mutation_p.H141Y|CLDN4_ENST00000431918.1_Missense_Mutation_p.H141Y			O14493	CLD4_HUMAN	claudin 4	141					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				CTGGACGGCCCACAACATCAT	0.637000													35	24					0	0	1	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47548115	47548115	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:47548115G>A	ENST00000334194.3	+	4	477	c.474G>A	c.(472-474)gaG>gaA	p.E158E		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	158						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TGATGTCTGAGAGTGTTCGGA	0.483000													11	26					0	0	1	0	0
JAM2	58494	broad.mit.edu	37	21	27071148	27071148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:27071148G>A	ENST00000480456.1	+	5	1104	c.554G>A	c.(553-555)aGc>aAc	p.S185N	JAM2_ENST00000425221.2_Missense_Mutation_p.S149N|JAM2_ENST00000400532.1_Missense_Mutation_p.S185N|JAM2_ENST00000312957.5_Missense_Mutation_p.S185N	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	185	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GGCTCCCAAAGCACCAACAGC	0.398000													9	29					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234565060	234565060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:234565060G>A	ENST00000040877.1	-	17	2881	c.2882C>T	c.(2881-2883)tCc>tTc	p.S961F		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	961					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	p.S961F(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TGATTCAGAGGAAGTCAGAAG	0.338000													6	77					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	648658	648658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:648658G>A	ENST00000255622.6	+	6	1016	c.973G>A	c.(973-975)Gag>Aag	p.E325K	PDE6B_ENST00000496514.1_Missense_Mutation_p.E325K|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.E46K|RP11-1191J2.2_ENST00000489312.1_RNA	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	325	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCACGGCAAGGAGGAGATCAA	0.612000													37	9					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44191960	44191960	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44191960C>T	ENST00000403799.3	-	3	742	c.273G>A	c.(271-273)gtG>gtA	p.V91V	GCK_ENST00000437084.1_Silent_p.V91V|GCK_ENST00000395796.3_Silent_p.V90V|GCK_ENST00000345378.2_Silent_p.V92V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	91					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						CACCTTCTCCCACCTTCACCA	0.587000													250	629					0	0	1	0	0
OTUD5	55593	broad.mit.edu	37	X	48791869	48791869	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:48791869G>A	ENST00000156084.4	-	5	1002	c.942C>T	c.(940-942)ttC>ttT	p.F314F	OTUD5_ENST00000484499.1_5'UTR|OTUD5_ENST00000376488.3_Silent_p.F309F|OTUD5_ENST00000396743.3_Silent_p.F309F|OTUD5_ENST00000428668.2_Silent_p.F92F	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	314	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GTATCCCATGGAATGTGTTGA	0.502000													33	37					0	0	1	0	0
CYP4F2	8529	broad.mit.edu	37	19	15990627	15990627	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:15990627G>A	ENST00000221700.5	-	10	1291	c.1196C>T	c.(1195-1197)tCc>tTc	p.S399F	CYP4F2_ENST00000592328.1_Missense_Mutation_p.S399F	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	399					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GACATGGCGGGAGATGACCGG	0.637000													59	55					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955461	55955461	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55955461C>T	ENST00000373965.2	-	11	1681	c.1287G>A	c.(1285-1287)ctG>ctA	p.L429L	PCDH15_ENST00000320301.6_Silent_p.L429L|PCDH15_ENST00000361849.3_Silent_p.L429L|PCDH15_ENST00000373955.1_Silent_p.L429L|PCDH15_ENST00000414778.1_Silent_p.L434L|PCDH15_ENST00000409834.1_Silent_p.L33L|PCDH15_ENST00000395445.1_Silent_p.L429L|PCDH15_ENST00000395446.1_Silent_p.L429L|PCDH15_ENST00000437009.1_Silent_p.L429L|PCDH15_ENST00000373957.3_Silent_p.L407L|PCDH15_ENST00000395430.1_Silent_p.L429L|PCDH15_ENST00000395432.2_Silent_p.L392L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L429L|PCDH15_ENST00000395433.1_Silent_p.L407L|PCDH15_ENST00000395440.1_Silent_p.L429L	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	429	Cadherin 4.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGTCCTTGTCCAGAGCTACTA	0.378000										HNSCC(58;0.16)			9	32					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694576	42694576	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42694576C>T	ENST00000358131.5	+	6	1339	c.1131C>T	c.(1129-1131)tcC>tcT	p.S377S	TOX2_ENST00000435864.2_Silent_p.S273S|TOX2_ENST00000372999.1_Silent_p.S353S|TOX2_ENST00000341197.3_Silent_p.S395S|TOX2_ENST00000423191.1_Silent_p.S353S	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	377	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCACCCTCCTTCCCGCTCA	0.721000													14	26					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155837856	155837856	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155837856G>A	ENST00000368324.4	+	2	388	c.135G>A	c.(133-135)gaG>gaA	p.E45E	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	45						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			AGCAGGCAGAGAAGAAGCAGA	0.527000													64	40					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123989949	123989949	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123989949T>G	ENST00000369005.1	+	16	8461	c.8121T>G	c.(8119-8121)gaT>gaG	p.D2707E	TACC2_ENST00000513429.1_Missense_Mutation_p.D853E|TACC2_ENST00000369001.1_Intron|TACC2_ENST00000369000.1_Intron|TACC2_ENST00000260733.3_Missense_Mutation_p.D785E|TACC2_ENST00000453444.2_Intron|TACC2_ENST00000368999.1_Missense_Mutation_p.D797E|TACC2_ENST00000358010.1_Missense_Mutation_p.D853E|TACC2_ENST00000334433.3_Missense_Mutation_p.D2707E|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000369004.3_Intron|TACC2_ENST00000515273.1_Intron|TACC2_ENST00000360561.3_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2707						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCCACCAGGATGCCAAGGTAC	0.602000													24	45					0	0	1	0	0
PCDHB4	56131	broad.mit.edu	37	5	140503187	140503187	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140503187G>T	ENST00000194152.1	+	1	1607	c.1607G>T	c.(1606-1608)gGt>gTt	p.G536V		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGACCGCGGTTCTCCGGCT	0.662000													21	84					3.62473e-10	3.6501e-10	1	1	0
RBP3	5949	broad.mit.edu	37	10	48389276	48389276	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48389276T>C	ENST00000224600.4	-	1	1715	c.1602A>G	c.(1600-1602)caA>caG	p.Q534Q		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	534	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	ACACCCCACGTTGGGTGCTGT	0.652000													13	33					0	0	1	0	0
GYPB	2994	broad.mit.edu	37	4	144920579	144920579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:144920579G>A	ENST00000283126.7	-	3	215	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	GYPB_ENST00000513128.1_Missense_Mutation_p.R21C|RP11-673E1.4_ENST00000506982.1_RNA|GYPB_ENST00000502664.1_Missense_Mutation_p.R54C|GYPB_ENST00000429670.2_Missense_Mutation_p.R54C|GYPB_ENST00000510196.2_5'UTR					glycophorin B (MNS blood group)											breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					ACAGTGAAACGATGGACAAGT	0.313000													12	10					0	0	1	0	0
ATRN	8455	broad.mit.edu	37	20	3529819	3529819	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:3529819C>T	ENST00000262919.5	+	6	1014	c.946C>T	c.(946-948)Cct>Tct	p.P316S	ATRN_ENST00000446916.2_Missense_Mutation_p.P316S	NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	316					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTATTAGGTCCTGGATGTTC	0.333000													31	34					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920526	219920526	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219920526C>T	ENST00000295731.5	-	3	638	c.639G>A	c.(637-639)gaG>gaA	p.E213E		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	213					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGCCCCACTCTCCAGGCGTA	0.652000													6	22					0	0	1	0	0
PDIA6	10130	broad.mit.edu	37	2	10937289	10937289	+	Silent	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:10937289G>T	ENST00000404371.2	-	6	757	c.420C>A	c.(418-420)tcC>tcA	p.S140S	PDIA6_ENST00000272227.3_Silent_p.S88S|PDIA6_ENST00000404824.2_Silent_p.S136S|PDIA6_ENST00000381611.4_Silent_p.S93S|PDIA6_ENST00000540494.1_Silent_p.S85S|PDIA6_ENST00000489662.1_5'UTR			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	88					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GACCTCCTAGGGAATGATGCT	0.398000													7	52					0.00198382	0.00198673	1	1	0
RTP3	83597	broad.mit.edu	37	3	46542359	46542359	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46542359C>T	ENST00000296142.3	+	2	1241	c.669C>T	c.(667-669)atC>atT	p.I223I		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	223					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCATTGTTATCGTGGTGATTG	0.378000													32	11					0	0	1	0	0
SCNN1G	6340	broad.mit.edu	37	16	23226620	23226620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23226620C>T	ENST00000300061.2	+	13	1923	c.1780C>T	c.(1780-1782)Cca>Tca	p.P594S		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	594					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	CCAGGACAATCCAGCCCTGGA	0.612000													21	57					0	0	1	0	0
FSD1	79187	broad.mit.edu	37	19	4307975	4307975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:4307975C>T	ENST00000221856.6	+	4	487	c.340C>T	c.(340-342)Cct>Tct	p.P114S	FSD1_ENST00000597590.1_Missense_Mutation_p.P114S|FSD1_ENST00000598010.1_3'UTR	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	114	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGGACTTTCCTCAGGTGGG	0.557000													8	22					0	0	1	0	0
CCDC93	54520	broad.mit.edu	37	2	118753067	118753067	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:118753067G>A	ENST00000376300.2	-	6	611	c.474C>T	c.(472-474)ttC>ttT	p.F158F	CCDC93_ENST00000319432.5_Silent_p.F158F|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	158										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						TTCTCTTTATGAAGTCATCAT	0.423000													27	21					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87359970	87359970	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:87359970C>T	ENST00000304053.6	+	11	1761	c.1278C>T	c.(1276-1278)acC>acT	p.T426T	NTRK2_ENST00000376214.1_Silent_p.T426T|NTRK2_ENST00000277120.3_Silent_p.T426T|NTRK2_ENST00000376208.1_Silent_p.T426T|NTRK2_ENST00000376213.1_Silent_p.T426T|NTRK2_ENST00000395882.1_Silent_p.T426T|NTRK2_ENST00000323115.4_Silent_p.T426T|NTRK2_ENST00000359847.3_Silent_p.T426T|NTRK2_ENST00000395866.2_Silent_p.T270T	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	426					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTGATAAAACCGGTCGGGAAC	0.458000										TSP Lung(25;0.17)			41	4					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15642096	15642096	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:15642096G>A	ENST00000437605.2	+	8	699	c.449G>A	c.(448-450)aGc>aAc	p.S150N	AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.S150N|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666.2	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	150	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CTAGATGTCAGCCACACCCTG	0.542000													34	86					0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254555	30254555	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:30254555G>A	ENST00000361644.2	+	5	1251	c.514G>A	c.(514-516)Gat>Aat	p.D172N	MAGEB3_ENST00000378986.1_Missense_Mutation_p.D172N	NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	172	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAAGAAAGTTGATTCTACCAA	0.423000													8	21					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64520142	64520142	+	Nonsense_Mutation	SNP	C	C	T	rs80035540		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:64520142C>T	ENST00000358025.3	+	48	9741	c.9511C>T	c.(9511-9513)Caa>Taa	p.Q3171*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.Q3171*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.Q3204*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3171					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATAAAATCTCAATTACAGCA	0.318000													17	21					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57756644	57756644	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57756644G>A	ENST00000360716.3	+	11	1520	c.1299G>A	c.(1297-1299)ccG>ccA	p.P433P	CCDC135_ENST00000336825.8_Silent_p.P368P|CCDC135_ENST00000394337.4_Silent_p.P433P			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	433			P -> L (in dbSNP:rs3809611).			cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CCCGCTGCCCGAACGGGAAGA	0.582000													14	21					0	0	1	0	0
OR10G2	26534	broad.mit.edu	37	14	22102955	22102955	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22102955T>C	ENST00000542433.1	-	1	141	c.44A>G	c.(43-45)gAt>gGt	p.D15G		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAGAATGAAATCTGTCACCAC	0.463000													76	69					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96800166	96800166	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96800166G>A	ENST00000359933.4	-	8	1959	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	356										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGCATGGGTCGATTTTTCCTA	0.348000													22	56					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885876	88885876	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:88885876C>T	ENST00000319675.3	-	1	420	c.324G>A	c.(322-324)acG>acA	p.T108T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	108										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCTCAGGGGTCGTCAGGCCTC	0.547000													34	71					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142881239	142881239	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142881239G>C	ENST00000446620.1	+	1	728	c.728G>C	c.(727-729)gGa>gCa	p.G243A		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	243					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CTACACATGGGAAGCAATGCC	0.493000													44	53					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694899	30694899	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30694899C>T	ENST00000256246.2	-	3	7826	c.7752G>A	c.(7750-7752)aaG>aaA	p.K2584K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2584										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TCAATGTATCCTTCATGTATT	0.403000													24	39					0	0	1	0	0
GSDMB	55876	broad.mit.edu	37	17	38073527	38073527	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38073527C>T	ENST00000394175.2	-	1	266	c.43G>A	c.(43-45)Gag>Aag	p.E15K	GSDMB_ENST00000394179.1_Missense_Mutation_p.E15K|GSDMB_ENST00000418519.1_Missense_Mutation_p.E15K|GSDMB_ENST00000309481.7_Missense_Mutation_p.E15K|GSDMB_ENST00000520542.1_Missense_Mutation_p.E15K|GSDMB_ENST00000360317.3_Missense_Mutation_p.E15K	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	15						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						GCATCCATCTCCTTAACTACA	0.458000													21	147					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55396030	55396030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:55396030G>A	ENST00000341048.4	-	12	1976	c.1825C>T	c.(1825-1827)Ccc>Tcc	p.P609S	ANKRD55_ENST00000504958.2_Missense_Mutation_p.P566S|ANKRD55_ENST00000434982.2_Missense_Mutation_p.P321S	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	608										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGGTGGGGTTGGCAGAA	0.448000													41	38					0	0	1	0	0
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	3					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77458147	77458147	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:77458147C>T	ENST00000308488.6	-	3	608	c.306G>A	c.(304-306)tgG>tgA	p.W102*	RSF1_ENST00000360355.2_Intron			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	102					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCTCCCATGCCCAGGTACTGT	0.323000													8	35					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124195299	124195299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:124195299C>T	ENST00000518448.1	+	2	2217	c.203C>T	c.(202-204)gCc>gTc	p.A68V	FAM83A_ENST00000276699.6_Missense_Mutation_p.A68V|FAM83A_ENST00000546351.1_Missense_Mutation_p.A68V|FAM83A_ENST00000318462.6_Missense_Mutation_p.A68V|FAM83A_ENST00000536633.1_Missense_Mutation_p.A68V|FAM83A_ENST00000522648.1_Missense_Mutation_p.A68V			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	68										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TCGGTGGAGGCCCAGTACATC	0.682000													24	17					0	0	1	0	0
MAP3K2	10746	broad.mit.edu	37	2	128079751	128079751	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:128079751G>A	ENST00000409947.1	-	12	1198	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	MAP3K2_ENST00000344908.5_Missense_Mutation_p.H306Y			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	306					activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CTTAAGGAATGATCAGTAGGA	0.423000													16	12					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57415733	57415733	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57415733G>A	ENST00000313949.7	+	1	961	c.572G>A	c.(571-573)gGg>gAg	p.G191E	GNAS_ENST00000371098.2_Missense_Mutation_p.G191E|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.G191E|GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA			P63092	GNAS2_HUMAN	GNAS complex locus	316					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCAGGGAAGGGGAGGAGCTC	0.662000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	20					0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566873	4566873	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4566873C>T	ENST00000360213.1	+	1	453	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGTTTCTCTCCTCCGGGGTG	0.527000													36	52					0	0	1	0	0
FMN2	56776	broad.mit.edu	37	1	240286514	240286514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:240286514G>A	ENST00000319653.9	+	2	1881	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	551					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.E694K(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGCCAGCAGGAGAACGGGCC	0.532000													20	144					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48391906	48391906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:48391906C>T	ENST00000435803.1	+	31	10534	c.10510C>T	c.(10510-10512)Cct>Tct	p.P3504S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3504					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGTAAAAAACCCTTCTTGGAA	0.448000													40	54					0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10387101	10387101	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:10387101C>T	ENST00000397077.1	-	17	3110	c.2535G>A	c.(2533-2535)gtG>gtA	p.V845V	ATP2B2_ENST00000352432.4_Silent_p.V890V|ATP2B2_ENST00000343816.4_Silent_p.V876V|ATP2B2_ENST00000360273.2_Silent_p.V890V|ATP2B2_ENST00000383800.4_Silent_p.V845V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	890					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGGCCACAATCACGGCCACCA	0.617000													25	23					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1481044	1481044	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1481044C>T	ENST00000345913.4	+	8	1097	c.1006C>T	c.(1006-1008)Cta>Tta	p.L336L	TPO_ENST00000337415.3_Silent_p.L336L|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Intron|TPO_ENST00000382201.3_Silent_p.L336L|TPO_ENST00000349624.3_Intron|TPO_ENST00000346956.3_Silent_p.L336L|TPO_ENST00000329066.4_Silent_p.L336L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	336					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTCCCCGGCCCTAGAGAGGCA	0.701000													4	35					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31165103	31165103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31165103C>T	ENST00000349752.5	-	9	1534	c.895G>A	c.(895-897)Gat>Aat	p.D299N	GALNT14_ENST00000420311.2_Missense_Mutation_p.D264N|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.D279N|GALNT14_ENST00000356174.3_Missense_Mutation_p.D266N|GALNT14_ENST00000324589.5_Missense_Mutation_p.D304N	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	299	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					ATGTCCATATCATATTTCCCC	0.512000													110	40					0	0	1	0	0
SYCE1	93426	broad.mit.edu	37	10	135369312	135369312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135369312G>A	ENST00000368517.3	-	10	721	c.583C>T	c.(583-585)Ctc>Ttc	p.L195F	SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000343131.5_Missense_Mutation_p.L231F|SYCE1_ENST00000432597.2_Missense_Mutation_p.L195F	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	231					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGGCTGCGGAGAAAGAGTCCC	0.637000													33	12					0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113860197	113860197	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:113860197C>T	ENST00000504030.2	+	9	1594	c.1149C>T	c.(1147-1149)aaC>aaT	p.N383N	HTR3A_ENST00000375498.2_Silent_p.N389N|HTR3A_ENST00000506841.2_Silent_p.N415N|HTR3A_ENST00000299961.5_Silent_p.N368N|HTR3A_ENST00000535865.1_Silent_p.N127N|HTR3A_ENST00000355556.2_Silent_p.N421N			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	383					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.N415K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCATGGGAAACCACTGCAGCC	0.592000													24	44					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47549148	47549148	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:47549148C>T	ENST00000357838.4	+	28	2582	c.2500C>T	c.(2500-2502)Ctc>Ttc	p.L834F	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.L834F	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	571	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGTCACCTTCCTCCGCACGGA	0.672000													54	66					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79410210	79410210	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:79410210G>A	ENST00000264895.6	+	59	9374	c.8934G>A	c.(8932-8934)cgG>cgA	p.R2978R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2973	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTTCACGGATTACATTTC	0.418000													21	31					0	0	1	0	0
CHDH	55349	broad.mit.edu	37	3	53853678	53853678	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:53853678C>T	ENST00000315251.5	-	7	1581	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	382					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CCACCTGTTTCCAGATGGGCA	0.642000													4	22					0	0	1	0	0
NXPE2	120406	broad.mit.edu	37	11	114569187	114569187	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:114569187G>A	ENST00000375475.5	+	3	651	c.553G>A	c.(553-555)Ggc>Agc	p.G185S	NXPE2_ENST00000389586.4_Missense_Mutation_p.G185S					neurexophilin and PC-esterase domain family, member 2																		GTTCTGGGAGGGCCAGGTTTC	0.547000													10	2					0	0	1	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325593	150325593	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150325593C>T	ENST00000328902.5	-	3	309	c.93G>A	c.(91-93)agG>agA	p.R31R	GIMAP6_ENST00000493969.1_Intron	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	31							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTCTTTCTCCCTTAGACCTA	0.537000													58	163					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545403	234545403	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:234545403A>G	ENST00000344644.5	+	1	304	c.235A>G	c.(235-237)Acc>Gcc	p.T79A	UGT1A10_ENST00000373445.1_Missense_Mutation_p.T79A|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACTTACTCAACCTCGTACAC	0.453000													12	53					0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978391	10978391	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10978391T>C	ENST00000240619.2	-	1	566	c.478A>G	c.(478-480)Aca>Gca	p.T160A		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	160					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCCCAGACTGTGTCATTCTTC	0.303000													8	35					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28115990	28115990	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:28115990G>A	ENST00000304658.5	-	21	3323	c.2823C>T	c.(2821-2823)ctC>ctT	p.L941L	XPO6_ENST00000565698.1_Silent_p.L927L	NM_015171.2	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	941					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCCGGAAAAGGAGCTCAAACA	0.607000													7	30					0	0	1	0	0
TBX3	6926	broad.mit.edu	37	12	115115394	115115394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:115115394C>T	ENST00000349155.2	-	4	1835	c.872G>A	c.(871-873)aGa>aAa	p.R291K	TBX3_ENST00000257566.3_Missense_Mutation_p.R311K	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN	T-box 3	311					anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CCTTTTTTCTCTTCGGCCATT	0.373000													29	26					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221312	118221312	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:118221312G>A	ENST00000402510.2	-	11	3880	c.3881C>T	c.(3880-3882)cCc>cTc	p.P1294L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1294										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AAGCTGCCTGGGAGACAGCTG	0.488000													36	40					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450285	55450285	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55450285C>T	ENST00000588756.1	-	6	2388	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	NLRP7_ENST00000592784.1_Missense_Mutation_p.M634I|NLRP7_ENST00000340844.2_Missense_Mutation_p.M634I|NLRP7_ENST00000448121.2_Missense_Mutation_p.M634I|NLRP7_ENST00000446217.1_Missense_Mutation_p.M662I|NLRP7_ENST00000590030.1_Missense_Mutation_p.M634I|NLRP7_ENST00000328092.5_Missense_Mutation_p.M634I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	634							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCAAAATCCATGTAATTCT	0.473000													43	41					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14512302	14512302	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14512302T>C	ENST00000242786.5	+	10	1082	c.1002T>C	c.(1000-1002)ctT>ctC	p.L334L	CD97_ENST00000358600.3_Silent_p.L241L|CD97_ENST00000357355.3_Silent_p.L285L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	334					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCTCAAACCTTGAAGATATCA	0.572000													21	25					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169780292	169780292	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169780292G>A	ENST00000263817.6	-	28	3930	c.3806C>T	c.(3805-3807)aCc>aTc	p.T1269I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1269	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GACAATGCAGGTCCGACCCTC	0.522000													27	16					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140250388	140250388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140250388C>T	ENST00000398640.2	+	1	1700	c.1700C>T	c.(1699-1701)aCt>aTt	p.T567I	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTGGCGACTCAGGCTGGC	0.687000													101	40					0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154394051	154394051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:154394051G>A	ENST00000435029.4	+	1	792	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	211	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTCGTCCCGATCTCATGCC	0.468000													19	79					0	0	1	0	0
ATG4D	84971	broad.mit.edu	37	19	10663560	10663560	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10663560G>A	ENST00000309469.4	+	10	1415		c.e10-1		ATG4D_ENST00000540862.1_Splice_Site	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTTCCCGCCAGGTCCTCAGCT	0.602000													29	40					0	0	1	0	0
PEX5	5830	broad.mit.edu	37	12	7362672	7362672	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7362672C>T	ENST00000266563.5	+	15	1845	c.1662C>T	c.(1660-1662)ggC>ggT	p.G554G	PEX5_ENST00000420616.2_Silent_p.G591G|PEX5_ENST00000266564.3_Silent_p.G583G|PEX5_ENST00000455147.2_Silent_p.G591G|PEX5_ENST00000412720.2_Silent_p.G612G|PEX5_ENST00000434354.2_Silent_p.G606G	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	591					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						AAAGCCGGGGCCCCCGGGGTG	0.567000													7	41					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140846732	140846732	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140846732G>A	ENST00000277549.5	+	0	1118				CACNA1B_ENST00000277551.2_Missense_Mutation_p.D325N|CACNA1B_ENST00000371363.1_Missense_Mutation_p.D325N|CACNA1B_ENST00000371355.4_Missense_Mutation_p.D325N|CACNA1B_ENST00000371357.1_Missense_Mutation_p.D325N|CACNA1B_ENST00000371372.1_Missense_Mutation_p.D325N			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGACAAACGATGCGGCCGG	0.597000													9	27					0	0	1	0	0
PNLIPRP2	5408	broad.mit.edu	37	10	118394456	118394456	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:118394456G>A	ENST00000537242.1	+	0	948				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		TGCCTCCTACGATGAGTTTCA	0.507000													22	8					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3786113	3786113	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3786113T>C	ENST00000262367.5	-	28	5461	c.4652A>G	c.(4651-4653)gAg>gGg	p.E1551G	CREBBP_ENST00000382070.3_Missense_Mutation_p.E1513G	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1551	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTTAATGCTCTCTTCTAACAC	0.468000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						13	54					0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183883230	183883230	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183883230C>T	ENST00000313143.3	+	7	962	c.714C>T	c.(712-714)atC>atT	p.I238I	EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_Silent_p.I238I	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	238					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TCAGCAGCATCACGGACTCCA	0.547000													8	28					0	0	1	0	0
GCLC	2729	broad.mit.edu	37	6	53364879	53364879	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:53364879G>A	ENST00000229416.6	-	15	2149	c.1666C>T	c.(1666-1668)Ctg>Ttg	p.L556L		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	556					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGGTAGTTCAGAATACTACAT	0.368000													24	35					0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98275434	98275434	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:98275434G>A	ENST00000289228.5	-	5	564	c.348C>T	c.(346-348)aaC>aaT	p.N116N		NM_005735.3	NP_005726.1	P42025	ACTY_HUMAN	ARP1 actin-related protein 1 homolog B, centractin beta (yeast)	116						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						TCTTACTCGGGTTGAGCGGGG	0.587000													78	96					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902716	74902716	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:74902716C>T	ENST00000357877.2	+	11	1586	c.1437C>T	c.(1435-1437)gcC>gcT	p.A479A	SEMA4F_ENST00000339773.5_Silent_p.A324A|SEMA4F_ENST00000473350.1_3'UTR	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	479	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AAGATCTGGCCTTATTCCCAG	0.488000													15	104					0	0	1	0	0
KRTAP19-4	337971	broad.mit.edu	37	21	31869245	31869245	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:31869245G>A	ENST00000334058.2	-	1	206	c.184C>T	c.(184-186)Cta>Tta	p.L62L		NM_181610.1	NP_853641.1	Q3LI73	KR194_HUMAN	keratin associated protein 19-4	62						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GATTTCAGTAGAATTGAGAAT	0.453000													39	100					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344844	50344844	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50344844G>A	ENST00000199280.3	+	1	316	c.231G>A	c.(229-231)gtG>gtA	p.V77V		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	77					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						CCTGCCTGGTGGGCTGCCACG	0.657000													22	22					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122111485	122111485	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:122111485G>A	ENST00000334010.7	-	13	2554	c.2133C>T	c.(2131-2133)gaC>gaT	p.D711D	CADPS2_ENST00000449022.2_Silent_p.D710D|CADPS2_ENST00000412584.2_Silent_p.D707D|CADPS2_ENST00000313070.7_Silent_p.D707D	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	710					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GCAGGGTAGGGTCAATGACAG	0.453000													12	21					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89587621	89587621	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:89587621G>A	ENST00000370466.3	-	2	297	c.29C>T	c.(28-30)cCa>cTa	p.P10L		NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	10					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GAGGCTCATTGGGCCCGGCAA	0.483000													25	38					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147155	26147155	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:26147155G>A	ENST00000331351.5	+	2	1349	c.957G>A	c.(955-957)cgG>cgA	p.R319R	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	319					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAAAACCGGACCCTCGGGC	0.552000													51	118					0	0	1	0	0
GPR114	221188	broad.mit.edu	37	16	57608917	57608917	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57608917G>A	ENST00000340339.4	+	11	1922	c.1399G>A	c.(1399-1401)Gga>Aga	p.G467R	GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.G467R	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	467					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGTGCTGCTGGGAACCACCTG	0.627000													8	10					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21445169	21445169	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:21445169G>A	ENST00000307378.6	-	13	2259	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	SLCO1A2_ENST00000537524.1_Silent_p.F381F|SLCO1A2_ENST00000390670.3_Silent_p.F511F|SLCO1A2_ENST00000452078.1_Silent_p.F513F|SLCO1A2_ENST00000458504.1_Silent_p.F381F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	513					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACAAGATTAGGAAGTACTGGA	0.383000													3	17					0	0	1	0	0
C10orf54	64115	broad.mit.edu	37	10	73511435	73511435	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:73511435G>A	ENST00000394957.3	-	6	946	c.888C>T	c.(886-888)ttC>ttT	p.F296F	CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	296						integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						CCAGGGATGGGAAGAAGACGT	0.622000													12	36					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40727061	40727061	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40727061C>T	ENST00000373198.3	-	28	4147	c.3912_splice	c.e28+1	p.Q1304_splice	PTPRT_ENST00000373201.1_Splice_Site_p.Q1272_splice|PTPRT_ENST00000356100.2_Splice_Site_p.Q1291_splice|PTPRT_ENST00000373184.1_Splice_Site_p.Q1292_splice|PTPRT_ENST00000373190.1_Splice_Site_p.Q1281_splice|PTPRT_ENST00000373193.3_Splice_Site_p.Q1285_splice|PTPRT_ENST00000373187.1_Splice_Site_p.Q1282_splice	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1282	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CTCCTCCTACCTGGGCAGTGT	0.602000													17	68					0	0	1	0	0
FLT3	2322	broad.mit.edu	37	13	28608113	28608113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:28608113G>A	ENST00000380982.4	-	15	1934	c.1853C>T	c.(1852-1854)tCa>tTa	p.S618L	FLT3_ENST00000537084.1_Missense_Mutation_p.S618L|FLT3_ENST00000241453.7_Missense_Mutation_p.S618L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	618	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.G617_S618ins21(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AAAAGCACCTGATCCTAGTAC	0.403000			"""Mis, O"""		"""AML, ALL"""								47	50					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333363	36333363	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36333363C>T	ENST00000378910.5	-	18	2423	c.2424G>A	c.(2422-2424)ctG>ctA	p.L808L	NPHS1_ENST00000353632.6_Silent_p.L808L	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	808	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCTGGGCCAGTTTGGCAT	0.592000													21	112					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34647767	34647767	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34647767G>A	ENST00000537011.1	+	8	1940	c.1558G>A	c.(1558-1560)Gac>Aac	p.D520N	NUTM1_ENST00000438749.3_Missense_Mutation_p.D510N|NUTM1_ENST00000333756.4_Missense_Mutation_p.D492N					NUT midline carcinoma, family member 1																		CGCTCAGTTGGACTCAAGTCC	0.567000													50	56					0	0	1	0	0
OR2F2	135948	broad.mit.edu	37	7	143632663	143632663	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143632663T>A	ENST00000408955.2	+	1	405	c.338T>A	c.(337-339)gTt>gAt	p.V113D		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATTGAGTTTGTTCTCCTGGCA	0.547000													41	60					0	0	1	0	0
TCF3	6929	broad.mit.edu	37	19	1615541	1615541	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1615541G>A	ENST00000395423.3	-	14	1604	c.1577C>T	c.(1576-1578)cCc>cTc	p.P526L	TCF3_ENST00000344749.5_Intron|TCF3_ENST00000262965.5_Intron|TCF3_ENST00000453954.2_Intron|TCF3_ENST00000588136.1_Intron			P15923	TFE2_HUMAN	transcription factor 3	533					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		GCGCCGGGAGGGGGCCAGAGG	0.697000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								17	16					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21818633	21818633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21818633C>T	ENST00000328843.6	+	58	9446	c.9415C>T	c.(9415-9417)Cat>Tat	p.H3139Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.H3132Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3139	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGAGAAATCATGATGCCGA	0.488000									Kartagener syndrome				46	24					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2764357	2764357	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2764357G>A	ENST00000399655.1	+	34	4450	c.4185G>A	c.(4183-4185)cgG>cgA	p.R1395R	CACNA1C_ENST00000406454.3_Silent_p.R1395R|CACNA1C_ENST00000399637.1_Silent_p.R1395R|CACNA1C_ENST00000347598.4_Silent_p.R1443R|CACNA1C_ENST00000327702.7_Silent_p.R1395R|CACNA1C_ENST00000399606.1_Silent_p.R1415R|CACNA1C_ENST00000399601.1_Silent_p.R1395R|CACNA1C_ENST00000399644.1_Silent_p.R1395R|CACNA1C_ENST00000399641.1_Silent_p.R1395R|CACNA1C_ENST00000399649.1_Silent_p.R1382R|CACNA1C_ENST00000399603.1_Silent_p.R1395R|CACNA1C_ENST00000399595.1_Silent_p.R1384R|CACNA1C_ENST00000399634.1_Silent_p.R1395R|CACNA1C_ENST00000399617.1_Silent_p.R1395R|CACNA1C_ENST00000399638.1_Silent_p.R1423R|CACNA1C_ENST00000399591.1_Silent_p.R1384R|CACNA1C_ENST00000399629.1_Silent_p.R1412R|CACNA1C_ENST00000344100.3_Silent_p.R1417R|CACNA1C_ENST00000399597.1_Silent_p.R1395R|CACNA1C_ENST00000402845.3_Silent_p.R1395R|CACNA1C_ENST00000399621.1_Silent_p.R1395R|CACNA1C_ENST00000335762.5_Silent_p.R1420R	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1443					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AGATCAACCGGAACAACAACT	0.502000													5	24					0	0	1	0	0
VPS9D1	9605	broad.mit.edu	37	16	89785453	89785453	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:89785453C>T	ENST00000389386.3	-	2	281	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	VPS9D1_ENST00000561976.1_5'UTR	NM_004913.2	NP_004904.2			VPS9 domain containing 1																		GTTTCCACTTCTTCTAGTAAC	0.577000													56	5					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022597	7022597	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7022597C>T	ENST00000278314.4	-	3	632	c.317G>A	c.(316-318)tGg>tAg	p.W106*	ZNF214_ENST00000536068.1_Nonsense_Mutation_p.W106*	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GAGTATTAACCATTCCTGACA	0.423000													89	299					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57752864	57752864	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:57752864T>A	ENST00000274289.3	-	8	1364	c.1064A>T	c.(1063-1065)cAc>cTc	p.H355L	PLK2_ENST00000502671.1_5'UTR	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	355					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GCTTGATAAGTGGAAATCTGG	0.403000													23	19					0	0	1	0	0
POF1B	79983	broad.mit.edu	37	X	84586074	84586074	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:84586074C>T	ENST00000262753.4	-	7	880	c.735G>A	c.(733-735)caG>caA	p.Q245Q	POF1B_ENST00000373145.3_Silent_p.Q245Q	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	245							actin binding	p.Q245H(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGCCATCATCCTGAATTATCA	0.348000													9	13					0	0	1	0	0
OR6B2	389090	broad.mit.edu	37	2	240969754	240969754	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:240969754G>A	ENST00000402971.2	-	1	152	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		AGGTGAGCAGGAAGAGGAGGA	0.587000													11	96					0	0	1	0	0
ZSWIM3	140831	broad.mit.edu	37	20	44506773	44506773	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:44506773A>G	ENST00000255152.2	+	2	1785	c.1576A>G	c.(1576-1578)Atg>Gtg	p.M526V	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.M520V	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	526							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCTGGTGGACATGGCTGGCTC	0.542000													16	26					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39602662	39602662	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:39602662C>T	ENST00000287152.7	-	5	566	c.472G>A	c.(472-474)Gat>Aat	p.D158N	KIF6_ENST00000373216.3_Missense_Mutation_p.D158N|KIF6_ENST00000538893.1_Missense_Mutation_p.D158N|KIF6_ENST00000373215.3_Missense_Mutation_p.D158N	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	158	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGTCTTGGATCCAAAAGATCA	0.358000													19	82					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3141789	3141789	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3141789G>A	ENST00000520002.1	-	27	4588	c.4033C>T	c.(4033-4035)Ctg>Ttg	p.L1345L	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Silent_p.L1344L|CSMD1_ENST00000400186.3_Silent_p.L1345L|CSMD1_ENST00000602557.1_Silent_p.L1345L|CSMD1_ENST00000537824.1_Silent_p.L1344L|CSMD1_ENST00000542608.1_Silent_p.L1344L|CSMD1_ENST00000602723.1_Silent_p.L1345L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1345	CUB 8.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TCCTTCAGCAGGATGTCACTG	0.557000											OREG0018505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	32					0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997672	27997672	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:27997672G>A	ENST00000441525.1	-	1	1894	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	594										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CACTGCACTCGATCTTGGCCC	0.478000													13	12					0	0	1	0	0
ACSM3	6296	broad.mit.edu	37	16	20803432	20803432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20803432G>A	ENST00000289416.5	+	11	1910	c.1435G>A	c.(1435-1437)Gat>Aat	p.D479N	ACSM3_ENST00000567387.1_3'UTR|ACSM3_ENST00000450120.2_Missense_Mutation_p.D471N|ERI2_ENST00000300005.3_Intron	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	479					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						AAGAGCAGATGATGTCATATT	0.393000													56	46					0	0	1	0	0
TDRD6	221400	broad.mit.edu	37	6	46656336	46656336	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46656336C>T	ENST00000544460.1	+	1	725	c.471C>T	c.(469-471)ttC>ttT	p.F157F	TDRD6_ENST00000316081.6_Silent_p.F157F	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	157					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CCGTGGACTTCCTTAGCAACC	0.692000													10	30					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608893	608893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:608893C>T	ENST00000264555.5	+	14	3565	c.3437C>T	c.(3436-3438)cCa>cTa	p.P1146L	PHRF1_ENST00000413872.2_Missense_Mutation_p.P1144L|PHRF1_ENST00000533464.1_Missense_Mutation_p.P1142L|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1145L	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1146	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CACGAGCGGCCAGACAGGAAG	0.692000													9	16					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62459937	62459937	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:62459937C>T	ENST00000383710.4	-	24	3737	c.3388G>A	c.(3388-3390)Gtc>Atc	p.V1130I	CADPS_ENST00000357948.3_Missense_Mutation_p.V1051I|CADPS_ENST00000283269.9_Missense_Mutation_p.V1091I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1130					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GACTGTGGGACTCGAAAATCT	0.373000													31	51					0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35064744	35064744	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35064744A>G	ENST00000373913.3	+	4	1712	c.1232A>G	c.(1231-1233)aAc>aGc	p.N411S	DLGAP4_ENST00000373907.2_Missense_Mutation_p.N411S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.N411S|DLGAP4_ENST00000339266.5_Missense_Mutation_p.N411S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	411					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGCAGAGCAACCCCCGCAGG	0.687000													4	19					0	0	1	0	0
MROH8	140699	broad.mit.edu	37	20	35731208	35731208	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35731208G>A	ENST00000400441.3	-	24	3010	c.3011C>T	c.(3010-3012)cCc>cTc	p.P1004L	MROH8_ENST00000466091.1_5'UTR|MROH8_ENST00000441008.2_3'UTR|MROH8_ENST00000217333.8_Missense_Mutation_p.P833L					maestro heat-like repeat family member 8																		GCACAGCGAGGGCTCAGGGTC	0.517000													42	149					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105367281	105367281	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:105367281C>T	ENST00000297581.2	+	3	1255	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	402					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											AACTTAAAATCCTGGTGTCAG	0.443000													67	35					0	0	1	0	0
RFPL4B	442247	broad.mit.edu	37	6	112671701	112671701	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:112671701G>A	ENST00000441065.2	+	3	1103	c.791G>A	c.(790-792)tGa>tAa	p.*264*		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	0							zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		ATCTGCCCATGAGAAAGTCAG	0.463000													13	17					0	0	1	0	0
OTOP3	347741	broad.mit.edu	37	17	72943188	72943188	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72943188G>A	ENST00000328801.4	+	6	1238	c.1238G>A	c.(1237-1239)aGc>aAc	p.S413N		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	413						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CCTACCCGCAGCCTGGATGTG	0.632000													14	62					0	0	1	0	0
LINC00969	440993	broad.mit.edu	37	3	195400716	195400716	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:195400716C>T	ENST00000445430.1	+	0	1312																											TGGCCAGGATCAGATTGTGCC	0.587000													21	2					0	0	1	0	0
PIP5K1C	23396	broad.mit.edu	37	19	3633482	3633482	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:3633482G>A	ENST00000335312.3	-	17	2045	c.1957C>T	c.(1957-1959)Cac>Tac	p.H653Y	PIP5K1C_ENST00000539785.1_Intron	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	653	Mediates interaction with TLN2.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GCGCTATAGTGGAGCGGGGAG	0.697000													16	16					0	0	1	0	0
ZNF324B	388569	broad.mit.edu	37	19	58966911	58966911	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58966911G>A	ENST00000391696.1	+	3	1502	c.570G>A	c.(568-570)caG>caA	p.Q190Q	ZNF324B_ENST00000336614.4_Silent_p.Q200Q|ZNF324B_ENST00000545523.1_Silent_p.Q200Q			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CATGTGCACAGGAGGTCCCTG	0.662000													28	31					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48328046	48328046	+	Missense_Mutation	SNP	C	C	T	rs146061383		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48328046C>T	ENST00000319988.1	+	1	272	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AAGATCATCTCCTTCAATGGC	0.468000													17	61					0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161090352	161090352	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161090352C>T	ENST00000368007.4	+	6	1118	c.736C>T	c.(736-738)Cgc>Tgc	p.R246C	NIT1_ENST00000368008.1_Intron|NIT1_ENST00000368009.2_Missense_Mutation_p.R261C|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000392190.5_Missense_Mutation_p.R225C	NM_001185093.1	NP_001172022.1	Q86X76	NIT1_HUMAN	nitrilase 1	261	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACAGTGTGGACGCCACCATGA	0.582000													104	55					0	0	1	0	0
KIAA0196	9897	broad.mit.edu	37	8	126051155	126051155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:126051155G>A	ENST00000318410.7	-	25	3350	c.3001C>T	c.(3001-3003)Cct>Tct	p.P1001S	KIAA0196_ENST00000517845.1_Missense_Mutation_p.P853S	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1001					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGGGGTAAGGAAGTGAAGGG	0.393000													29	73					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15730014	15730014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:15730014C>T	ENST00000378076.3	-	3	720	c.367G>A	c.(367-369)Gga>Aga	p.G123R		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	123					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCTTTGGTTCCATTAACTCTG	0.368000													34	109					0	0	1	0	0
PIK3R2	5296	broad.mit.edu	37	19	18279579	18279579	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18279579G>A	ENST00000593731.1	+	15	2412	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	PIK3R2_ENST00000222254.7_Missense_Mutation_p.E618K			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	618					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CCCGCACCACGAGGAACGCAC	0.662000											OREG0025359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	26					0	0	1	0	0
NEU3	10825	broad.mit.edu	37	11	74716749	74716749	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:74716749A>G	ENST00000294064.4	+	3	1525	c.598A>G	c.(598-600)Atc>Gtc	p.I200V	NEU3_ENST00000531509.1_Missense_Mutation_p.I200V|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000545272.1_Missense_Mutation_p.I91V|NEU3_ENST00000544263.1_Missense_Mutation_p.I167V	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	200										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						AGGTCATGGCATCCAGCTGCA	0.537000													53	76					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546405	11546405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11546405C>T	ENST00000389362.4	-	3	642	c.607G>A	c.(607-609)Gga>Aga	p.G203R	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGTGGTCCTTGTGGCTTT	0.607000													60	191					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109092241	109092241	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:109092241C>T	ENST00000309863.6	+	9	3709	c.2995C>T	c.(2995-2997)Cga>Tga	p.R999*		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	999					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TGAATCTCTTCGATCAGAAAA	0.308000													37	28					0	0	1	0	0
CTCFL	140690	broad.mit.edu	37	20	56099122	56099122	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:56099122A>C	ENST00000426658.2	-	1	801	c.140T>G	c.(139-141)tTg>tGg	p.L47W	CTCFL_ENST00000422109.2_Missense_Mutation_p.L47W|CTCFL_ENST00000433949.2_Missense_Mutation_p.L47W|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422869.2_Missense_Mutation_p.L47W|CTCFL_ENST00000243914.3_Missense_Mutation_p.L47W|CTCFL_ENST00000432255.2_Missense_Mutation_p.L47W|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.2_Missense_Mutation_p.L47W|CTCFL_ENST00000371196.2_Missense_Mutation_p.L47W|CTCFL_ENST00000429804.2_Missense_Mutation_p.L47W			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	47					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCGGCCTCCAACTCACTAGG	0.572000													93	285					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119770442	119770442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:119770442G>A	ENST00000313400.4	-	7	1620	c.1520C>T	c.(1519-1521)tCc>tTc	p.S507F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S456F|ASTN2_ENST00000373996.3_Missense_Mutation_p.S507F			O75129	ASTN2_HUMAN	astrotactin 2	507						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CACCCATGGGGAGGTGGCATT	0.572000													19	16					0	0	1	0	0
CA10	56934	broad.mit.edu	37	17	50149706	50149706	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:50149706C>T	ENST00000451037.2	-	2	1049	c.109G>A	c.(109-111)Gag>Aag	p.E37K	CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.E37K|CA10_ENST00000285273.4_Missense_Mutation_p.E37K|CA10_ENST00000340813.6_Missense_Mutation_p.E43K	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	37					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TGGACCACCTCCTTGTATGCC	0.368000													15	75					0	0	1	0	0
SFXN3	81855	broad.mit.edu	37	10	102794526	102794526	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:102794526G>A	ENST00000393459.1	+	3	548	c.75G>A	c.(73-75)cgG>cgA	p.R25R	SFXN3_ENST00000224807.5_Silent_p.R29R			Q9BWM7	SFXN3_HUMAN	sideroflexin 3	29					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(252;0.234)		Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GCAGAGCCCGGCACTTTTTCA	0.522000													30	79					0	0	1	0	0
EFHC2	80258	broad.mit.edu	37	X	44088967	44088967	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:44088967G>T	ENST00000420999.1	-	11	1762	c.1679C>A	c.(1678-1680)tCc>tAc	p.S560Y		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	560	EF-hand.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						GAGCTCTCTGGATTTTCCTTC	0.373000													12	18					2.80697e-09	2.82298e-09	1	1	0
NDST3	9348	broad.mit.edu	37	4	119174748	119174748	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:119174748G>A	ENST00000296499.5	+	13	2897	c.2494G>A	c.(2494-2496)Gat>Aat	p.D832N		NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	832	Heparan sulfate N-sulfotransferase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCCTCCAATGGATTCTGATGT	0.313000													62	44					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175067612	175067612	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:175067612G>A	ENST00000239462.4	+	9	2113	c.2000G>A	c.(1999-2001)gGg>gAg	p.G667E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	667	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTCCGGTGGGGAAGGAGCAG	0.627000													51	165					0	0	1	0	0
RASGRP3	25780	broad.mit.edu	37	2	33745625	33745625	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:33745625G>A	ENST00000403687.3	+	6	982	c.242G>A	c.(241-243)tGg>tAg	p.W81*	RASGRP3_ENST00000402538.3_Nonsense_Mutation_p.W81*|RASGRP3_ENST00000407811.1_Nonsense_Mutation_p.W81*	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	81	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TTCAGGTACTGGATTCTGAAG	0.378000													103	336					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612958	179612958	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179612958G>A	ENST00000360870.5	-	46	14391	c.14169C>T	c.(14167-14169)tcC>tcT	p.S4723S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	832	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCAGAAAAGGATTTAAGAG	0.323000													18	28					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32207776	32207776	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32207776G>A	ENST00000373658.3	-	8	1636	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F	BAI2_ENST00000440175.2_Missense_Mutation_p.S74F|BAI2_ENST00000398538.1_Missense_Mutation_p.S420F|BAI2_ENST00000398556.3_Missense_Mutation_p.S380F|BAI2_ENST00000527361.1_Missense_Mutation_p.S432F|BAI2_ENST00000398542.1_Missense_Mutation_p.S365F|BAI2_ENST00000257070.4_Missense_Mutation_p.S432F|BAI2_ENST00000398547.1_Missense_Mutation_p.S365F|BAI2_ENST00000373655.2_Missense_Mutation_p.S432F	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	432	TSP type-1 3.				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		ACAGGACGTGGAGCATGGGCC	0.662000													23	25					0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25334156	25334156	+	Silent	SNP	C	C	T	rs138723870		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25334156C>T	ENST00000407886.1	-	3	339	c.87G>A	c.(85-87)agG>agA	p.R29R	TMEM211_ENST00000382744.1_Silent_p.R29R|TMEM211_ENST00000423535.1_Silent_p.R100R			Q6ICI0	TM211_HUMAN	transmembrane protein 211	100						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CACTGCTTCTCCTTGGGCACA	0.527000													19	50					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639308	7639308	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7639308C>T	ENST00000359156.4	-	10	2447	c.2245G>A	c.(2245-2247)Gac>Aac	p.D749N	CD163_ENST00000541972.1_Missense_Mutation_p.D737N|CD163_ENST00000396620.3_Missense_Mutation_p.D782N|CD163_ENST00000432237.2_Missense_Mutation_p.D749N	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	749	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TCACTCAGGTCCCAGCTGTCA	0.562000													30	103					0	0	1	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47126745	47126745	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:47126745C>G	ENST00000290341.3	+	15	2007	c.1673C>G	c.(1672-1674)gCc>gGc	p.A558G	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A419G	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	558	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACATCCTGGCCCAGGTTAAG	0.582000													18	26					0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41704620	41704620	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41704620G>A	ENST00000310054.4	+	5	877	c.661G>A	c.(661-663)Gag>Aag	p.E221K	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	221					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						ACAGACCTACGAGATGTTCTC	0.627000													23	104					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37603281	37603281	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:37603281G>A	ENST00000399151.3	+	14	2284	c.2199G>A	c.(2197-2199)gaG>gaA	p.E733E		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	733					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGATGTTGAGAAGGTGGTCA	0.582000													21	60					0	0	1	0	0
GDAP2	54834	broad.mit.edu	37	1	118424453	118424453	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:118424453G>A	ENST00000369443.4	-	12	1543	c.1294C>T	c.(1294-1296)Cgt>Tgt	p.R432C	GDAP2_ENST00000369442.3_Missense_Mutation_p.R432C	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2	432	CRAL-TRIO.									kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ACCTTTGAACGAAATGTGGGA	0.328000													16	77					0	0	1	0	0
TMC1	117531	broad.mit.edu	37	9	75407221	75407221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:75407221C>T	ENST00000297784.5	+	17	2059	c.1519C>T	c.(1519-1521)Cct>Tct	p.P507S	TMC1_ENST00000396237.3_Missense_Mutation_p.P507S|TMC1_ENST00000340019.3_Missense_Mutation_p.P507S|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	507					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTTTGTTCACCCTGCAGATGT	0.438000													80	18					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220354280	220354280	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:220354280G>A	ENST00000312358.7	+	36	8672	c.8540G>A	c.(8539-8541)cGa>cAa	p.R2847Q	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2847	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACCCCTCCACGAAGACACAGG	0.662000													12	39					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30779804	30779804	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30779804C>A	ENST00000324685.6	+	13	2367	c.1932C>A	c.(1930-1932)acC>acA	p.T644T	RNF40_ENST00000357890.5_Silent_p.T544T|RNF40_ENST00000402121.3_Silent_p.T336T|RNF40_ENST00000563683.1_Silent_p.T604T	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586.1	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	644					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			TGGAAGAAACCAAGCGGAAGG	0.602000													15	51					1.3612e-06	1.3662e-06	1	1	0
CABP4	57010	broad.mit.edu	37	11	67223038	67223038	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67223038C>T	ENST00000325656.5	+	1	221	c.144C>T	c.(142-144)ctC>ctT	p.L48L	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	48					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AGAGGGGGCTCCGAGGGTCTC	0.672000													6	21					0	0	1	0	0
SPDYC	387778	broad.mit.edu	37	11	64938924	64938924	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64938924C>T	ENST00000377185.2	+	2	235	c.153C>T	c.(151-153)ctC>ctT	p.L51L		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	51					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						ATGGGTTCCTCCGTTTTCGCC	0.617000													14	26					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166927016	166927016	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:166927016C>T	ENST00000271417.3	-	2	424	c.369G>A	c.(367-369)acG>acA	p.T123T	ILDR2_ENST00000469934.2_Silent_p.T123T|ILDR2_ENST00000529071.1_Silent_p.T123T|ILDR2_ENST00000528703.1_Silent_p.T123T|ILDR2_ENST00000529387.1_Silent_p.T123T|ILDR2_ENST00000526687.1_Silent_p.T123T|ILDR2_ENST00000525740.1_Silent_p.T123T	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	123	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CATGAACAATCGTGATCTCTC	0.448000													29	59					0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54139995	54139995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:54139995G>A	ENST00000401642.3	-	4	1442	c.1309C>T	c.(1309-1311)Cag>Tag	p.Q437*	SCFD2_ENST00000388940.4_Nonsense_Mutation_p.Q437*	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	437					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CAACATACCTGAAGAAGGAGC	0.423000													38	1					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	11364916	11364916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:11364916G>A	ENST00000304623.8	-	8	1453	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S	CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.P331S|CTNND2_ENST00000503622.1_Missense_Mutation_p.P85S|CTNND2_ENST00000359640.2_Missense_Mutation_p.P422S|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	422					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCATAGATGGGATCTATGTGG	0.602000													59	36					0	0	1	0	0
RASL10B	91608	broad.mit.edu	37	17	34062227	34062227	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:34062227C>T	ENST00000268864.3	+	2	401	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	8	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACCGGGTGGCCGTGCTGGGGG	0.692000													14	63					0	0	1	0	0
FKBP9L	360132	broad.mit.edu	37	7	55750512	55750512	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:55750512C>T	ENST00000455909.1	-	0	705					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						TGAATGTACTCTGAGAACTGG	0.542000													31	22					0	0	1	0	0
TRAF3IP3	80342	broad.mit.edu	37	1	209936438	209936438	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209936438G>A	ENST00000367024.1	+	6	1092		c.e6+1		TRAF3IP3_ENST00000010338.4_Splice_Site|TRAF3IP3_ENST00000367026.3_Splice_Site|TRAF3IP3_ENST00000367025.3_Splice_Site|TRAF3IP3_ENST00000400959.3_Splice_Site			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3							integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		TCTGGATAAGGTAAGCACATA	0.403000													26	17					0	0	1	0	0
TUB	7275	broad.mit.edu	37	11	8122132	8122132	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:8122132C>T	ENST00000305253.4	+	11	1605	c.1364C>T	c.(1363-1365)tCt>tTt	p.S455F	TUB_ENST00000534099.1_Missense_Mutation_p.S406F|TUB_ENST00000299506.2_Missense_Mutation_p.S400F	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	400					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GAGAGAGTCTCTATCCGCCCC	0.537000													9	36					0	0	1	0	0
LRRC7	57554	broad.mit.edu	37	1	70226005	70226005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:70226005G>A	ENST00000310961.5	+	4	551	c.133G>A	c.(133-135)Gag>Aag	p.E45K	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000370958.1_Missense_Mutation_p.E78K|LRRC7_ENST00000035383.5_Missense_Mutation_p.E40K			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	40						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGTGCCAAAGGAGGTCTTTAA	0.418000													12	1					0	0	1	0	0
PXN	5829	broad.mit.edu	37	12	120652729	120652729	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:120652729A>T	ENST00000397506.3	-	6	1666	c.613T>A	c.(613-615)Tcc>Acc	p.S205T	PXN_ENST00000424649.2_Missense_Mutation_p.S359T|PXN_ENST00000458477.2_Missense_Mutation_p.S226T|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000536957.1_Missense_Mutation_p.S391T|PXN_ENST00000267257.7_Missense_Mutation_p.S407T|PXN_ENST00000228307.7_Missense_Mutation_p.S393T			P49023	PAXI_HUMAN	paxillin	393					cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTTCCGGGATCCGATCTCC	0.607000													13	56					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921327	24921327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24921327C>T	ENST00000329468.2	+	1	787	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGCTCGGAACCCCCCGAGGTT	0.677000													9	42					0	0	1	0	0
RASGEF1B	153020	broad.mit.edu	37	4	82380646	82380646	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:82380646G>A	ENST00000436139.2	-	2	143	c.17C>T	c.(16-18)cCc>cTc	p.P6L	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.P6L|RASGEF1B_ENST00000264400.2_Missense_Mutation_p.P6L|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.P6L			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	6					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						TGCTGAAAAGGGAGGAGTCTG	0.393000													29	47					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166201246	166201246	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166201246C>T	ENST00000357398.3	+	16	3034	c.2744C>T	c.(2743-2745)tCc>tTc	p.S915F	SCN2A_ENST00000375427.2_Missense_Mutation_p.S915F|SCN2A_ENST00000283256.6_Missense_Mutation_p.S915F|SCN2A_ENST00000375437.2_Missense_Mutation_p.S915F			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	915					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGCAAGATTTCCAATGATTGT	0.488000													38	89					0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882400	152882400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152882400C>T	ENST00000368764.3	+	2	191	c.127C>T	c.(127-129)Cca>Tca	p.P43S	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	43					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTGCCTCCCCCATGCCAGAA	0.552000													45	48					0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9313035	9313035	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:9313035G>A	ENST00000261336.2	-	24	2952	c.2924C>T	c.(2923-2925)cCa>cTa	p.P975L	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Missense_Mutation_p.P761L	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						ACAGCCATATGGCATCTGGAG	0.403000													14	71					0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28605833	28605833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28605833C>T	ENST00000434452.1	-	5	677	c.523G>A	c.(523-525)Gga>Aga	p.G175R	DSC3_ENST00000360428.4_Missense_Mutation_p.G175R	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	175	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ACTCCACGTCCACTTATTGAG	0.318000													9	22					0	0	1	0	0
PNKD	25953	broad.mit.edu	37	2	219204827	219204827	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219204827C>T	ENST00000273077.4	+	4	479	c.428C>T	c.(427-429)gCt>gTt	p.A143V	AC021016.8_ENST00000411433.1_RNA|PNKD_ENST00000436005.2_Missense_Mutation_p.A83V|PNKD_ENST00000258362.3_Missense_Mutation_p.A119V	NM_015488.4	NP_056303.3	Q8N490	PNKD_HUMAN	paroxysmal nonkinesigenic dyskinesia	143						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCAGCTGGCTGTGGCTGTG	0.637000													25	54					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38295502	38295502	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:38295502C>T	ENST00000553443.1	+	28	5077	c.5077C>T	c.(5077-5079)Cag>Tag	p.Q1693*	TTC6_ENST00000476979.1_Nonsense_Mutation_p.Q327*|TTC6_ENST00000267368.7_Nonsense_Mutation_p.Q327*|TTC6_ENST00000382320.3_Nonsense_Mutation_p.Q407*					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		GGTCTGTCTTCAGATGGGTAA	0.368000													25	38					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491497	103491497	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:103491497G>A	ENST00000358392.2	-	6	1109	c.792C>T	c.(790-792)tcC>tcT	p.S264S	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	264	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTGAAATTGGATTTCTTTT	0.343000													45	7					0	0	1	0	0
ADAM32	203102	broad.mit.edu	37	8	39091502	39091502	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39091502C>T	ENST00000379907.4	+	16	1846	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	ADAM32_ENST00000519315.1_Silent_p.F467F|ADAM32_ENST00000437682.2_Silent_p.F474F	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	573					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTATGCTTTCGTACGAGATT	0.393000													4	13					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729521	196729521	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196729521G>A	ENST00000312428.6	-	41	6958	c.6858C>T	c.(6856-6858)atC>atT	p.I2286I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2286					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCACATCTGCGATTTCTCTGT	0.378000													29	67					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66431055	66431055	+	Missense_Mutation	SNP	C	C	T	rs146580942	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:66431055C>T	ENST00000383703.3	-	19	3535	c.2932G>A	c.(2932-2934)Gat>Aat	p.D978N	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.D1001N			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1001						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGCATTCTATCGTGGTTACTG	0.537000													51	148					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55104010	55104010	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:55104010G>A	ENST00000491143.2	+	1	1094	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	354					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCCCCAGGCGATCTTTGCGC	0.602000													13	19					0	0	1	0	0
GRXCR2	643226	broad.mit.edu	37	5	145239420	145239420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:145239420C>T	ENST00000377976.1	-	3	622	c.623G>A	c.(622-624)tGc>tAc	p.C208Y		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	208										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GCACAGAGAGCAGGTGGCACT	0.552000													40	21					0	0	1	0	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716361	39716361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:39716361G>A	ENST00000553728.1	+	4	796	c.583G>A	c.(583-585)Gac>Aac	p.D195N	MIA2_ENST00000280082.3_Missense_Mutation_p.D195N|MIA2_ENST00000556784.1_Missense_Mutation_p.D194N																							TGAATCAAAAGACTGGGAAGA	0.418000													15	44					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81110906	81110906	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:81110906C>T	ENST00000228644.3	+	1	216	c.64C>T	c.(64-66)Ccg>Tcg	p.P22S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	22					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTCCTGCATACCGTCCCCCGA	0.617000													13	36					0	0	1	0	0
FAM194A	131831	broad.mit.edu	37	3	150421572	150421572	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:150421572C>T	ENST00000295910.6	-	1	166	c.114G>A	c.(112-114)gaG>gaA	p.E38E	FAM194A_ENST00000491361.1_Intron|RP11-103G8.2_ENST00000471093.1_RNA	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	38	Glu-rich.									NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ccacctcttcctcctcctcct	0.627000													3	19					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058339	11058339	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:11058339G>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															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)		AGGGGTAAAGGAGAGAAATCT	0.368000													4	98					0	0	1	0	0
LIX1L	128077	broad.mit.edu	37	1	145492339	145492339	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:145492339C>T	ENST00000369308.3	+	3	635	c.561C>T	c.(559-561)atC>atT	p.I187I	RP11-315I20.1_ENST00000595518.1_RNA|RP11-315I20.1_ENST00000600340.1_RNA|RP11-315I20.1_ENST00000598103.1_RNA|RP11-315I20.1_ENST00000598354.1_RNA|RP11-315I20.1_ENST00000599469.1_RNA|RP11-315I20.1_ENST00000437207.1_RNA|RP11-315I20.1_ENST00000597144.1_RNA	NM_153713.1	NP_714924.1	Q8IVB5	LIX1L_HUMAN	Lix1 homolog (mouse)-like	187										large_intestine(4)|lung(6)|ovary(2)|skin(1)	13	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGAGTTCATCGAGAAGAGTG	0.493000													30	105					0	0	1	0	0
OR51V1	283111	broad.mit.edu	37	11	5221857	5221857	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5221857C>T	ENST00000321255.1	-	1	73	c.74G>A	c.(73-75)gGa>gAa	p.G25E		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G25E(1)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCAGAAAATCCAGTGAGAAG	0.438000													16	62					0	0	1	0	0
CCDC170	80129	broad.mit.edu	37	6	151859387	151859387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:151859387G>A	ENST00000367290.5	+	3	483	c.394G>A	c.(394-396)Gag>Aag	p.E132K	CCDC170_ENST00000544131.1_3'UTR|CCDC170_ENST00000239374.7_Missense_Mutation_p.E132K			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	132																	TGCAATCAAGGAGAACCAGGA	0.358000													9	14					0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968622	72968622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72968622G>A	ENST00000311755.3	-	3	617	c.94C>T	c.(94-96)Cca>Tca	p.P32S						HIG1 hypoxia inducible domain family, member 2B																		AAACCCTCTGGATTGCTGTAA	0.577000													6	6					0	0	1	0	0
TMEM74	157753	broad.mit.edu	37	8	109796959	109796959	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:109796959C>T	ENST00000297459.3	-	2	547	c.369G>A	c.(367-369)cgG>cgA	p.R123R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	123					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			AGCTCCGGTTCCGCTGCTCCA	0.473000													23	57					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370067	56370067	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56370067G>A	ENST00000301295.6	+	3	1730	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	NLRP4_ENST00000587891.1_Silent_p.K361K|NLRP4_ENST00000346986.5_Silent_p.K436K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	436	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGGGCACCAAGATACTTCTGA	0.537000													29	91					0	0	1	0	0
PCED1B	91523	broad.mit.edu	37	12	47629473	47629473	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:47629473C>T	ENST00000546455.1	+	4	1358	c.627C>T	c.(625-627)ttC>ttT	p.F209F	PCED1B_ENST00000432328.1_Silent_p.F209F					PC-esterase domain containing 1B																		AACATAACTTCGATGTACTGG	0.587000													4	21					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31014622	31014622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:31014622G>A	ENST00000409904.3	+	6	915	c.657G>A	c.(655-657)tgG>tgA	p.W219*	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000326139.2_Nonsense_Mutation_p.W283*|GHRHR_ENST00000409316.1_Missense_Mutation_p.D50N			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	283					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCTACTGGTGGATCATCAAAG	0.587000											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	76					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45130973	45130973	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:45130973G>A	ENST00000457685.2	-	6	2214	c.891C>T	c.(889-891)gcC>gcT	p.A297A	ZNF334_ENST00000347606.4_Silent_p.A335A|ZNF334_ENST00000593880.1_Silent_p.A358A			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GTTCAGCCAGGGCTGACTTCC	0.423000													18	96					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	71029486	71029486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:71029486C>T	ENST00000334414.6	-	2	460	c.416G>A	c.(415-417)gGa>gAa	p.G139E	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.G138E|PTPRB_ENST00000550358.1_Missense_Mutation_p.G139E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GACCAGTTTTCCCTCCTTGTT	0.413000													24	38					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49736478	49736478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:49736478C>T	ENST00000327697.6	+	10	848	c.704C>T	c.(703-705)cCa>cTa	p.P235L	RNF123_ENST00000432042.1_Missense_Mutation_p.P89L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	235	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTACTTCCCAGCCATCAGC	0.562000													36	64					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9324970	9324970	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9324970C>T	ENST00000308682.2	-	1	572	c.544G>A	c.(544-546)Gct>Act	p.A182T		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						AGGACCTGAGCCGGTTCACAG	0.498000													29	67					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140174612	140174612	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140174612C>T	ENST00000526136.1	+	1	63	c.63C>T	c.(61-63)ctC>ctT	p.L21L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.L21L|PCDHA2_ENST00000520672.2_Silent_p.L21L|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTGCTCCTCGCAGCCTGGG	0.622000													54	21					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10830879	10830879	+	Translation_Start_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:10830879C>T	ENST00000313243.2	-	2	385	c.3G>A	c.(1-3)atG>atA	p.M1I	MAK_ENST00000354489.2_Start_Codon_SNP_p.M1I|RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_Start_Codon_SNP_p.M1I|MAK_ENST00000474039.1_Start_Codon_SNP_p.M1I|MAK_ENST00000536370.1_Start_Codon_SNP_p.M1I|SYCP2L_ENST00000543878.1_Intron			P20794	MAK_HUMAN	male germ cell-associated kinase	1					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				TGTATCGGTTCATCTTGGAAA	0.418000													16	90					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57865753	57865753	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57865753C>T	ENST00000228682.2	+	12	3321	c.3230C>T	c.(3229-3231)cCc>cTc	p.P1077L	GLI1_ENST00000543426.1_Missense_Mutation_p.P949L|GLI1_ENST00000546141.1_Missense_Mutation_p.P1036L	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	1077					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			ACCCCACCTCCCTCTGGGCCC	0.562000													19	121					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41111009	41111009	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41111009G>T	ENST00000308370.7	+	5	520	c.520G>T	c.(520-522)Gac>Tac	p.D174Y	LTBP4_ENST00000396819.3_Missense_Mutation_p.D107Y|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.D137Y|LTBP4_ENST00000545697.1_5'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	174	EGF-like 1.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTCCCCCGGACTTCGCTGG	0.667000													5	31					3.59834e-05	3.60824e-05	1	1	0
HCLS1	3059	broad.mit.edu	37	3	121354633	121354633	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121354633C>T	ENST00000314583.3	-	9	731	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	HCLS1_ENST00000428394.2_Missense_Mutation_p.E177K|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	214					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		GCCTCCATTTCATTGAAGCCG	0.567000													27	61					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83992993	83992993	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:83992993C>T	ENST00000343939.2	+	4	828	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L	OSGIN1_ENST00000361711.3_Silent_p.L66L|OSGIN1_ENST00000393306.1_Silent_p.L66L|OSGIN1_ENST00000565123.1_Silent_p.L66L			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	149					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTCTCCATCCTGGACCAGGT	0.607000													6	8					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14755050	14755050	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:14755050C>T	ENST00000253673.5	-	9	1020	c.920G>A	c.(919-921)tGg>tAg	p.W307*	EMR3_ENST00000599900.1_Nonsense_Mutation_p.W92*|EMR3_ENST00000344373.4_Nonsense_Mutation_p.W255*|EMR3_ENST00000443157.2_Nonsense_Mutation_p.W181*	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	307	GPS.				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.W307*(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TGTGCTCTTCCAGTAGACACA	0.453000													41	35					0	0	1	0	0
TMPRSS11F	389208	broad.mit.edu	37	4	68934444	68934444	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:68934444C>T	ENST00000356291.2	-	7	706	c.647G>A	c.(646-648)gGg>gAg	p.G216E	RP11-453E17.1_ENST00000500538.2_RNA|RP11-453E17.1_ENST00000511571.1_RNA|RP11-453E17.1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	216	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TGGCCATTCCCCTTCCATAGC	0.527000													19	21					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39225806	39225806	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39225806G>A	ENST00000340369.3	-	2	5359	c.5131C>T	c.(5131-5133)Cac>Tac	p.H1711Y	XIRP1_ENST00000421646.1_Missense_Mutation_p.H394Y|XIRP1_ENST00000396251.1_3'UTR	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1711	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCTTTCTGGTGGAGCAGGGCC	0.572000													40	66					0	0	1	0	0
IGHV6-1	28385	broad.mit.edu	37	14	106405885	106405885	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106405885C>T	ENST00000390593.2	-	0	140																											CTTCACCAGTCCTGGACCTGA	0.552000													15	25					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793595	100793595	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:100793595G>C	ENST00000361529.3	+	4	293	c.215G>C	c.(214-216)gGc>gCc	p.G72A	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	72					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GTGTCTTTTGGCACCTACCGC	0.657000													46	61					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166892614	166892614	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166892614C>T	ENST00000423058.2	-	16	3390	c.3373G>A	c.(3373-3375)Gaa>Aaa	p.E1125K	SCN1A_ENST00000409050.1_Missense_Mutation_p.E1097K|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.E1114K|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1125K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1125						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTAAATTTTCAAAGTCAGAT	0.343000													25	71					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156632249	156632249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:156632249G>A	ENST00000296518.7	+	6	1141	c.932G>A	c.(931-933)aGg>aAg	p.R311K	GUCY1A3_ENST00000393832.3_Missense_Mutation_p.R53K|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.R311K|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.R311K|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.R311K|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.R311K|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.R311K			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	311					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTGATGAACAGGAGAGACTTT	0.383000													17	38					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79689863	79689863	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:79689863C>T	ENST00000261205.4	+	7	1146	c.489C>T	c.(487-489)atC>atT	p.I163I	SYT1_ENST00000393240.3_Silent_p.I163I|SYT1_ENST00000457153.2_Silent_p.I160I|SYT1_ENST00000552744.1_Silent_p.I163I	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	163	C2 1.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TGGTAGGGATCATTCAGGCTG	0.428000													16	52					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22169793	22169793	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:22169793G>A	ENST00000374695.3	-	66	8834	c.8755C>T	c.(8755-8757)Cct>Tct	p.P2919S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2919	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CACTCACCAGGAATGGGTCCT	0.622000													31	22					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76730164	76730164	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:76730164A>T	ENST00000538159.1	+	22	2462	c.2462A>T	c.(2461-2463)cAg>cTg	p.Q821L	USO1_ENST00000514213.2_Missense_Mutation_p.Q797L			O60763	USO1_HUMAN	USO1 vesicle transport factor	812					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACCAAACTACAGACAGAAAAG	0.333000													10	9					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323235	29323235	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29323235G>A	ENST00000377154.1	-	4	1037	c.738C>T	c.(736-738)gcC>gcT	p.A246A	OR5V1_ENST00000543825.1_Silent_p.A246A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GAAAGACAATGGCCAGGTGGG	0.443000													26	60					0	0	1	0	0
GPRIN1	114787	broad.mit.edu	37	5	176026556	176026556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:176026556G>A	ENST00000303991.4	-	2	457	c.280C>T	c.(280-282)Ccc>Tcc	p.P94S		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	94						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGGGGAGGGGCAGGCCAGG	0.647000													62	15					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565154	58565154	+	Missense_Mutation	SNP	C	C	T	rs143175520		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58565154C>T	ENST00000282326.1	+	6	1209	c.962C>T	c.(961-963)cCg>cTg	p.P321L		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P321Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGCCCTTTCCGTGCCCCGAG	0.632000													28	33					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	540746	540746	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:540746G>A	ENST00000270115.7	+	4	562	c.62G>A	c.(61-63)cGg>cAg	p.R21Q		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	21								p.R21L(1)		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)		GTCCGGGTGCGGGAGCTGAGC	0.637000													7	33					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215818600	215818600	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:215818600C>T	ENST00000272895.7	-	44	6844	c.6625G>A	c.(6625-6627)Gaa>Aaa	p.E2209K	ABCA12_ENST00000389661.4_Missense_Mutation_p.E1891K|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2209					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ATCAGGGATTCGTTGATTAAG	0.348000													6	17					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77885818	77885818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:77885818G>A	ENST00000354212.4	-	10	1742	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	MAGI2_ENST00000536571.1_Missense_Mutation_p.P329S|MAGI2_ENST00000522391.1_Missense_Mutation_p.P497S|MAGI2_ENST00000535697.1_Missense_Mutation_p.P334S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P497S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	497	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TGACCAATAGGAACAGACTGG	0.433000													23	16					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664574	169664574	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169664574G>A	ENST00000483289.2	-	0	2720				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CCTCACTTTGGATGTGTGACA	0.527000													17	3					0	0	1	0	0
CCL14	6358	broad.mit.edu	37	17	34313636	34313636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:34313636G>A	ENST00000591669.1	+	2	208	c.82G>A	c.(82-84)Gcg>Acg	p.A28T	CCL15-CCL14_ENST00000481427.2_3'UTR|CTB-186H2.3_ENST00000593057.1_Intron|CCL14_ENST00000536149.1_Missense_Mutation_p.A17V|CCL14_ENST00000394509.4_Missense_Mutation_p.A17V|CCL14_ENST00000586216.1_Missense_Mutation_p.A17V|CCL14_ENST00000435911.2_Missense_Mutation_p.A17V|CCL14_ENST00000480944.2_5'UTR																							GGTCCCTAGGGCGATGGTGAT	0.562000													15	52					0	0	1	0	0
PI4KA	5297	broad.mit.edu	37	22	21107308	21107308	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:21107308G>A	ENST00000255882.6	-	25	2956	c.2870C>T	c.(2869-2871)aCc>aTc	p.T957I	PI4KA_ENST00000572273.1_Missense_Mutation_p.T899I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	899					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GTTCTCCTTGGTCTTGGCCTA	0.532000													23	254					0	0	1	0	0
GPR63	81491	broad.mit.edu	37	6	97247344	97247344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:97247344C>T	ENST00000229955.3	-	2	609	c.264G>A	c.(262-264)atG>atA	p.M88I	GPR63_ENST00000417980.1_Missense_Mutation_p.M88I	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	88						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GAATGAATATCATTATAGCAG	0.433000													11	20					0	0	1	0	0
TCL1A	8115	broad.mit.edu	37	14	96180332	96180332	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96180332G>A	ENST00000402399.1	-	1	201	c.72C>T	c.(70-72)ttC>ttT	p.F24F	RP11-164H13.1_ENST00000547644.2_RNA|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000556450.1_Silent_p.F24F|TCL1A_ENST00000554012.1_Silent_p.F24F|TCL1A_ENST00000555202.1_Silent_p.F24F	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	24					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		CCAAATACACGAACTTCTCCC	0.657000			T	TRA@	T-CLL								43	69					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086354	55086354	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55086354C>T	ENST00000251377.3	+	5	642	c.509C>T	c.(508-510)tCc>tTc	p.S170F	LILRA2_ENST00000391738.3_Missense_Mutation_p.S170F|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000251376.3_Missense_Mutation_p.S170F|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.S158F|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		AACTCCCATTCCCATGCCCGT	0.582000													63	73					0	0	1	0	0
ECT2	1894	broad.mit.edu	37	3	172537976	172537976	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:172537976C>T	ENST00000417960.1	+	25	3075	c.2598C>T	c.(2596-2598)ttC>ttT	p.F866F	ECT2_ENST00000540509.1_Silent_p.F898F|ECT2_ENST00000392692.3_Silent_p.F898F|ECT2_ENST00000441497.2_Silent_p.F867F|ECT2_ENST00000232458.5_Silent_p.F867F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	867					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTCCTTCCTTCTTTGAAAGGA	0.318000													11	40					0	0	1	0	0
LINC00639	283547	broad.mit.edu	37	14	39304838	39304838	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:39304838G>A	ENST00000553932.1	-	0	3724																											CTTTTCAGAGGAAGAAACCCT	0.483000													7	16					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	31010144	31010144	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31010144G>A	ENST00000295055.8	-	2	224	c.48C>T	c.(46-48)ttC>ttT	p.F16F	CAPN13_ENST00000534090.2_Silent_p.F16F|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	16					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCTGGTCTTTGAACTTGATGA	0.507000													25	13					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109795155	109795155	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:109795155C>A	ENST00000271332.3	+	1	2515	c.2454C>A	c.(2452-2454)gaC>gaA	p.D818E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	818	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCCTGCGAGACTCCTACCAGG	0.542000													105	157					6.23761e-45	6.32907e-45	1	1	0
KIAA1244	57221	broad.mit.edu	37	6	138584480	138584480	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:138584480G>A	ENST00000251691.4	+	12	2026	c.1860G>A	c.(1858-1860)aaG>aaA	p.K620K		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	620	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CAGCAGAAAAGGACTCGGGCA	0.522000													39	65					0	0	1	0	0
OR5K2	402135	broad.mit.edu	37	3	98217005	98217005	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:98217005G>A	ENST00000427338.1	+	1	558	c.481G>A	c.(481-483)Ggg>Agg	p.G161R	CLDND1_ENST00000502288.1_3'UTR	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATTCATGTAGGGCTTGTATT	0.428000													30	98					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122825462	122825462	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:122825462T>C	ENST00000358808.2	-	10	2410	c.2256A>G	c.(2254-2256)acA>acG	p.T752T	CLIP1_ENST00000540338.1_Silent_p.T763T|CLIP1_ENST00000361654.4_Intron|CLIP1_ENST00000302528.7_Silent_p.T752T|CLIP1_ENST00000545889.1_Intron|CLIP1_ENST00000537178.1_Silent_p.T717T	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	763					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TGAGCTGTGATGTAAAATTAT	0.398000													89	93					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140941380	140941380	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140941380C>T	ENST00000277549.5	+	22	3583	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	CACNA1B_ENST00000277551.2_Silent_p.I1146I|CACNA1B_ENST00000371363.1_Silent_p.I1146I|CACNA1B_ENST00000371355.4_Silent_p.I1147I|CACNA1B_ENST00000371357.1_Silent_p.I1147I|CACNA1B_ENST00000371372.1_Silent_p.I1146I|CACNA1B_ENST00000545473.1_Silent_p.I172I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1146					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCACTACATCGTGACCATGA	0.657000													5	10					0	0	1	0	0
MIR7162	102466227	broad.mit.edu	37	15	62538816	62538816	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:62538816C>T	ENST00000570077.1	-	0	400																											TGCTCCACTTCGGAGGGCCCT	0.562000													7	3					0	0	1	0	0
NPHS1	4868	broad.mit.edu	37	19	36333307	36333307	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36333307C>T	ENST00000378910.5	-	18	2479	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	NPHS1_ENST00000353632.6_Missense_Mutation_p.R827Q	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	827	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCAGCCGTCGTGCTGGAGG	0.592000													40	61					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64875963	64875963	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64875963C>T	ENST00000279281.3	+	5	1112	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	VPS51_ENST00000527646.1_3'UTR	NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		TGGCGGCCTTCGCCCGGCAGC	0.716000													7	18					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660517	77660517	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:77660517C>T	ENST00000296043.6	+	5	2144	c.1191C>T	c.(1189-1191)caC>caT	p.H397H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	397					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CATTTCGGCACCGTGAGCGGC	0.592000													11	44					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22364041	22364041	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22364041C>T	ENST00000397121.2	-	3	795	c.478G>A	c.(478-480)Gaa>Aaa	p.E160K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	160					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TAAATTCTTTCATGTTGAGAT	0.328000													39	24					0	0	1	0	0
NUP35	129401	broad.mit.edu	37	2	184025781	184025781	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:184025781G>A	ENST00000295119.4	+	9	1006		c.e9-1		NUP35_ENST00000409798.1_Splice_Site|NUP35_ENST00000541912.1_Splice_Site	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa						carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						TTTTTTAATAGGTTATTTCTG	0.353000													4	12					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124437846	124437846	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124437846G>A	ENST00000360013.3	+	60	8617	c.8490G>A	c.(8488-8490)caG>caA	p.Q2830Q	KALRN_ENST00000291478.4_Silent_p.Q1133Q|KALRN_ENST00000428018.2_Silent_p.Q1101Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2829	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATGCTGTCCAGATCTCGGGTC	0.552000													36	21					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701143	30701143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30701143C>T	ENST00000256246.2	-	1	5465	c.5391G>A	c.(5389-5391)atG>atA	p.M1797I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1797										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACAATGCTCCATTATGGCTT	0.323000													21	25					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42795507	42795507	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42795507C>T	ENST00000572681.2	+	11	5382	c.5314C>T	c.(5314-5316)Cgt>Tgt	p.R1772C	CIC_ENST00000160740.3_Missense_Mutation_p.R863C|CIC_ENST00000575354.2_Missense_Mutation_p.R863C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	863					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCAGCATCCGTTTCACCCT	0.692000			"""Mis, F, S"""		oligodendroglioma								27	12					0	0	1	0	0
KRT24	192666	broad.mit.edu	37	17	38856616	38856616	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38856616C>T	ENST00000264651.2	-	4	931	c.875G>A	c.(874-876)gGa>gAa	p.G292E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	292	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				TCCAGAGCTTCCTTGCATATT	0.463000													121	194					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828063	9828063	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:9828063G>A	ENST00000506583.1	-	14	1711	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SLC2A9_ENST00000309065.3_Silent_p.I498I|SLC2A9_ENST00000264784.3_Silent_p.I527I			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	527					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.I498I(1)|p.I527I(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CAGCTGAGTCGATTTTCTCTT	0.423000													35	38					0	0	1	0	0
MICALCL	84953	broad.mit.edu	37	11	12315464	12315464	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:12315464G>A	ENST00000256186.2	+	3	777	c.486G>A	c.(484-486)agG>agA	p.R162R		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	162					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		CTGGAGCCAGGAAGGAAGAAG	0.552000													25	37					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1216767	1216767	+	Missense_Mutation	SNP	C	C	T	rs142164435	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:1216767C>T	ENST00000304460.10	+	7	1038	c.982C>T	c.(982-984)Cgc>Tgc	p.R328C		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	328					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATTGGGTTCCGCGCCACACA	0.602000													11	45					0	0	1	0	0
TRIM37	4591	broad.mit.edu	37	17	57128577	57128577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:57128577C>T	ENST00000376149.3	-	14	1755	c.946G>A	c.(946-948)Gag>Aag	p.E316K	TRIM37_ENST00000393066.3_Missense_Mutation_p.E438K|TRIM37_ENST00000262294.7_Missense_Mutation_p.E438K|TRIM37_ENST00000393065.2_Missense_Mutation_p.E404K			O94972	TRI37_HUMAN	tripartite motif containing 37	438	MATH.					perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TTTCTTACCTCTTTAAGGTTG	0.308000									Mulibrey Nanism				14	25					0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	6006543	6006543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6006543C>T	ENST00000405415.1	-	2	591	c.205G>A	c.(205-207)Gat>Aat	p.D69N	RSPH10B_ENST00000441023.2_Missense_Mutation_p.D69N|RSPH10B_ENST00000337579.3_Missense_Mutation_p.D69N|RSPH10B_ENST00000404406.1_Missense_Mutation_p.D69N			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	69										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		TGGGTGGCATCTTCGTTCTGC	0.498000													38	175					0	0	1	0	0
C9orf171	389799	broad.mit.edu	37	9	135374956	135374956	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:135374956C>T	ENST00000343036.2	+	4	649	c.601C>T	c.(601-603)Cct>Tct	p.P201S	C9orf171_ENST00000393216.2_Missense_Mutation_p.P165S|C9orf171_ENST00000393215.3_Missense_Mutation_p.P165S	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	201										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GCCCCCTCTCCCTCCAAACAT	0.597000													20	19					0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119031635	119031635	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:119031635G>A	ENST00000307417.3	+	15	2124	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCG4_ENST00000449422.2_Missense_Mutation_p.R587Q|ABCG4_ENST00000531739.1_Missense_Mutation_p.R587Q	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	587	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCATGGAGCGAGGAGACCTG	0.567000													12	1					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066499	73066499	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73066499G>A	ENST00000429829.1	-	0	6089					NR_001564.2																						CTGCTGGAAGGGAAAAGTGGG	0.473000													19	28					0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26736439	26736439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26736439G>A	ENST00000529632.2	+	10	2249	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N	SEZ6L_ENST00000248933.6_Missense_Mutation_p.D685N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.D458N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D685N|SEZ6L_ENST00000403121.1_Missense_Mutation_p.D458N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D685N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D685N	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	685	CUB 3.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GACCATCTACGATGGCGACGA	0.517000													121	65					0	0	1	0	0
ARHGAP35	2909	broad.mit.edu	37	19	47503917	47503917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47503917C>T	ENST00000404338.3	+	6	4472	c.4472C>T	c.(4471-4473)tCc>tTc	p.S1491F		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1491	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTGCTTCCCTCCCAGCTTCAA	0.627000													4	5					0	0	1	0	0
SYNDIG1L	646658	broad.mit.edu	37	14	74874375	74874375	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74874375C>T	ENST00000331628.3	-	4	827	c.580G>A	c.(580-582)Ggg>Agg	p.G194R	SYNDIG1L_ENST00000554823.1_Missense_Mutation_p.G194R	NM_001105579.1	NP_001099049.1	A6NDD5	SYN1L_HUMAN	synapse differentiation inducing 1-like	194					response to biotic stimulus	Golgi apparatus|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(8)|pancreas(1)|prostate(1)|skin(1)	14						CGGAAGTCCCCTTTGGAGATG	0.667000													42	58					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2717743	2717743	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2717743G>A	ENST00000399655.1	+	27	3688	c.3423G>A	c.(3421-3423)gaG>gaA	p.E1141E	CACNA1C_ENST00000406454.3_Silent_p.E1141E|CACNA1C_ENST00000480911.1_Silent_p.E1141E|CACNA1C_ENST00000399637.1_Silent_p.E1141E|CACNA1C_ENST00000347598.4_Silent_p.E1161E|CACNA1C_ENST00000327702.7_Silent_p.E1141E|CACNA1C_ENST00000399606.1_Silent_p.E1161E|CACNA1C_ENST00000399601.1_Silent_p.E1141E|CACNA1C_ENST00000399644.1_Silent_p.E1141E|CACNA1C_ENST00000399641.1_Silent_p.E1141E|CACNA1C_ENST00000399649.1_Silent_p.E1141E|CACNA1C_ENST00000399603.1_Silent_p.E1141E|CACNA1C_ENST00000399595.1_Silent_p.E1141E|CACNA1C_ENST00000399634.1_Silent_p.E1141E|CACNA1C_ENST00000399617.1_Silent_p.E1141E|CACNA1C_ENST00000399638.1_Silent_p.E1141E|CACNA1C_ENST00000399591.1_Silent_p.E1141E|CACNA1C_ENST00000399629.1_Silent_p.E1141E|CACNA1C_ENST00000344100.3_Silent_p.E1141E|CACNA1C_ENST00000399597.1_Silent_p.E1141E|CACNA1C_ENST00000402845.3_Silent_p.E1141E|CACNA1C_ENST00000399621.1_Silent_p.E1141E|CACNA1C_ENST00000335762.5_Silent_p.E1166E	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1161	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	ACCGTGTGGAGatctccatct	0.542000													3	13					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40457329	40457329	+	Splice_Site	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:40457329A>T	ENST00000301825.3	+	7	715		c.e7-1		ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3_ENST00000445129.1_Splice_Site|ENTPD3_ENST00000456402.1_Splice_Site|ENTPD3-AS1_ENST00000439293.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3							integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		CCCACTGTGCAGAAGAACCTG	0.537000													20	10					0	0	1	0	0
OSMR	9180	broad.mit.edu	37	5	38883985	38883985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:38883985G>A	ENST00000274276.3	+	5	877	c.475G>A	c.(475-477)Gaa>Aaa	p.E159K	OSMR_ENST00000502536.1_Missense_Mutation_p.E159K	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	159					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TAAGCTGGTGGAAGAAGGCAC	0.353000													16	40					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112178722	112178722	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:112178722C>T	ENST00000457016.1	+	16	7811	c.7431C>T	c.(7429-7431)tcC>tcT	p.S2477S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S2477S|APC_ENST00000257430.4_Silent_p.S2477S			P25054	APC_HUMAN	adenomatous polyposis coli	2477	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACTAGGTCCCAGGCACAAA	0.458000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			15	43					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31024690	31024690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:31024690C>T	ENST00000375687.4	+	13	4599	c.4175C>T	c.(4174-4176)cCc>cTc	p.P1392L	ASXL1_ENST00000306058.5_Missense_Mutation_p.P1387L	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1392					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGCATAGTCCCCTGGAACTG	0.542000			"""F, N, Mis"""		"""MDS, CMML"""								55	64					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169701995	169701995	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169701995G>A	ENST00000333360.7	-	3	321	c.182C>T	c.(181-183)tCc>tTc	p.S61F	SELE_ENST00000367774.1_Missense_Mutation_p.S61F|SELE_ENST00000367779.4_Missense_Mutation_p.S61F|SELE_ENST00000367775.1_Missense_Mutation_p.S61F|SELE_ENST00000367776.1_Missense_Mutation_p.S61F|SELE_ENST00000367782.4_Missense_Mutation_p.S61F|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.S61F|SELE_ENST00000367780.4_Missense_Mutation_p.S61F|SELE_ENST00000367777.1_Missense_Mutation_p.S61F	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	61	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTCAATATGGAGTTTAGGTA	0.423000													51	63					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140263249	140263249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140263249G>A	ENST00000289272.2	+	1	1396	c.1396G>A	c.(1396-1398)Gaa>Aaa	p.E466K	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E466K|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCGTGAAGGAAAACAATCC	0.672000													23	96					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	5605784	5605784	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrY:5605784G>A	ENST00000215473.6	+	6	3824	c.3824G>A	c.(3823-3825)tGg>tAg	p.W1275*				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1275					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGCAAGGTTGGGTGCAAGGT	0.493000													67	102					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35806880	35806880	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35806880G>A	ENST00000440995.2	+	35	5067	c.5067G>A	c.(5065-5067)agG>agA	p.R1689R	SPEF2_ENST00000303129.4_Silent_p.R491R|SPEF2_ENST00000356031.3_Silent_p.R1694R|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1694					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGAAGAAAGGAAATTAAAAG	0.408000													18	11					0	0	1	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257607	36257607	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:36257607C>T	ENST00000296604.3	-	9	1206	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K	RANBP3L_ENST00000515759.1_Missense_Mutation_p.E241K|RANBP3L_ENST00000502994.1_Missense_Mutation_p.E266K	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	241					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			AATGGTTTTTCCTTGGCATAT	0.313000													31	9					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641161	179641161	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179641161C>T	ENST00000589042.1	-	28	5654	c.5430G>A	c.(5428-5430)agG>agA	p.R1810R	TTN_ENST00000342992.6_Silent_p.R1810R|TTN_ENST00000460472.2_Silent_p.R1764R|TTN_ENST00000359218.5_Silent_p.R1764R|TTN_ENST00000342175.6_Silent_p.R1764R|TTN_ENST00000360870.5_Silent_p.R1810R|TTN_ENST00000591111.1_Silent_p.R1810R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1547							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)			GTAAGCCTTTCCTCCCCTCAG	0.413000													24	64					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169787182	169787182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169787182C>T	ENST00000263817.6	-	25	3528	c.3404G>A	c.(3403-3405)gGg>gAg	p.G1135E		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1135	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TACCACCTTCCCTTGATCAGG	0.473000													11	18					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44713500	44713500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44713500G>A	ENST00000222673.5	+	6	790	c.748G>A	c.(748-750)Gag>Aag	p.E250K	OGDH_ENST00000444676.1_Missense_Mutation_p.E265K|OGDH_ENST00000449767.1_Missense_Mutation_p.E246K|OGDH_ENST00000443864.2_Missense_Mutation_p.E250K|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000459672.1_3'UTR|OGDH_ENST00000543843.1_Missense_Mutation_p.E201K|OGDH_ENST00000447398.1_Missense_Mutation_p.E261K	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	250					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CACAAATGAGGAGAAACGGAC	0.577000													12	98					0	0	1	0	0
KAT6A	7994	broad.mit.edu	37	8	41844996	41844996	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:41844996G>A	ENST00000396930.3	-	4	1229	c.686C>T	c.(685-687)tCc>tTc	p.S229F	KAT6A_ENST00000406337.1_Missense_Mutation_p.S229F|KAT6A_ENST00000265713.2_Missense_Mutation_p.S229F|KAT6A_ENST00000485568.1_Missense_Mutation_p.S229F	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	229					histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GTCGGCACAGGAGATGAGTTC	0.423000													63	109					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113442792	113442792	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113442792C>T	ENST00000392583.2	+	7	1440	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	OAS2_ENST00000342315.4_Silent_p.L411L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	411	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.L411L(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ATGCCGATCTCGTCGTGTTCC	0.478000													27	41					0	0	1	0	0
MOG	4340	broad.mit.edu	37	6	29638061	29638061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29638061C>T	ENST00000376894.4	+	6	714	c.596C>T	c.(595-597)cCc>cTc	p.P199L	MOG_ENST00000376902.3_3'UTR|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000396704.3_Intron|MOG_ENST00000376917.3_Missense_Mutation_p.P199L|MOG_ENST00000396701.2_Intron|MOG_ENST00000416766.2_Missense_Mutation_p.P161L|MOG_ENST00000494692.1_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000376898.3_Missense_Mutation_p.P199L|MOG_ENST00000376891.4_Intron|MOG_ENST00000376888.2_Missense_Mutation_p.P83L|MOG_ENST00000490427.1_Intron			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	199					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						AATTCAGATCCCCACTTTCTG	0.493000													31	121					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5529724	5529724	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5529724G>A	ENST00000311659.4	-	2	1212	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	355										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTTCCTAGGGACTGGGGGT	0.493000													45	143					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140223218	140223218	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:140223218C>T	ENST00000275884.6	-	16	2971	c.2554G>A	c.(2554-2556)Gat>Aat	p.D852N	DENND2A_ENST00000537639.1_Missense_Mutation_p.D852N|DENND2A_ENST00000496613.1_Missense_Mutation_p.D852N			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	852										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GAGTCCTCATCGTCCATCTGG	0.607000													5	23					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58491212	58491212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58491212G>A	ENST00000341164.4	-	7	1456	c.836C>T	c.(835-837)cCt>cTt	p.P279L	ZNF606_ENST00000536132.1_Missense_Mutation_p.P189L	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TATTCTTGCAGGGTAAATAGG	0.323000													22	81					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477636	42477636	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42477636G>A	ENST00000434000.1	-	9	1857	c.1575C>T	c.(1573-1575)ctC>ctT	p.L525L	GPATCH8_ENST00000591680.1_Silent_p.L603L			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	603						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CTAGGCCTTGGAGATGGTCCT	0.443000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	67					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891644	6891644	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6891644G>A	ENST00000307322.4	+	1	721	c.659G>A	c.(658-660)gGg>gAg	p.G220E		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TCAGCTAAAGGGAAGAATAAA	0.433000													35	123					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7755556	7755556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7755556G>A	ENST00000254846.5	+	19	4759	c.4370G>A	c.(4369-4371)cGa>cAa	p.R1457Q	KDM6B_ENST00000448097.2_Missense_Mutation_p.R1457Q	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1457	JmjC.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TTCGTGCAGCGACCCGGAGAC	0.612000											OREG0024145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	30					0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39299478	39299478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39299478C>T	ENST00000307751.4	-	3	722	c.245G>A	c.(244-246)gGg>gAg	p.G82E	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	82	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			GCCCCACTTCCCGCCCTGCAA	0.582000													21	51					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58189901	58189901	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58189901C>T	ENST00000302581.2	-	1	885	c.834G>A	c.(832-834)atG>atA	p.M278I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGGGGATGATCATAGCATAGA	0.453000													32	40					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156136012	156136012	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:156136012C>T	ENST00000329476.3	+	2	1410	c.921C>T	c.(919-921)ttC>ttT	p.F307F	NPY2R_ENST00000506608.1_Silent_p.F307F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	307					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				AACTCATCTTCACAGTGTTCC	0.532000													26	51					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142458423	142458423	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142458423G>A	ENST00000486171.1	+	2	75	c.58G>A	c.(58-60)Gat>Aat	p.D20N	PRSS1_ENST00000311737.7_Missense_Mutation_p.D20N			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	20					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCCCTTTGATGATGATGACAA	0.527000													47	171					0	0	1	0	0
CYP2B7P	1556	broad.mit.edu	37	19	41430260	41430260	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41430260G>A	ENST00000599198.1	+	0	137					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						AACTCCCATGGCACCCTCCCA	0.582000													24	66					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90406197	90406197	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:90406197G>A	ENST00000369393.3	-	60	9380	c.9265C>T	c.(9265-9267)Ccc>Tcc	p.P3089S	MDN1_ENST00000428876.1_Missense_Mutation_p.P3089S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3089					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAAGAATGGGGAGGCCACTC	0.517000													16	26					0	0	1	0	0
TRAV19	28664	broad.mit.edu	37	14	22476158	22476158	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22476158G>A	ENST00000390447.3	+	0	205																											AGCGCAGACTGAAATTTCTGT	0.413000													8	22					0	0	1	0	0
CPT1A	1374	broad.mit.edu	37	11	68566742	68566742	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68566742G>A	ENST00000265641.5	-	6	791	c.637C>T	c.(637-639)Ctt>Ttt	p.L213F	CPT1A_ENST00000540367.1_Missense_Mutation_p.L213F|CPT1A_ENST00000539743.1_Missense_Mutation_p.L213F|CPT1A_ENST00000376618.2_Missense_Mutation_p.L213F	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	213					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CTTGGTCCAAGACCGACAGCA	0.403000													11	51					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241099956	241099956	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:241099956G>A	ENST00000366565.1	-	5	658	c.277C>T	c.(277-279)Cca>Tca	p.P93S	RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Missense_Mutation_p.P93S|RGS7_ENST00000407727.1_Missense_Mutation_p.P93S|RGS7_ENST00000331110.7_Missense_Mutation_p.P67S|RGS7_ENST00000366563.1_Missense_Mutation_p.P93S|RGS7_ENST00000446183.2_Missense_Mutation_p.P9S|RGS7_ENST00000366562.4_Missense_Mutation_p.P93S|RGS7_ENST00000401882.1_Intron	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	93	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTGAGATTGGAAAGAAGTAG	0.383000													26	116					0	0	1	0	0
STAT6	6778	broad.mit.edu	37	12	57500318	57500318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57500318G>A	ENST00000300134.3	-	6	849	c.524C>T	c.(523-525)cCa>cTa	p.P175L	STAT6_ENST00000454075.3_Missense_Mutation_p.P175L|STAT6_ENST00000537215.2_Missense_Mutation_p.P65L|STAT6_ENST00000556155.1_Missense_Mutation_p.P175L|STAT6_ENST00000538913.2_Missense_Mutation_p.P65L|STAT6_ENST00000543873.2_Missense_Mutation_p.P175L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	175					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CACCTCACTTGGCCCAGTCCC	0.522000													13	51					0	0	1	0	0
PRR19	284338	broad.mit.edu	37	19	42813869	42813869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42813869C>T	ENST00000499536.2	+	1	944	c.133C>T	c.(133-135)Cct>Tct	p.P45S	PRR19_ENST00000598490.1_Missense_Mutation_p.P45S|PRR19_ENST00000341747.3_Missense_Mutation_p.P45S			A6NJB7	PRR19_HUMAN	proline rich 19	45										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CCACCACGATCCTCCTGTGGC	0.637000													32	67					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28983586	28983586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28983586G>A	ENST00000359747.4	+	11	1654	c.1625G>A	c.(1624-1626)aGa>aAa	p.R542K	DSG4_ENST00000308128.4_Missense_Mutation_p.R542K|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	542					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGGATGTCAGATCAACAAAT	0.368000													10	24					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107821574	107821574	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:107821574G>A	ENST00000328300.6	+	13	985	c.741G>A	c.(739-741)caG>caA	p.Q247Q	COL4A5_ENST00000361603.2_Silent_p.Q247Q	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	247	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCAGTGAACAGAAAAGACCAA	0.423000									Alport syndrome with Diffuse Leiomyomatosis				73	4					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16139753	16139753	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16139753C>T	ENST00000399408.2	+	9	1276	c.1101C>T	c.(1099-1101)acC>acT	p.T367T	ABCC1_ENST00000346370.5_Silent_p.T367T|ABCC1_ENST00000345148.5_Silent_p.T367T|ABCC1_ENST00000349029.5_Silent_p.T367T|ABCC1_ENST00000351154.5_Silent_p.T367T|ABCC1_ENST00000399410.3_Silent_p.T367T			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	367	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACTTCTACACCGTGCTGCTGT	0.547000											OREG0023639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	12					0	0	1	0	0
SLC1A6	6511	broad.mit.edu	37	19	15073080	15073080	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:15073080G>A	ENST00000598504.1	-	8	2028	c.669C>T	c.(667-669)tcC>tcT	p.S223S	SLC1A6_ENST00000430939.2_Silent_p.S159S|SLC1A6_ENST00000544886.2_Silent_p.S223S|SLC1A6_ENST00000600144.1_Silent_p.S223S|SLC1A6_ENST00000221742.3_Silent_p.S223S	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	223					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAGGAGGCATGGAGGCACCCG	0.562000													43	77					0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150390043	150390043	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150390043G>A	ENST00000223293.5	+	3	763	c.669G>A	c.(667-669)caG>caA	p.Q223Q		NM_015660.2	NP_056475.1	Q9UG22	GIMA2_HUMAN	GTPase, IMAP family member 2	223						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTAATACAGAGGTCTAAAT	0.403000													16	34					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86415921	86415921	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86415921C>T	ENST00000361669.2	+	3	1912	c.813C>T	c.(811-813)gtC>gtT	p.V271V	GRM3_ENST00000536043.1_Silent_p.V143V|GRM3_ENST00000439827.1_Silent_p.V271V|GRM3_ENST00000394720.2_Silent_p.V269V|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	271					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACGCGCGCGTCGTGGTCCTCT	0.657000													73	25					0	0	1	0	0
GLRA4	441509	broad.mit.edu	37	X	102974111	102974111	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:102974111G>A	ENST00000372617.4	-	7	1227	c.807C>T	c.(805-807)atC>atT	p.I269I		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	269						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ACAGGATGACGATGAGTAGGC	0.557000													48	54					0	0	1	0	0
ZNF638	27332	broad.mit.edu	37	2	71576895	71576895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:71576895C>T	ENST00000409544.1	+	2	1441	c.811C>T	c.(811-813)Caa>Taa	p.Q271*	ZNF638_ENST00000377802.2_Nonsense_Mutation_p.Q271*|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Nonsense_Mutation_p.Q271*|ZNF638_ENST00000264447.4_Nonsense_Mutation_p.Q271*	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	271					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CGTATTTCGCCAAATGGACTT	0.433000													24	138					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25430836	25430836	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:25430836C>T	ENST00000424208.1	+	0	582				SNORD115-9_ENST00000362912.1_RNA	NR_003305.1																						AAAAATCATGCTCAATAGGAT	0.498000													70	278					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40397974	40397974	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40397974G>A	ENST00000221347.6	-	14	7000	c.6993C>T	c.(6991-6993)gaC>gaT	p.D2331D		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2331						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACGACAGAAGTCCGGCCGCC	0.642000													16	68					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193182888	193182888	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:193182888G>A	ENST00000342695.4	-	12	1624	c.1302C>T	c.(1300-1302)gcC>gcT	p.A434A	ATP13A4_ENST00000295548.3_Silent_p.A434A|ATP13A4_ENST00000392443.3_Silent_p.A415A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	434					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGACGTCAAGGGCTTTCCTCA	0.478000													10	38					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55929392	55929392	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55929392C>T	ENST00000244728.5	-	24	2553	c.2156G>A	c.(2155-2157)gGa>gAa	p.G719E	COL21A1_ENST00000370808.2_Missense_Mutation_p.G119E|COL21A1_ENST00000535941.1_Missense_Mutation_p.G719E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G716E|COL21A1_ENST00000467045.1_5'UTR	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	719	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTGGAATTCCCTGTCTTCC	0.323000													3	4					0	0	1	0	0
SCARA5	286133	broad.mit.edu	37	8	27779759	27779759	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:27779759G>A	ENST00000354914.3	-	4	730	c.245C>T	c.(244-246)tCc>tTc	p.S82F	SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000524352.1_Missense_Mutation_p.S82F|SCARA5_ENST00000518030.1_Missense_Mutation_p.S39F|SCARA5_ENST00000301906.4_Missense_Mutation_p.S39F	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	82					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCGCGGCCTGGACACTGCGGA	0.647000													4	32					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48602520	48602520	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:48602520A>G	ENST00000340553.3	+	7	1495	c.1234A>G	c.(1234-1236)Aca>Gca	p.T412A		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	412					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TGGAATTCGTACATGTTTAGG	0.398000													7	40					0	0	1	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962703	69962703	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:69962703C>T	ENST00000305231.7	+	1	511	c.465C>T	c.(463-465)ccC>ccT	p.P155P	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.P155P	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	155					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTATTTTTCCCTGTAGTGAGC	0.353000													26	35					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150463097	150463097	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:150463097C>T	ENST00000369064.3	+	4	442	c.408C>T	c.(406-408)acC>acT	p.T136T	TARS2_ENST00000369054.2_Silent_p.T136T|TARS2_ENST00000438568.2_Intron|TARS2_ENST00000606933.1_Silent_p.T136T	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	136					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	ACTCCAGCACCCATGTCCTGG	0.483000													72	77					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127686624	127686624	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:127686624C>T	ENST00000508053.1	-	27	3722	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L	FBN2_ENST00000508989.1_Silent_p.L883L|FBN2_ENST00000262464.4_Silent_p.L916L			P35556	FBN2_HUMAN	fibrillin 2	916	TB 4.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTCAGATTTCAGAGTGGCTC	0.557000													20	41					0	0	1	0	0
DLG2	1740	broad.mit.edu	37	11	83497758	83497758	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:83497758C>T	ENST00000398309.2	-	13	1955	c.1485G>A	c.(1483-1485)acG>acA	p.T495T	DLG2_ENST00000330014.6_Silent_p.T434T|DLG2_ENST00000531015.1_Silent_p.T462T|DLG2_ENST00000280241.8_Silent_p.T534T|DLG2_ENST00000532653.1_Silent_p.T495T|DLG2_ENST00000376104.2_Silent_p.T600T|DLG2_ENST00000543673.1_Silent_p.T600T|DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000537455.1_Silent_p.T249T|DLG2_ENST00000398301.2_Silent_p.T534T|DLG2_ENST00000418306.2_Silent_p.T392T|DLG2_ENST00000524982.1_Silent_p.T495T	NM_001364.3	NP_001355.2	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	495	PDZ 3.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				GTGCTATAATCGTCACTGTCT	0.453000													13	39					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373957	126373957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126373957G>A	ENST00000394329.3	+	9	11799	c.11786G>A	c.(11785-11787)gGa>gAa	p.G3929E	FAT4_ENST00000335110.5_Missense_Mutation_p.G2227E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3929	EGF-like 3; calcium-binding (Potential).				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGCAAAACTGGATACACAGGT	0.383000													54	39					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40689425	40689425	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:40689425T>A	ENST00000225927.2	+	2	494	c.393T>A	c.(391-393)taT>taA	p.Y131*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	131						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	GGTACCGCTATTACCAGAATG	0.612000													71	55					0	0	1	0	0
TRIM67	440730	broad.mit.edu	37	1	231339623	231339623	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:231339623C>T	ENST00000444294.3	+	6	2397	c.1539C>T	c.(1537-1539)gtC>gtT	p.V513V	TRIM67_ENST00000449018.3_Silent_p.V453V|TRIM67_ENST00000366653.5_Silent_p.V515V|TRIM67_ENST00000366652.2_Silent_p.V515V	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	515	Fibronectin type-III.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TGCCACCCGTCCCCCTACTGC	0.677000													21	15					0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4736476	4736476	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:4736476G>A	ENST00000545990.2	-	5	2116	c.1592C>T	c.(1591-1593)gCc>gTc	p.A531V	AKAP3_ENST00000228850.1_Missense_Mutation_p.A531V	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	531					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CAGAAGCAGGGCAGACACGAT	0.512000													13	21					0	0	1	0	0
NXPH2	11249	broad.mit.edu	37	2	139428493	139428493	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:139428493C>T	ENST00000272641.3	-	2	900	c.794G>A	c.(793-795)tGa>tAa	p.*265*		NM_007226.2	NP_009157.1	O95156	NXPH2_HUMAN	neurexophilin 2	0					neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GCAGGAAGATCAGCCAGAAGA	0.388000													10	33					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49435259	49435259	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49435259G>A	ENST00000301067.7	-	31	6293	c.6294C>T	c.(6292-6294)gaC>gaT	p.D2098D		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGGCCGGTCGGTCAGTCTTAC	0.652000													23	61					0	0	1	0	0
CHD6	84181	broad.mit.edu	37	20	40050714	40050714	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40050714G>A	ENST00000373233.3	-	31	4738	c.4561C>T	c.(4561-4563)Cca>Tca	p.P1521S		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1521					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTGGTATCTGGGGGACCTGGA	0.517000													18	61					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49658204	49658204	+	Silent	SNP	C	C	T	rs74666147	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49658204C>T	ENST00000252825.4	-	1	477	c.291G>A	c.(289-291)aaG>aaA	p.K97K	HRC_ENST00000595625.1_Silent_p.K97K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	97					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GCCCATATTCCTTGGAGACAT	0.532000													51	59					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144235	33144235	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33144235C>T	ENST00000341947.2	-	27	2371	c.2144G>A	c.(2143-2145)gGa>gAa	p.G715E	COL11A2_ENST00000361917.1_Missense_Mutation_p.G608E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G655E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Missense_Mutation_p.G694E|COL11A2_ENST00000374713.1_Missense_Mutation_p.G668E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G689E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G634E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G629E	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	715	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCCTGGGTATCCTAGAGGTCC	0.567000													15	37					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152280124	152280124	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152280124G>A	ENST00000368799.1	-	3	7273	c.7238C>T	c.(7237-7239)tCt>tTt	p.S2413F	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2413	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTAGAGGAAAGACCCTGAACG	0.607000									Ichthyosis				109	186					0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176992577	176992577	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176992577G>A	ENST00000367654.2	-	7	1414	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	ASTN1_ENST00000424564.2_Silent_p.L467L|ASTN1_ENST00000361833.2_Silent_p.L467L|ASTN1_ENST00000367657.3_Silent_p.L467L|ASTN1_ENST00000281881.3_5'UTR			O14525	ASTN1_HUMAN	astrotactin 1	467	EGF-like 1.				cell migration|neuron cell-cell adhesion	integral to membrane		p.L467L(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGGGGTCCAGGAGCCGCCGGG	0.612000													3	21					0	0	1	0	0
OR11H12	440153	broad.mit.edu	37	14	19377812	19377812	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19377812C>T	ENST00000550708.1	+	1	291	c.219C>T	c.(217-219)ccC>ccT	p.P73P		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCACACTCCCATGTACATGT	0.413000													30	122					0	0	1	0	0
ANP32A	8125	broad.mit.edu	37	15	69080189	69080189	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:69080189C>A	ENST00000465139.2	-	2	267	c.124G>T	c.(124-126)Gaa>Taa	p.E42*	ANP32A_ENST00000560303.1_Nonsense_Mutation_p.E42*|ANP32A_ENST00000483551.2_5'UTR	NM_006305.3	NP_006296.1	P39687	AN32A_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member A	42					intracellular signal transduction|mRNA metabolic process|nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm	protein binding			endometrium(1)|large_intestine(1)|lung(2)	4						TCCAGTTCTTCAAATTCATCT	0.453000													75	51					2.26256e-52	2.29659e-52	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94049944	94049944	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:94049944G>A	ENST00000297268.6	+	37	2750	c.2279G>A	c.(2278-2280)gGa>gAa	p.G760E		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	760			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGCCCCGTTGGAGCTGCTGGC	0.512000										HNSCC(75;0.22)			8	5					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	343565	343565	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:343565G>A	ENST00000262320.3	-	8	2480	c.2109C>T	c.(2107-2109)ccC>ccT	p.P703P	AXIN1_ENST00000354866.3_Silent_p.P703P	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	703	Interaction with HIPK2 (By similarity).|Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGGGTTAGGGGGTTGGGAG	0.682000													42	105					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56385022	56385022	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56385022G>A	ENST00000355701.3	-	24	5803	c.4933C>T	c.(4933-4935)Cct>Tct	p.P1645S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P1645S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P1585S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1645	SH3 2.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCAGCATCAGGATTGGGCGAC	0.547000													9	43					0	0	1	0	0
BET1L	51272	broad.mit.edu	37	11	205475	205475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:205475G>A	ENST00000325147.9	-	3	364	c.304C>T	c.(304-306)Cct>Tct	p.P102S	BET1L_ENST00000382762.3_Intron|BET1L_ENST00000529614.2_Intron|BET1L_ENST00000410108.1_Intron|BET1L_ENST00000486280.1_Intron|BET1L_ENST00000332865.6_Intron			Q9NYM9	BET1L_HUMAN	Bet1 golgi vesicular membrane trafficking protein-like	0					protein transport|retrograde transport, endosome to Golgi	endosome|SNARE complex	SNAP receptor activity						all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GAGTCCTAAGGGAGGAATCCC	0.552000													25	23					0	0	1	0	0
OR10A6	390093	broad.mit.edu	37	11	7949407	7949407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7949407G>A	ENST00000309838.2	-	1	802	c.803C>T	c.(802-804)cCg>cTg	p.P268L		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTTGGTTTCCGGTGAGTAGCC	0.453000													11	52					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181767826	181767826	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181767826C>T	ENST00000526775.1	+	46	6777	c.6612C>T	c.(6610-6612)atC>atT	p.I2204I	CACNA1E_ENST00000367567.4_Silent_p.I1830I|CACNA1E_ENST00000367570.1_Silent_p.I2223I|CACNA1E_ENST00000367573.2_Silent_p.I2266I|CACNA1E_ENST00000357570.5_Silent_p.I2217I|CACNA1E_ENST00000360108.3_Silent_p.I2247I|CACNA1E_ENST00000358338.5_Silent_p.I2155I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2266					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CCAACACCATCGGCTCAGCCC	0.672000													14	13					0	0	1	0	0
OR7D4	125958	broad.mit.edu	37	19	9325100	9325100	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9325100G>A	ENST00000308682.2	-	1	442	c.414C>T	c.(412-414)ccC>ccT	p.P138P		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						CACAGAGGCAGGGGTTCATGA	0.512000													16	44					0	0	1	0	0
ADAM11	4185	broad.mit.edu	37	17	42855416	42855416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42855416G>A	ENST00000200557.6	+	24	2336	c.2167G>A	c.(2167-2169)Gag>Aag	p.E723K	ADAM11_ENST00000535346.1_Missense_Mutation_p.E523K	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	723					integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				ACCCACGGGGGAGACGGAGAG	0.597000													18	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179584073	179584073	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179584073G>A	ENST00000589042.1	-	83	24268	c.24044C>T	c.(24043-24045)tCa>tTa	p.S8015L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S6771L|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7698L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7698	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S6771L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCCAACTGAAATCGGGGC	0.502000													21	58					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57602525	57602525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57602525C>T	ENST00000243077.3	+	78	12536	c.12070C>T	c.(12070-12072)Ccc>Tcc	p.P4024S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4024					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGGCAACCACCCCAAGATTGA	0.647000													12	53					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183651392	183651392	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:183651392T>A	ENST00000511685.1	+	15	2748	c.2625T>A	c.(2623-2625)gaT>gaA	p.D875E	TENM3_ENST00000406950.2_Missense_Mutation_p.D875E|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		TGACTGCTGATGGAACTCCAC	0.428000													55	50					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039926	31039926	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31039926G>A	ENST00000355537.3	+	4	3547	c.3400G>A	c.(3400-3402)Gag>Aag	p.E1134K		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCCAACAAGGAGCCTGATGG	0.532000													11	35					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48745836	48745836	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48745836G>A	ENST00000285238.8	+	14	1908	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	610					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GAGCCAAGAGGAACTTGACCC	0.567000													36	41					0	0	1	0	0
CA1	759	broad.mit.edu	37	8	86253848	86253848	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86253848C>T	ENST00000523953.1	-	3	1063	c.17G>A	c.(16-18)tGg>tAg	p.W6*	CA1_ENST00000523022.1_Nonsense_Mutation_p.W6*|CA1_ENST00000431316.1_Nonsense_Mutation_p.W6*|CA1_ENST00000256119.5_Nonsense_Mutation_p.W6*|CA1_ENST00000542576.1_Nonsense_Mutation_p.W6*|CA1_ENST00000522389.1_5'UTR|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Nonsense_Mutation_p.W6*			P00915	CAH1_HUMAN	carbonic anhydrase I	6					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	ATCATATCCCCAGTCTGGACT	0.328000													9	41					0	0	1	0	0
OR4S2	219431	broad.mit.edu	37	11	55418422	55418422	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55418422C>T	ENST00000312422.2	+	1	43	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TTTCTGGGGTCTTTCTCAGAG	0.343000													30	48					0	0	1	0	0
ATL1	51062	broad.mit.edu	37	14	51096714	51096714	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:51096714G>A	ENST00000358385.6	+	13	1794	c.1551_splice	c.e13-1	p.G518_splice	ATL1_ENST00000357032.3_Intron|ATL1_ENST00000354525.4_Intron|ATL1_ENST00000441560.2_Intron	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1	518	Sufficient for membrane association.				axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						TTGCCACAGGGAAGTACAAAT	0.264000													9	33					0	0	1	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099598	142099598	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142099598G>A	ENST00000390359.3	-	0	242																											CTTCATTCTGGAAATAAGTCA	0.522000													12	43					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101219918	101219918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101219918G>A	ENST00000394095.2	-	2	139	c.86C>T	c.(85-87)tCg>tTg	p.S29L	SENP7_ENST00000358203.3_5'UTR|SENP7_ENST00000314261.7_Missense_Mutation_p.S29L|SENP7_ENST00000348610.3_Intron|SENP7_ENST00000394091.1_Intron|SENP7_ENST00000394094.2_Missense_Mutation_p.S29L	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	29					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCATACCTCCGATAAATCAGA	0.279000													14	28					0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46806750	46806750	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46806750G>A	ENST00000230588.4	+	14	2127	c.2118G>A	c.(2116-2118)ggG>ggA	p.G706G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	706	EGF-like.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTACACGGGGGAGCGCTGTC	0.592000													40	207					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764026	82764026	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82764026G>A	ENST00000423517.2	-	3	3177	c.2840C>T	c.(2839-2841)tCc>tTc	p.S947F	PCLO_ENST00000333891.8_Missense_Mutation_p.S947F	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	893	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTGCAGTGGAAATTAAATT	0.532000													3	28					0	0	1	0	0
INSR	3643	broad.mit.edu	37	19	7120680	7120680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7120680C>T	ENST00000341500.5	-	19	3613	c.3574G>A	c.(3574-3576)Gca>Aca	p.A1192T	INSR_ENST00000302850.5_Missense_Mutation_p.A1204T	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	1204	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GACTCCGGTGCCATCCACCGT	0.527000													70	178					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68984743	68984743	+	Missense_Mutation	SNP	C	C	T	rs150518974		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:68984743C>T	ENST00000288368.4	+	14	1784	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	503	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TAAAGATTACCATTTAAGGAC	0.313000													40	24					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138452587	138452587	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:138452587G>A	ENST00000344876.4	-	1	1042	c.656C>T	c.(655-657)tCa>tTa	p.S219L	PCDH18_ENST00000412923.2_Missense_Mutation_p.S219L|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_5'UTR|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	219	Cadherin 2.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCCATGTCTGAGGCAGTGAG	0.473000													39	34					0	0	1	0	0
TXNDC9	10190	broad.mit.edu	37	2	99936182	99936182	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:99936182C>T	ENST00000264255.3	-	5	899	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	C2orf15_ENST00000465095.1_Intron	NM_005783.3	NP_005774.2	O14530	TXND9_HUMAN	thioredoxin domain containing 9	215					cell redox homeostasis		protein binding			lung(1)	1						TTTCTTTCCTCGGATAGTTTT	0.289000													11	38					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223919	42223919	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42223919C>T	ENST00000221992.6	+	7	1677	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.F521F|CEACAM5_ENST00000398599.4_Silent_p.F520F	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	521	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTGTGGCCTTCACCTGTGAAC	0.562000													36	116					0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53522512	53522512	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:53522512T>C	ENST00000357758.3	-	10	2294	c.2111A>G	c.(2110-2112)aAc>aGc	p.N704S	DDHD1_ENST00000395606.1_Missense_Mutation_p.N711S|DDHD1_ENST00000323669.5_Missense_Mutation_p.N704S	NM_030637.2	NP_085140.2	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	704	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TTTAGCTGGGTTGAGAAAGCT	0.428000													31	111					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17696571	17696571	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17696571G>A	ENST00000399080.2	-	1	3135	c.3112C>T	c.(3112-3114)Cct>Tct	p.P1038S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	1038										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCCATATTAGGACCTGCTATA	0.363000													12	55					0	0	1	0	0
CA2	760	broad.mit.edu	37	8	86389397	86389397	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86389397G>A	ENST00000285379.5	+	6	786	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	186					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CCTCCTTCCTGAATCCTTGGA	0.512000													109	69					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201017723	201017723	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201017723C>T	ENST00000362061.3	-	36	4654	c.4428G>A	c.(4426-4428)aaG>aaA	p.K1476K	CACNA1S_ENST00000367338.3_Silent_p.K1457K	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1476					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCGTCTTGATCTTGAGTGCCG	0.562000													43	30					0	0	1	0	0
DKK3	27122	broad.mit.edu	37	11	12023884	12023884	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:12023884C>T	ENST00000396505.2	-	3	552	c.314G>A	c.(313-315)gGa>gAa	p.G105E	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000525493.1_Missense_Mutation_p.G105E|DKK3_ENST00000326932.4_Missense_Mutation_p.G105E|DKK3_ENST00000450094.2_Missense_Mutation_p.G105E	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	105					adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		p.G105A(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GGTATTATTTCCAACCTTCGT	0.463000													16	40					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103703762	103703762	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:103703762G>A	ENST00000245312.3	-	4	1202	c.606C>T	c.(604-606)gcC>gcT	p.A202A		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	202					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAATGAGGATGGCGCCCGCGA	0.438000													6	26					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46713055	46713055	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:46713055C>T	ENST00000318962.4	-	25	2787	c.2704G>A	c.(2704-2706)Gag>Aag	p.E902K	ALS2CL_ENST00000383742.3_Missense_Mutation_p.E249K|ALS2CL_ENST00000415953.1_Missense_Mutation_p.E902K	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	902	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AGGTGGATCTCGGCTCCCAGG	0.617000													11	48					0	0	1	0	0
HLA-DQA1	3117	broad.mit.edu	37	6	32609155	32609155	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32609155G>A	ENST00000343139.5	+	2	253	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.E51K|HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.E51K	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	51	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GTACACCCATGAATTTGATGG	0.532000													10	93					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985397	240985397	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:240985397G>A	ENST00000319423.4	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AGGTGAGCAGGAAGAGGAGGA	0.597000													14	32					0	0	1	0	0
IGHV3-30	28439	broad.mit.edu	37	14	106791144	106791144	+	RNA	SNP	G	G	A	rs71278954		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106791144G>A	ENST00000390613.2	-	0	291																											TCCATCATATGATATAACTGC	0.507000													82	370					0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934891	113934891	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:113934891C>T	ENST00000335953.4	+	2	1249	c.869C>T	c.(868-870)aCc>aTc	p.T290I	ZBTB16_ENST00000392996.2_Missense_Mutation_p.T290I	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	290					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCGTCATCACCAGTGCTAGG	0.657000													14	16					0	0	1	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124435	31124435	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:31124435C>T	ENST00000304166.4	+	8	811	c.522C>T	c.(520-522)atC>atT	p.I174I	ADCYAP1R1_ENST00000396211.2_Silent_p.I174I|ADCYAP1R1_ENST00000409363.1_Silent_p.I153I|ADCYAP1R1_ENST00000409489.1_Silent_p.I174I	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	174					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CCATGGTCATCCTTTGTCGCT	0.572000													38	131					0	0	1	0	0
ORC2	4999	broad.mit.edu	37	2	201785741	201785741	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:201785741G>A	ENST00000234296.2	-	14	1518	c.1269C>T	c.(1267-1269)tcC>tcT	p.S423S		NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	423					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GGTGGTCAATGGATGCTATAA	0.353000													12	14					0	0	1	0	0
SEL1L3	23231	broad.mit.edu	37	4	25835180	25835180	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:25835180G>A	ENST00000399878.3	-	4	994	c.872C>T	c.(871-873)tCa>tTa	p.S291L	SEL1L3_ENST00000513364.1_5'UTR|SEL1L3_ENST00000502949.1_Missense_Mutation_p.S138L|SEL1L3_ENST00000264868.5_Missense_Mutation_p.S256L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	291						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AAGCCACAATGAAACAGTAAA	0.368000													5	6					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15537625	15537625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:15537625G>A	ENST00000344577.2	-	6	908	c.883C>T	c.(883-885)Cct>Tct	p.P295S	LIPI_ENST00000536861.1_Missense_Mutation_p.P274S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	274					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GAACGACAAGGAAATGAAATA	0.353000													7	31					0	0	1	0	0
MARCH11	441061	broad.mit.edu	37	5	16067685	16067685	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:16067685C>T	ENST00000332432.8	-	4	1303	c.1104G>A	c.(1102-1104)caG>caA	p.Q368Q		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	368						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CATAGCCACACTGAAACCTTG	0.493000													28	233					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57335874	57335874	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57335874C>T	ENST00000326441.9	-	4	513	c.150G>A	c.(148-150)cgG>cgA	p.R50R	PEG3_ENST00000423103.2_Silent_p.R50R|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Intron|PEG3_ENST00000594706.1_Intron|ZIM2_ENST00000599935.1_5'UTR|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_5'UTR	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	50	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGATTAGGTTCCGAAACCTCT	0.502000													16	75					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455668	29455668	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29455668C>T	ENST00000377127.3	-	1	70	c.12G>A	c.(10-12)ggG>ggA	p.G4G		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	4						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGCAAATTTTCCCCCAGACCA	0.562000													29	27					0	0	1	0	0
ZNF618	114991	broad.mit.edu	37	9	116812003	116812003	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:116812003C>T	ENST00000288466.7	+	14	2241	c.2142C>T	c.(2140-2142)atC>atT	p.I714I	ZNF618_ENST00000374126.5_Silent_p.I807I|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGGCCATGATCCTGGACCCGC	0.617000													21	18					0	0	1	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128434603	128434603	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:128434603G>A	ENST00000265960.3	-	2	583	c.251C>T	c.(250-252)tCa>tTa	p.S84L	MAPKAP1_ENST00000394060.3_Missense_Mutation_p.S84L|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.S84L|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.S84L|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.S84L	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	84	Interaction with MAP3K2.			WDFGIRRRSNT -> ADPARSVEAAS (in Ref. 9; AAA36551).	nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ACCTGTGTTTGAGCGTCTTCT	0.403000													7	17					0	0	1	0	0
PACS1	55690	broad.mit.edu	37	11	65988645	65988645	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65988645C>T	ENST00000320580.4	+	10	1253	c.1220C>T	c.(1219-1221)tCg>tTg	p.S407L		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	407					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GAGGGGATGTCGCAGTCCAGC	0.607000													23	93					0	0	1	0	0
SIL1	64374	broad.mit.edu	37	5	138378348	138378348	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:138378348G>A	ENST00000394817.2	-	5	553	c.414C>T	c.(412-414)ttC>ttT	p.F138F	SIL1_ENST00000265195.5_Silent_p.F138F|SIL1_ENST00000509534.1_Silent_p.F145F|CTB-46B19.2_ENST00000512875.2_RNA	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	138	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCCCCTCCTTGAATTTTGCCA	0.468000									Marinesco-Sjgren syndrome				84	36					0	0	1	0	0
UACA	55075	broad.mit.edu	37	15	70991893	70991893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:70991893C>T	ENST00000322954.6	-	2	370	c.185G>A	c.(184-186)gGc>gAc	p.G62D	UACA_ENST00000560441.1_Missense_Mutation_p.G49D|UACA_ENST00000379983.2_Missense_Mutation_p.G49D|UACA_ENST00000539319.1_Missense_Mutation_p.G62D	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	62						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ATCTAGTTTGCCTGGATTGAC	0.398000													34	93					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77400841	77400841	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77400841G>A	ENST00000451710.3	-	21	3105	c.2868C>T	c.(2866-2868)ttC>ttT	p.F956F	TRPM6_ENST00000449912.2_Silent_p.F951F|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Silent_p.F956F|TRPM6_ENST00000361255.3_Silent_p.F951F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.F956F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	956					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TCACAGCAAAGAAGTCCAGGA	0.423000													76	9					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63417186	63417186	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:63417186C>T	ENST00000322893.7	-	7	1302	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	KCNH5_ENST00000394964.2_Missense_Mutation_p.G287E|KCNH5_ENST00000420622.2_Missense_Mutation_p.G345E|KCNH5_ENST00000394968.1_Missense_Mutation_p.G287E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	345					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GACTGCTGCTCCATATTCTAG	0.507000													16	61					0	0	1	0	0
SNHG16	100507246	broad.mit.edu	37	17	74554899	74554899	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74554899C>T	ENST00000363315.1	+	0	27																											TTAAAGTTATCCCTGTCTGAA	0.403000													37	40					0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11508206	11508206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11508206G>A	ENST00000380456.3	-	17	1877	c.1814C>T	c.(1813-1815)cCc>cTc	p.P605L	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.P611L	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	605	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CGCCGGGAGGGGGATTCGAGG	0.662000													11	10					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19575316	19575316	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:19575316G>A	ENST00000328405.2	+	16	3315	c.3049G>A	c.(3049-3051)Gat>Aat	p.D1017N		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1017	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TCCACATTCAGATTCTACGTT	0.443000													70	120					0	0	1	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891276	18891276	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18891276G>A	ENST00000317658.3	+	1	232	c.74G>A	c.(73-75)gGg>gAg	p.G25E		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	25					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCCCCTCCAGGGGAATTTGTA	0.463000													12	64					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874177	36874177	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36874177G>A	ENST00000301807.6	-	21	7012	c.5115C>T	c.(5113-5115)tcC>tcT	p.S1705S	TRANK1_ENST00000428977.2_Silent_p.S1705S|TRANK1_ENST00000429976.2_Silent_p.S2255S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2255					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGAACCGGAAGGATTTGTAAT	0.453000													53	31					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70931970	70931970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70931970G>A	ENST00000334414.6	-	28	5955	c.5911C>T	c.(5911-5913)Cct>Tct	p.P1971S	RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000538708.1_Missense_Mutation_p.P1663S|PTPRB_ENST00000451516.2_Missense_Mutation_p.P1663S|PTPRB_ENST00000261266.5_Missense_Mutation_p.P1753S|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.P1663S|PTPRB_ENST00000550358.1_Missense_Mutation_p.P1883S|RP11-588H23.3_ENST00000547656.1_RNA	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1753					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCAGAGCAAGGATCATCATCT	0.483000													39	58					0	0	1	0	0
NPSR1	387129	broad.mit.edu	37	7	34851465	34851465	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:34851465C>T	ENST00000360581.1	+	4	596	c.468C>T	c.(466-468)ttC>ttT	p.F156F	NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000359791.1_Silent_p.F156F|NPSR1_ENST00000381539.3_Silent_p.F156F|NPSR1_ENST00000531252.1_Silent_p.F145F	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	156						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CCATGAAGTTCCTTCAAGGAG	0.443000													53	139					0	0	1	0	0
BCL6	604	broad.mit.edu	37	3	187447775	187447775	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:187447775G>A	ENST00000406870.2	-	5	784	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Missense_Mutation_p.R140C|BCL6_ENST00000232014.4_Missense_Mutation_p.R140C	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	140					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AACTCTTCACGAGGAGGCTTG	0.522000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								20	54					0	0	1	0	0
JPH1	56704	broad.mit.edu	37	8	75227701	75227701	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:75227701G>A	ENST00000342232.4	-	2	574	c.534C>T	c.(532-534)gaC>gaT	p.D178D		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	178					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CGGCTGCGGCGTCGTGGAGCA	0.701000													9	12					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103251224	103251224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103251224C>T	ENST00000428762.1	-	22	3085	c.2926G>A	c.(2926-2928)Gaa>Aaa	p.E976K	RELN_ENST00000343529.5_Missense_Mutation_p.E976K|RELN_ENST00000424685.2_Missense_Mutation_p.E976K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	976					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GATGTAAATTCCTGACAACTT	0.423000													19	68					0	0	1	0	0
CEP350	9857	broad.mit.edu	37	1	180063461	180063461	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:180063461G>A	ENST00000367607.3	+	34	8639	c.8221G>A	c.(8221-8223)Gaa>Aaa	p.E2741K	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2741						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ACTAAATGAGGAAAAAAAGTC	0.353000													22	35					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57693312	57693312	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57693312C>T	ENST00000388812.4	+	11	1732	c.1292C>T	c.(1291-1293)cCc>cTc	p.P431L	GPR56_ENST00000540164.2_Intron|GPR56_ENST00000568908.1_Intron|GPR56_ENST00000379696.3_Missense_Mutation_p.P431L|GPR56_ENST00000544297.1_Intron|GPR56_ENST00000568909.1_Missense_Mutation_p.P431L|GPR56_ENST00000538815.1_Intron|GPR56_ENST00000456916.1_Missense_Mutation_p.P431L|GPR56_ENST00000562558.1_Intron|GPR56_ENST00000388813.5_Intron|GPR56_ENST00000562631.1_Intron|GPR56_ENST00000379694.4_Missense_Mutation_p.P261L|GPR56_ENST00000567835.1_Missense_Mutation_p.P431L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	431					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						ACCAGGGTGCCCCTGCCGTGC	0.632000													11	34					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23767427	23767427	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23767427C>T	ENST00000300113.2	+	4	688	c.265C>T	c.(265-267)Cat>Tat	p.H89Y		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	89	EF-hand 2.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GGTCTTGGCTCATTTTCGCCC	0.522000													22	17					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411173	43411173	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43411173G>A	ENST00000187910.2	-	5	1206	c.1141C>T	c.(1141-1143)Ccc>Tcc	p.P381S	PSG6_ENST00000402603.4_Missense_Mutation_p.P288S|PSG6_ENST00000292125.2_Missense_Mutation_p.P381S	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTAATTTGGGGGATAAAGAGC	0.453000													58	232					0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53104047	53104047	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:53104047C>T	ENST00000408890.4	+	1	699	c.683C>T	c.(682-684)tCc>tTc	p.S228F		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	228										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGGTTGCTTCCTTCGTGCCC	0.642000													31	68					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197446918	197446918	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:197446918G>A	ENST00000367400.3	+	12	4265	c.4130G>A	c.(4129-4131)gGa>gAa	p.G1377E	CRB1_ENST00000535699.1_Missense_Mutation_p.G1353E|CRB1_ENST00000367399.2_Missense_Mutation_p.G1265E|CRB1_ENST00000544212.1_Missense_Mutation_p.G858E|CRB1_ENST00000538660.1_Missense_Mutation_p.G841E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1377					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GCAACTCAGGGAACCTACAGC	0.517000													18	72					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174814908	174814908	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:174814908C>T	ENST00000454872.1	+	2	500	c.372C>T	c.(370-372)caC>caT	p.H124H	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	124					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACTTTTGCCACGTCTTAAAAA	0.388000													63	53					0	0	1	0	0
HIBADH	11112	broad.mit.edu	37	7	27671959	27671959	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:27671959G>A	ENST00000265395.2	-	3	564	c.358C>T	c.(358-360)Cta>Tta	p.L120L		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	120					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACATACTTTAGAATCCCATTT	0.348000													190	458					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101333182	101333182	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:101333182C>T	ENST00000392979.3	+	3	506	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L	ANO4_ENST00000392977.3_Silent_p.L84L|ANO4_ENST00000538618.1_Silent_p.L250L|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	84						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CCCTGGAAACCTGACTAGTAC	0.433000										HNSCC(74;0.22)			39	5					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234355427	234355427	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:234355427C>T	ENST00000264057.2	+	12	1416	c.1404C>T	c.(1402-1404)ttC>ttT	p.F468F	DGKD_ENST00000409813.3_Silent_p.F424F	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	468					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCGAAGACTTCAGCGAGGATT	0.597000													26	16					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088162	86088162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:86088162G>A	ENST00000330753.4	+	2	1071	c.304G>A	c.(304-306)Gaa>Aaa	p.E102K	FLRT2_ENST00000554746.1_Missense_Mutation_p.E102K	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	102					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity	p.E102K(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CCAACTGGACGAATTCCCCAT	0.468000													27	81					0	0	1	0	0
AXIN1	8312	broad.mit.edu	37	16	339520	339520	+	Silent	SNP	G	G	A	rs145726235		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:339520G>A	ENST00000262320.3	-	10	2753	c.2382C>T	c.(2380-2382)atC>atT	p.I794I	AXIN1_ENST00000354866.3_Silent_p.I758I	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	794	DIX.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGCGGTAGGGGATGGGTTCCC	0.632000													15	35					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123844368	123844368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123844368G>A	ENST00000369005.1	+	4	2693	c.2353G>A	c.(2353-2355)Gag>Aag	p.E785K	TACC2_ENST00000513429.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.E785K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000334433.3_Missense_Mutation_p.E785K|TACC2_ENST00000515603.1_Missense_Mutation_p.E785K|TACC2_ENST00000515273.1_Missense_Mutation_p.E785K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	785						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCCCCAGGGGGAGAACTTGGC	0.637000													21	46					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043377	180043377	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:180043377C>A	ENST00000261937.6	-	23	3287	c.3209G>T	c.(3208-3210)cGc>cTc	p.R1070L	FLT4_ENST00000502649.1_Missense_Mutation_p.R1070L|FLT4_ENST00000393347.3_Missense_Mutation_p.R1070L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1070	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACTGCCCTTGCGGACGTAGTC	0.607000													38	16					4.62619e-21	4.68272e-21	1	1	0
SLC34A2	10568	broad.mit.edu	37	4	25678327	25678327	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:25678327G>A	ENST00000382051.3	+	13	2079	c.2029G>A	c.(2029-2031)Gag>Aag	p.E677K	SLC34A2_ENST00000504570.1_Missense_Mutation_p.E676K|SLC34A2_ENST00000503434.1_Missense_Mutation_p.E676K	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	677					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GGCTCAGGGTGAGGTCCCTGC	0.582000			T	ROS1	NSCLC								13	28					0	0	1	0	0
ORC6	23594	broad.mit.edu	37	16	46731411	46731411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:46731411G>A	ENST00000566860.1	+	6	813	c.526G>A	c.(526-528)Gat>Aat	p.D176N	ORC6_ENST00000219097.2_Missense_Mutation_p.D225N|ORC6_ENST00000568364.2_3'UTR|ORC6_ENST00000575571.1_3'UTR			Q9Y5N6	ORC6_HUMAN	origin recognition complex, subunit 6	225					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	8						ACCACAGAAAGATGAAGATCT	0.343000													11	3					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	68940239	68940239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:68940239C>T	ENST00000433211.1	-	7	1057	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	CTNNA3_ENST00000545309.1_Missense_Mutation_p.E295K|CTNNA3_ENST00000373744.4_Missense_Mutation_p.E295K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	295					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GGTCGTATTTCCTCCTCAGTT	0.438000													21	32					0	0	1	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178541284	178541284	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178541284C>T	ENST00000251582.7	-	22	3321	c.3220G>A	c.(3220-3222)Gaa>Aaa	p.E1074K		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1074	PLAC.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GACAAGACTTCCATCCTACAG	0.493000													24	17					0	0	1	0	0
IL15	3600	broad.mit.edu	37	4	142642320	142642320	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:142642320G>A	ENST00000477265.1	+	3	5027	c.19G>A	c.(19-21)Gat>Aat	p.D7N	IL15_ENST00000514653.1_Missense_Mutation_p.D7N|IL15_ENST00000394159.1_Missense_Mutation_p.D7N|IL15_ENST00000296545.7_Intron|IL15_ENST00000529613.1_Intron|IL15_ENST00000320650.4_Intron			P40933	IL15_HUMAN	interleukin 15	0					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					GGGAACCATAGATTTGTGCAG	0.373000													8	14					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49863116	49863116	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49863116C>T	ENST00000377214.4	-	1	579	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	TEAD2_ENST00000598810.1_Missense_Mutation_p.E73K|TEAD2_ENST00000311227.2_Missense_Mutation_p.E73K|TEAD2_ENST00000593945.1_Missense_Mutation_p.E73K|TEAD2_ENST00000539846.1_Intron|TEAD2_ENST00000601519.1_Missense_Mutation_p.E73K			Q15562	TEAD2_HUMAN	TEA domain family member 2	73					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ATCTTGCCTTCATCAGACAAA	0.522000													42	51					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6078200	6078200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:6078200C>T	ENST00000217289.4	-	7	1716	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K	FERMT1_ENST00000536936.1_Missense_Mutation_p.E53K	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	310	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AACATTTCTTCCTCTGTGCAA	0.418000													9	59					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152420431	152420431	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:152420431C>T	ENST00000397345.3	-	118	18687	c.18485G>A	c.(18484-18486)gGg>gAg	p.G6162E	NEB_ENST00000172853.10_Missense_Mutation_p.G4461E|NEB_ENST00000604864.1_Missense_Mutation_p.G6162E|NEB_ENST00000603639.1_Missense_Mutation_p.G6162E|NEB_ENST00000409198.1_Missense_Mutation_p.G4461E|NEB_ENST00000427231.2_Missense_Mutation_p.G6162E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6156					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCCACGCCCCTTTATACAG	0.438000													6	11					0	0	1	0	0
MOS	4342	broad.mit.edu	37	8	57026502	57026502	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:57026502C>T	ENST00000311923.1	-	1	39	c.40G>A	c.(40-42)Gag>Aag	p.E14K		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	14							ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GGGGAAAACTCGCTCCGGAGG	0.682000													17	25					0	0	1	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55360232	55360232	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55360232G>A	ENST00000398661.2	-	8	1001	c.870C>T	c.(868-870)atC>atT	p.I290I	HMGCLL1_ENST00000308161.4_Silent_p.I228I|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Silent_p.I157I|HMGCLL1_ENST00000274901.4_Silent_p.I260I	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	290							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGGCCGTAAGGATATTTGCTA	0.388000													13	29					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453642	53453642	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53453642G>A	ENST00000357666.4	-	5	1686	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	ZNF816_ENST00000444460.2_Silent_p.F462F|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	462					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						ACTTCCGACTGAAACTCCTGC	0.408000													28	62					0	0	1	0	0
ZNF83	55769	broad.mit.edu	37	19	53117713	53117713	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53117713C>T	ENST00000597597.1	-	2	2358	c.105G>A	c.(103-105)ggG>ggA	p.G35G	ZNF83_ENST00000545872.1_Silent_p.G35G|ZNF83_ENST00000536937.1_Silent_p.G35G|ZNF83_ENST00000391789.4_Silent_p.G35G|ZNF83_ENST00000301096.3_Silent_p.G35G|ZNF83_ENST00000544146.1_Silent_p.G35G|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.G35G|ZNF83_ENST00000601257.1_Intron			P51522	ZNF83_HUMAN	zinc finger protein 83	35						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TATATATTTTCCCTTCAGCTT	0.398000													6	38					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42840346	42840346	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42840346C>T	ENST00000334370.4	+	6	1727	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	MEGF8_ENST00000251268.6_Silent_p.F364F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	364						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CTGGCCTCTTCCGTTTCCGCC	0.657000													12	35					0	0	1	0	0
ITIH3	3699	broad.mit.edu	37	3	52842610	52842610	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52842610G>A	ENST00000449956.2	+	22	2592	c.2586G>A	c.(2584-2586)acG>acA	p.T862T	ITIH3_ENST00000416872.2_Silent_p.T670T	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	862					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCATCGGCACGAAGGTTGTCT	0.527000													14	27					0	0	1	0	0
FLT1	2321	broad.mit.edu	37	13	29012450	29012450	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:29012450C>T	ENST00000282397.4	-	4	672	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	FLT1_ENST00000541932.1_Missense_Mutation_p.E141K|FLT1_ENST00000539099.1_Missense_Mutation_p.E141K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	141					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCGGGGATTTCACTGTACATC	0.373000													6	12					0	0	1	0	0
FAM193B	54540	broad.mit.edu	37	5	176958511	176958511	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:176958511G>A	ENST00000443375.2	-	7	2506	c.948C>T	c.(946-948)gcC>gcT	p.A316A	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Intron|FAM193B_ENST00000329540.5_5'UTR			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	413										kidney(1)|large_intestine(3)	4						GACTCGTCGGGGCAGCGGGTG	0.672000													5	4					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902152	247902152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247902152C>T	ENST00000283225.2	+	1	236	c.236C>T	c.(235-237)tCc>tTc	p.S79F	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						GTCCCCAAATCCATCCTCAAC	0.507000													58	46					0	0	1	0	0
FAM57B	83723	broad.mit.edu	37	16	30040821	30040821	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30040821G>A	ENST00000380495.4	-	2	872	c.141C>T	c.(139-141)gtC>gtT	p.V47V	FAM57B_ENST00000564806.1_5'UTR|FAM57B_ENST00000279389.4_5'UTR	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	47	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						TGATGGCCTGGACAGAGGACA	0.587000													5	20					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	96998373	96998373	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96998373C>T	ENST00000329399.6	-	6	863	c.755G>A	c.(754-756)gGa>gAa	p.G252E	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	252					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTGAGCATTTCCAATCGACGC	0.493000													14	37					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178433445	178433445	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:178433445C>T	ENST00000448150.3	+	15	4070	c.3252C>T	c.(3250-3252)tcC>tcT	p.S1084S	RASAL2_ENST00000462775.1_Silent_p.S954S|RASAL2_ENST00000367649.3_Silent_p.S1095S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	954					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCACAATGTCCCCAGTAGAGA	0.478000													27	49					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55538221	55538221	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55538221G>A	ENST00000220676.1	+	4	1927	c.1779G>A	c.(1777-1779)aaG>aaA	p.K593K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	593					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGGTATCAAGAACTTCAAAA	0.338000													45	49					0	0	1	0	0
THBD	7056	broad.mit.edu	37	20	23029960	23029960	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23029960G>A	ENST00000377103.2	-	1	418	c.182C>T	c.(181-183)aCa>aTa	p.T61I		NM_000361.2	NP_000352.1	P07204	TRBM_HUMAN	thrombomodulin	61	C-type lectin.				blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation	cell surface|integral to plasma membrane	calcium ion binding|protein binding|transmembrane receptor activity			endometrium(2)|large_intestine(3)|ovary(1)|skin(1)	7	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)				Drotrecogin alfa(DB00055)	GGAGCGCACTGTCATTAGGTG	0.672000													4	11					0	0	1	0	0
C1orf186	440712	broad.mit.edu	37	1	206241534	206241534	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:206241534C>T	ENST00000331555.5	-	4	893	c.256_splice	c.e4+1	p.R85_splice		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	85						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTTACTCACGCCTGTAAAGGG	0.552000													113	109					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62492550	62492550	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62492550C>T	ENST00000539111.2	-	1	604	c.537G>A	c.(535-537)ggG>ggA	p.G179G		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	179					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			CCCGTAGTTTCCCAGAAGTTT	0.453000													32	105					0	0	1	0	0
TMEM161B	153396	broad.mit.edu	37	5	87498844	87498844	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:87498844G>A	ENST00000296595.6	-	9	973	c.849C>T	c.(847-849)ctC>ctT	p.L283L	TMEM161B_ENST00000511218.1_Silent_p.L101L|TMEM161B_ENST00000509387.1_Silent_p.L156L|TMEM161B_ENST00000512429.1_Silent_p.L272L|TMEM161B_ENST00000514135.1_Silent_p.L283L|TMEM161B_ENST00000506536.1_Silent_p.L101L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	283						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTTTTACCCAGAGCAGAACCA	0.363000													21	45					0	0	1	0	0
BAI2	576	broad.mit.edu	37	1	32203334	32203334	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32203334G>A	ENST00000373658.3	-	19	3136	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	BAI2_ENST00000440175.2_Missense_Mutation_p.P574L|BAI2_ENST00000398538.1_Missense_Mutation_p.P920L|BAI2_ENST00000398556.3_Missense_Mutation_p.P880L|BAI2_ENST00000527361.1_Missense_Mutation_p.P932L|BAI2_ENST00000398542.1_Missense_Mutation_p.P865L|BAI2_ENST00000257070.4_Missense_Mutation_p.P932L|BAI2_ENST00000398547.1_Missense_Mutation_p.P865L|BAI2_ENST00000373655.2_Missense_Mutation_p.P932L	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	932					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GGGGACCGAGGGGGAGCCCGC	0.652000													15	5					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665331	6665331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6665331C>T	ENST00000326176.9	-	5	602	c.221G>A	c.(220-222)gGg>gAg	p.G74E	TNFSF14_ENST00000599359.1_Missense_Mutation_p.G110E|TNFSF14_ENST00000245912.3_Missense_Mutation_p.G74E	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	110					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TAACAGCGGCCCCCCGCTGCC	0.597000													4	9					0	0	1	0	0
CMBL	134147	broad.mit.edu	37	5	10282390	10282390	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:10282390C>T	ENST00000296658.3	-	5	897	c.477G>A	c.(475-477)aaG>aaA	p.K159K	CMBL_ENST00000510532.1_Intron	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	159						cytosol	hydrolase activity|protein binding			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						CTTCAGAATCCTTGACAATGC	0.438000													4	34					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17623740	17623740	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:17623740G>A	ENST00000377813.1	-	4	2248	c.1945C>T	c.(1945-1947)Ccc>Tcc	p.P649S	RRBP1_ENST00000455029.2_5'UTR|RRBP1_ENST00000246043.4_Missense_Mutation_p.P649S|RRBP1_ENST00000377807.2_Missense_Mutation_p.P216S|RRBP1_ENST00000360807.4_Missense_Mutation_p.P216S			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	649					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GTCTTGTAGGGGAGGTAGAGA	0.602000													18	22					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55028054	55028054	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55028054T>A	ENST00000371336.3	+	5	2023	c.1822T>A	c.(1822-1824)Tgt>Agt	p.C608S	CASS4_ENST00000360314.3_Missense_Mutation_p.C608S|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	608					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGAATTTAAGTGTGAAAAATA	0.433000													8	58					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8942929	8942929	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:8942929C>T	ENST00000326053.5	-	6	1444	c.1338G>A	c.(1336-1338)ggG>ggA	p.G446G	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	446										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)		GTTCAGCTTCCCCTGGCGGGG	0.522000													23	79					0	0	1	0	0
OR4K17	390436	broad.mit.edu	37	14	20586399	20586399	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20586399G>A	ENST00000315543.4	+	1	834	c.834G>A	c.(832-834)gtG>gtA	p.V278V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TCACAGTGGTGATTCTCTTCT	0.443000													29	40					0	0	1	0	0
ABCC1	4363	broad.mit.edu	37	16	16177243	16177243	+	Silent	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16177243A>T	ENST00000399408.2	+	17	2311	c.2136A>T	c.(2134-2136)ccA>ccT	p.P712P	ABCC1_ENST00000346370.5_Silent_p.P712P|ABCC1_ENST00000345148.5_Silent_p.P712P|ABCC1_ENST00000349029.5_Intron|ABCC1_ENST00000351154.5_Intron|ABCC1_ENST00000399410.3_Silent_p.P712P			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	712	ABC transporter 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCTATGTGCCACAGCAGGCCT	0.527000													14	40					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43543182	43543182	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43543182C>T	ENST00000400427.1	+	16	3633	c.3237C>T	c.(3235-3237)tcC>tcT	p.S1079S	UMODL1_ENST00000408989.2_Silent_p.S1151S|UMODL1_ENST00000400424.1_Silent_p.S951S|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Silent_p.S1023S	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1023	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCACCCCTCCTGCAACGTGA	0.617000													7	38					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007921	6007921	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6007921G>A	ENST00000332249.4	-	1	294	c.240C>T	c.(238-240)ttC>ttT	p.F80F		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCATGGACAGGAAGAGGTACA	0.537000													7	32					0	0	1	0	0
ITFG3	83986	broad.mit.edu	37	16	304634	304634	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:304634C>T	ENST00000399932.3	+	3	673	c.222C>T	c.(220-222)gaC>gaT	p.D74D	ITFG3_ENST00000600536.1_Silent_p.D74D|ITFG3_ENST00000450082.2_Silent_p.D74D|ITFG3_ENST00000442458.2_Silent_p.D74D|ITFG3_ENST00000301678.3_Silent_p.D74D|ITFG3_ENST00000301679.2_Silent_p.D74D			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	74						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGTGTCCAGACCGGCCGGCGT	0.602000													50	108					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846078	55846078	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55846078C>T	ENST00000322678.1	+	1	81	c.81C>T	c.(79-81)atC>atT	p.I27I	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TGCTTTTTATCTTTCTATTTC	0.408000													14	53					0	0	1	0	0
ZNF205	7755	broad.mit.edu	37	16	3165421	3165421	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3165421G>A	ENST00000382192.3	+	3	328	c.123G>A	c.(121-123)ggG>ggA	p.G41G	ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Silent_p.G41G	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	41					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						TACCTTCAGGGGACACTCAGG	0.592000													17	48					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160323917	160323917	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:160323917C>T	ENST00000368063.1	+	12	1409	c.1129C>T	c.(1129-1131)Ctc>Ttc	p.L377F	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.L377F|NCSTN_ENST00000368065.4_Missense_Mutation_p.L139F|NCSTN_ENST00000294785.5_Missense_Mutation_p.L397F|NCSTN_ENST00000535857.1_Missense_Mutation_p.L259F			Q92542	NICA_HUMAN	nicastrin	397					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTGGAGGATCTCCTGGCCAC	0.557000													17	35					0	0	1	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238657942	238657942	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238657942C>T	ENST00000244815.5	+	6	626	c.386C>T	c.(385-387)aCc>aTc	p.T129I	LRRFIP1_ENST00000392000.4_Missense_Mutation_p.T129I|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.T97I|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.T257I	NM_004735.3	NP_004726.2	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	129					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		TCCATCGACACCGAGGCATCC	0.498000													10	18					0	0	1	0	0
SULT2B1	6820	broad.mit.edu	37	19	49055573	49055573	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49055573G>A	ENST00000201586.2	+	1	242	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K		NM_177973.1	NP_814444.1	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	22					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TGACATCTCGGAAATCAGGTG	0.672000													4	23					0	0	1	0	0
KRT35	3886	broad.mit.edu	37	17	39633342	39633342	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39633342G>A	ENST00000246639.2	-	7	1376	c.1244C>T	c.(1243-1245)cCc>cTc	p.P415L	KRT35_ENST00000393989.1_Missense_Mutation_p.P445L			Q92764	KRT35_HUMAN	keratin 35	445	Tail.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CACACAAATGGGGCGGGGGCT	0.612000													11	79					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74750657	74750657	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:74750657G>A	ENST00000404568.3	-	5	1043	c.824C>T	c.(823-825)tCc>tTc	p.S275F	DQX1_ENST00000495597.1_5'UTR|DQX1_ENST00000393951.2_Missense_Mutation_p.S275F	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	275	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						ACAGCACAGGGAAATTTCCTG	0.527000													28	69					0	0	1	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307401	39307401	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39307401G>A	ENST00000541347.1	-	2	839	c.600C>T	c.(598-600)ttC>ttT	p.F200F	CX3CR1_ENST00000542107.1_Silent_p.F200F|CX3CR1_ENST00000358309.3_Silent_p.F232F|CX3CR1_ENST00000399220.2_Silent_p.F200F	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	200					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGGGGAGTAGGAAGCCAAGAA	0.463000													33	80					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5411319	5411319	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5411319G>A	ENST00000328611.3	+	1	713	c.691G>A	c.(691-693)Gga>Aga	p.G231R	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	231						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGTCCTATGGACTCATCCT	0.532000													20	58					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403478	69403478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:69403478C>T	ENST00000317746.2	-	6	1500	c.1458G>A	c.(1456-1458)tgG>tgA	p.W486*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	486					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						GGTACTGGATCCAGGTGAGGT	0.502000													24	34					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76797712	76797712	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:76797712C>T	ENST00000286719.7	-	11	1404	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	350	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	p.E350*(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GAGCGGCTTTCGGGGAGAAAC	0.587000													32	20					0	0	1	0	0
OSR2	116039	broad.mit.edu	37	8	99961429	99961429	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:99961429C>T	ENST00000297565.4	+	2	745	c.249C>T	c.(247-249)ttC>ttT	p.F83F	OSR2_ENST00000457907.2_Silent_p.F204F|OSR2_ENST00000523368.1_Silent_p.F83F|OSR2_ENST00000522510.1_Silent_p.F83F|OSR2_ENST00000435298.2_Silent_p.F83F	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	83					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			ACGCGCGCTTCCCCTTCCCGG	0.657000													62	33					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50705364	50705364	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:50705364C>T	ENST00000442544.2	+	9	2067	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	DCC_ENST00000581580.1_Missense_Mutation_p.S139F|DCC_ENST00000412726.1_Missense_Mutation_p.S332F	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	484	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CAGCCTGGGTCCCTTCAGCTC	0.453000													15	23					0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57003319	57003319	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57003319C>T	ENST00000200676.3	+	3	385	c.255C>T	c.(253-255)tcC>tcT	p.S85S	CETP_ENST00000569082.1_3'UTR|CETP_ENST00000379780.2_Silent_p.S85S|CETP_ENST00000566128.1_Silent_p.S20S	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	85					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GCCACTTGTCCATCGCCAGCA	0.542000													29	50					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791319	95791319	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:95791319C>T	ENST00000260766.3	+	2	1150	c.516C>T	c.(514-516)atC>atT	p.I172I	PLCE1_ENST00000371380.2_Silent_p.I172I	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	172					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTCAGTGATCATAGAGACAG	0.438000													23	69					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144763	55144763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55144763G>A	ENST00000396331.1	+	8	1612	c.1255G>A	c.(1255-1257)Gtc>Atc	p.V419I	LILRB1_ENST00000418536.2_Missense_Mutation_p.V419I|LILRB1_ENST00000396317.1_Missense_Mutation_p.V419I|LILRB1_ENST00000324602.7_Missense_Mutation_p.V419I|LILRB1_ENST00000427581.2_Missense_Mutation_p.V455I|LILRB1_ENST00000396327.3_Missense_Mutation_p.V419I|LILRB1_ENST00000462628.1_Intron|LILRB1_ENST00000396315.1_Missense_Mutation_p.V419I|LILRB1_ENST00000396321.2_Missense_Mutation_p.V419I|LILRB1_ENST00000434867.2_Missense_Mutation_p.V419I|LILRB1_ENST00000396332.4_Missense_Mutation_p.V419I|LILRB1_ENST00000448689.1_Missense_Mutation_p.V419I	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	419					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGAGCTCGTGGTCTCAGGTGG	0.637000										HNSCC(37;0.09)			25	56					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105883952	105883952	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:105883952G>A	ENST00000393359.2	-	12	2897	c.2471C>T	c.(2470-2472)cCc>cTc	p.P824L	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.P824L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	824					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCACAAAAGGGATTTTGGCA	0.473000													21	54					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101742293	101742293	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:101742293G>A	ENST00000251127.6	-	29	3375	c.3294C>T	c.(3292-3294)ttC>ttT	p.F1098F		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1098						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCACATTGTCGAAATTAAAGT	0.463000													52	153					0	0	1	0	0
BBS7	55212	broad.mit.edu	37	4	122766756	122766756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:122766756G>A	ENST00000264499.4	-	11	1316	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	BBS7_ENST00000506636.1_Missense_Mutation_p.S378F	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	378					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TATACCAAAGGAAGGTACTGC	0.348000									Bardet-Biedl syndrome				20	61					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4945021	4945021	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4945021G>A	ENST00000321961.2	-	1	616	c.549C>T	c.(547-549)caC>caT	p.H183H	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATCTCCAGGTGAAGACAAT	0.527000													9	46					0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128404936	128404936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:128404936C>T	ENST00000368227.3	-	9	1865	c.1499G>A	c.(1498-1500)gGa>gAa	p.G500E	PTPRK_ENST00000368215.3_Missense_Mutation_p.G500E|PTPRK_ENST00000368213.5_Missense_Mutation_p.G500E|PTPRK_ENST00000368210.3_Missense_Mutation_p.G500E|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000532331.1_Missense_Mutation_p.G500E|PTPRK_ENST00000368226.4_Missense_Mutation_p.G500E|PTPRK_ENST00000368207.3_Missense_Mutation_p.G500E|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	500	Fibronectin type-III 3.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AAAGGATGTTCCTTGAAGAGA	0.338000													17	22					0	0	1	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851621	14851621	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14851621G>A	ENST00000358984.4	+	36	3501	c.3321G>A	c.(3319-3321)gtG>gtA	p.V1107V		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1192										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AACACCAGGTGAAGGAAAATA	0.333000													10	22					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50717035	50717035	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50717035A>G	ENST00000449103.1	-	29	4777	c.4637T>C	c.(4636-4638)aTg>aCg	p.M1546T	PLXNB2_ENST00000359337.4_Missense_Mutation_p.M1546T			O15031	PLXB2_HUMAN	plexin B2	1546					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGTAGTGCATAAGGGTGTT	0.677000													8	9					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660156	90660156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:90660156G>A	ENST00000257749.4	-	7	2376	c.1669C>T	c.(1669-1671)Ctt>Ttt	p.L557F	RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.L557F|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.L557F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	557						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCTGTGGCAAGGAATCTGGCT	0.567000													21	28					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	36917628	36917628	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:36917628G>A	ENST00000310758.4	-	19	2456	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	ELMO1_ENST00000341056.3_Silent_p.S305S|ELMO1_ENST00000442504.1_Silent_p.S603S|ELMO1_ENST00000396045.3_Silent_p.S123S|ELMO1_ENST00000396040.2_Silent_p.S123S|ELMO1_ENST00000448602.1_Silent_p.S603S	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	603	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGTCCTGCAAGGAATCGTGGG	0.488000													7	76					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26224745	26224745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26224745C>T	ENST00000335473.7	+	15	3039	c.2789C>T	c.(2788-2790)tCc>tTc	p.S930F	MYO18B_ENST00000407587.2_Missense_Mutation_p.S930F|MYO18B_ENST00000536101.1_Missense_Mutation_p.S930F	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	930	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTCCCTAGATCCTTTTCCTCC	0.562000													16	45					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169555381	169555381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169555381G>A	ENST00000340806.6	+	5	1645	c.1645G>A	c.(1645-1647)Gat>Aat	p.D549N		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	549										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGGAAAGAAGGATGTAAAAGG	0.358000													14	4					0	0	1	0	0
SHC3	53358	broad.mit.edu	37	9	91686136	91686136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:91686136G>A	ENST00000375835.4	-	5	1067	c.761C>T	c.(760-762)tCc>tTc	p.S254F	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	254	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGAGGCGAAGGAGATGGACCG	0.502000													25	1					0	0	1	0	0
SLC22A12	116085	broad.mit.edu	37	11	64367874	64367874	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64367874G>A	ENST00000377574.1	+	8	2068	c.1321G>A	c.(1321-1323)Ggg>Agg	p.G441R	SLC22A12_ENST00000377567.2_Missense_Mutation_p.G333R|SLC22A12_ENST00000473690.1_Missense_Mutation_p.G220R|SLC22A12_ENST00000377572.1_Missense_Mutation_p.G333R|SLC22A12_ENST00000336464.7_Missense_Mutation_p.G407R	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	441					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GGCCGTGCTGGGGCTGGGCGG	0.637000													10	25					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940528	144940528	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144940528C>T	ENST00000525985.1	-	2	6965	c.6894G>A	c.(6892-6894)gaG>gaA	p.E2298E				P58107	EPIPL_HUMAN	epiplakin 1	2298						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCAGCTTCTCCTGGATCT	0.701000													5	146					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927645	43927645	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:43927645C>T	ENST00000282406.4	+	8	1658	c.1548C>T	c.(1546-1548)tcC>tcT	p.S516S		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	516						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCTATGACTCCTTGGACTCTC	0.443000													507	156					0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150484099	150484099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:150484099C>T	ENST00000369047.4	+	7	1000	c.875C>T	c.(874-876)tCc>tTc	p.S292F	ECM1_ENST00000346569.6_Intron|ECM1_ENST00000369049.4_Missense_Mutation_p.S319F|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	292	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCTGATATTTCCTCGGGTCTT	0.622000													45	43					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37490223	37490223	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37490223G>A	ENST00000374660.1	+	37	3127	c.3028G>A	c.(3028-3030)Gaa>Aaa	p.E1010K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E891K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E891K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1034						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ACATCAAAAAGAAATGGATAA	0.318000													16	68					0	0	1	0	0
ZNF2	7549	broad.mit.edu	37	2	95847389	95847389	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:95847389C>T	ENST00000398107.2	+	4	1212	c.690C>T	c.(688-690)tcC>tcT	p.S230S	ZNF2_ENST00000425369.1_Silent_p.S192S|ZNF2_ENST00000340539.5_Silent_p.S272S|ZNF2_ENST00000295210.6_Silent_p.S234S|ZNF2_ENST00000453539.2_Silent_p.S285S	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ACCGTTCATCCCTTACTCGAC	0.458000													38	57					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141799449	141799449	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141799449T>A	ENST00000475668.2	+	67	7840	c.7786T>A	c.(7786-7788)Ttg>Atg	p.L2596M	MGAM_ENST00000549489.2_Missense_Mutation_p.L1700M			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1700					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTGGAAGACCTTGCCAGCCCC	0.527000													41	31					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215848027	215848027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215848027G>A	ENST00000366943.2	-	63	13612	c.13226C>T	c.(13225-13227)tCc>tTc	p.S4409F	USH2A_ENST00000307340.3_Missense_Mutation_p.S4409F			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4409	Fibronectin type-III 29.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTGCAGGTGGGAAACCAGCAG	0.483000										HNSCC(13;0.011)			16	75					0	0	1	0	0
LECT2	3950	broad.mit.edu	37	5	135283133	135283133	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:135283133T>C	ENST00000274507.1	-	4	543	c.343A>G	c.(343-345)Aag>Gag	p.K115E	LECT2_ENST00000512872.1_Missense_Mutation_p.K43E|FBXL21_ENST00000467490.1_RNA|LECT2_ENST00000471827.1_Intron|LECT2_ENST00000522943.1_Intron	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	115					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCTCCCTTCTTAATAGGACCT	0.353000													17	38					0	0	1	0	0
UCMA	221044	broad.mit.edu	37	10	13271644	13271644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:13271644C>T	ENST00000378681.3	-	4	358	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	UCMA_ENST00000463405.2_Missense_Mutation_p.E74K	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	96						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TTCTCAAATTCATTCCTTTGT	0.468000													42	64					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16891403	16891403	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:16891403C>T	ENST00000430580.2	-	28	3962	c.3075G>A	c.(3073-3075)aaG>aaA	p.K1025K		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1025	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		ccttccccttcttTTCAATTT	0.443000													14	475					0	0	1	0	0
CTD-2066L21.3	0	broad.mit.edu	37	5	33162683	33162683	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:33162683G>A	ENST00000510327.1	-	0	346																											GACTCCTGAGGAAGAAGAGAT	0.463000													4	4					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30902728	30902728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:30902728C>T	ENST00000597505.1	-	35	5200	c.5201G>A	c.(5200-5202)gGa>gAa	p.G1734E				P59894	DCDC1_HUMAN	doublecortin domain containing 1	240					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GAAACCATGTCCCATAGACAC	0.433000													12	49					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	107114863	107114863	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:107114863G>A	ENST00000273980.4	-	23	2409	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	TBCK_ENST00000394708.2_Silent_p.F654F|TBCK_ENST00000394706.3_Silent_p.F615F|TBCK_ENST00000361687.4_Silent_p.F591F|TBCK_ENST00000432496.2_Silent_p.F654F|TBCK_ENST00000514689.1_5'UTR			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	654						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TACAGAATGGGAAAGAGGAAT	0.378000													10	64					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149631319	149631319	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149631319G>A	ENST00000348628.6	-	9	1352	c.687C>T	c.(685-687)gcC>gcT	p.A229A	CAMK2A_ENST00000398376.3_Silent_p.A229A	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	229	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACATCATAGGCGCCGGCTT	0.587000													5	13					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54148047	54148047	+	Silent	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:54148047A>C	ENST00000404125.1	-	18	2296	c.2241T>G	c.(2239-2241)ccT>ccG	p.P747P	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	747					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTATTCAGAAGGAGGCTTGT	0.378000													29	161					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	106918717	106918717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:106918717G>A	ENST00000369701.3	+	11	1924	c.1697G>A	c.(1696-1698)aGc>aAc	p.S566N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	566						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AGAATCTCTAGCAAGGAGACA	0.423000													16	34					0	0	1	0	0
SNORD113-5	767565	broad.mit.edu	37	14	101404598	101404598	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:101404598C>T	ENST00000607261.1	+	0	75					NR_003233.1																						ACTCTGAGATCTGTTATTGAA	0.353000													37	46					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64601751	64601751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:64601751C>T	ENST00000498707.1	-	20	3251	c.2909G>A	c.(2908-2910)gGg>gAg	p.G970E	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G942E	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	970	TSP type-1 3.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCAGTCTTCCCATCCAGCCT	0.512000													182	368					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964850	7964850	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:7964850C>T	ENST00000539278.1	-	1	3577	c.417G>A	c.(415-417)agG>agA	p.R139R	LRRC8E_ENST00000306708.6_Silent_p.F481F																							TGCAGGTCTTCCTGCGGGACC	0.647000													8	14					0	0	1	0	0
OR6K3	391114	broad.mit.edu	37	1	158687515	158687515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158687515G>A	ENST00000368146.1	-	1	438	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	OR6K3_ENST00000368145.1_Missense_Mutation_p.R131C			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ATTTGATAGCGAAGAGGGTTG	0.493000													36	135					0	0	1	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830831	22830831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:22830831G>A	ENST00000376573.4	-	8	1166	c.938C>T	c.(937-939)cCc>cTc	p.P313L	PIP4K2A_ENST00000545335.1_Missense_Mutation_p.P254L|PIP4K2A_ENST00000323883.7_Missense_Mutation_p.P173L	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	313	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						GCTATCTGGGGGGGTTCCCAC	0.582000													52	54					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832744	113832744	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:113832744G>A	ENST00000393197.2	+	4	683	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	IL1F10_ENST00000337569.3_Missense_Mutation_p.E88K|IL1F10_ENST00000341010.2_Missense_Mutation_p.E88K	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	88						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GAACATTGAGGAACTGTACAA	0.577000													113	82					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138713478	138713478	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138713478G>A	ENST00000389532.4	-	11	3093	c.3029C>T	c.(3028-3030)aCt>aTt	p.T1010I	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T732I|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T1021I|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1010						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CTCCCCAACAGTGTCCTCCAG	0.522000													6	14					0	0	1	0	0
BCR	613	broad.mit.edu	37	22	23596140	23596140	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23596140C>T	ENST00000305877.8	+	2	2185	c.1434C>T	c.(1432-1434)gtC>gtT	p.V478V	BCR_ENST00000359540.3_Silent_p.V478V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	478					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						ATGCGCTGGTCTCGGGAGCCC	0.667000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								6	22					0	0	1	0	0
ZNF675	171392	broad.mit.edu	37	19	23845935	23845935	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:23845935G>A	ENST00000359788.4	-	2	197	c.29C>T	c.(28-30)gCc>gTc	p.A10V	ZNF675_ENST00000601010.1_Missense_Mutation_p.A10V|ZNF675_ENST00000601935.1_Missense_Mutation_p.A10V|ZNF675_ENST00000600313.1_Missense_Mutation_p.A10V|ZNF675_ENST00000599168.1_Missense_Mutation_p.A10V|ZNF675_ENST00000596211.1_Missense_Mutation_p.A10V	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	10	KRAB.				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GAATTCTATGGCCACATCCCT	0.393000													12	65					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6290975	6290975	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6290975C>T	ENST00000525462.1	+	2	231	c.228C>T	c.(226-228)atC>atT	p.I76I	CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525014.1_Silent_p.I76I|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000334619.2_Silent_p.I76I			P32239	GASR_HUMAN	cholecystokinin B receptor	76					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TGCTCATCATCGTGGTCCTGG	0.552000													21	83					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44806154	44806154	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44806154C>T	ENST00000309315.4	+	18	2670	c.2547C>T	c.(2545-2547)ggC>ggT	p.G849G	ZMIZ2_ENST00000463931.1_3'UTR|ZMIZ2_ENST00000433667.1_Silent_p.G817G|ZMIZ2_ENST00000441627.1_Silent_p.G849G|ZMIZ2_ENST00000413916.1_Silent_p.G791G|ZMIZ2_ENST00000265346.7_Silent_p.G823G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	849	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTCCTTGGGCCAAGCGAGCT	0.657000													82	53					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110880495	110880495	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:110880495G>A	ENST00000265171.5	+	6	1413	c.968G>A	c.(967-969)gGa>gAa	p.G323E	EGF_ENST00000509793.1_Intron|EGF_ENST00000503392.1_Missense_Mutation_p.G323E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	323	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TTGAGGAAAGGAAACTGCAGC	0.473000													14	34					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177199208	177199208	+	Missense_Mutation	SNP	C	C	T	rs112761040		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177199208C>T	ENST00000361539.4	+	2	508	c.196C>T	c.(196-198)Cac>Tac	p.H66Y		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		66						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						GGGCCCCTTCCACCGCGCTCA	0.637000													52	64					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167145070	167145070	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:167145070G>A	ENST00000303354.6	-	10	1534	c.1194C>T	c.(1192-1194)atC>atT	p.I398I	SCN9A_ENST00000409435.1_Silent_p.I397I|SCN9A_ENST00000409672.1_Silent_p.I397I|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Silent_p.I398I			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	397						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCACAGCCAGGATCAAGTTTA	0.408000													27	44					0	0	1	0	0
SPRY1	10252	broad.mit.edu	37	4	124323620	124323620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:124323620C>T	ENST00000394339.2	+	2	1214	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	SPRY1_ENST00000339241.1_Missense_Mutation_p.R292C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	292	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						CTGGATCCATCGCCCAGGGTG	0.498000													24	113					0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020377	5020377	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5020377C>T	ENST00000321543.1	+	1	165	c.165C>T	c.(163-165)tcC>tcT	p.S55S		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATAGAATCCTCTCTCCATC	0.433000													25	83					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150698983	150698983	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150698983C>T	ENST00000297494.3	+	13	1934	c.1577C>T	c.(1576-1578)tCc>tTc	p.S526F	NOS3_ENST00000467517.1_Missense_Mutation_p.S526F|NOS3_ENST00000461406.1_Missense_Mutation_p.S320F|NOS3_ENST00000484524.1_Missense_Mutation_p.S526F	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	526	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CTGTATGGCTCCGAGACCGGC	0.652000													14	27					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70461373	70461373	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:70461373G>A	ENST00000327305.6	-	6	1275	c.618C>T	c.(616-618)atC>atT	p.I206I	NETO1_ENST00000299430.2_Silent_p.I205I|NETO1_ENST00000583169.1_Silent_p.I206I	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	206	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAGGTGCTCGGATGTACCACT	0.468000													32	30					0	0	1	0	0
KIAA1468	57614	broad.mit.edu	37	18	59912077	59912077	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:59912077C>T	ENST00000256858.6	+	11	1949	c.1701C>T	c.(1699-1701)ttC>ttT	p.F567F	KIAA1468_ENST00000398130.2_Silent_p.F567F			Q9P260	K1468_HUMAN	KIAA1468	567							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				ACATACTTTTCAATTTGATCA	0.393000													6	24					0	0	1	0	0
POLH	5429	broad.mit.edu	37	6	43582291	43582291	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:43582291T>C	ENST00000372236.4	+	11	2434	c.2139T>C	c.(2137-2139)caT>caC	p.H713H	POLH_ENST00000535400.1_Silent_p.H651H|POLH_ENST00000372226.1_3'UTR	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	713					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CATTAACACATTAGTGCTGCC	0.388000								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				28	122					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48501970	48501970	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:48501970C>T	ENST00000340802.6	+	3	422	c.198C>T	c.(196-198)ttC>ttT	p.F66F		NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	0					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TACCTGTTTTCAAAACTGGTG	0.423000													27	93					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155753858	155753858	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155753858G>A	ENST00000437809.1	-	14	1933	c.1811C>T	c.(1810-1812)tCc>tTc	p.S604F	GON4L_ENST00000271883.5_Missense_Mutation_p.S604F|GON4L_ENST00000368331.1_Missense_Mutation_p.S604F|GON4L_ENST00000361040.5_Missense_Mutation_p.S604F|GON4L_ENST00000471341.1_5'UTR			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	604					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTCCATGTTGGAGAATCCCAT	0.507000													56	40					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096790	51096790	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:51096790G>A	ENST00000395542.2	-	12	2433	c.2249C>T	c.(2248-2250)tCc>tTc	p.S750F	COBL_ENST00000265136.7_Missense_Mutation_p.S668F			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	668										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACCGGTTGGGAATTCACTCT	0.483000													25	137					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429147	42429147	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42429147G>A	ENST00000053867.3	+	10	1225	c.1163G>A	c.(1162-1164)tGc>tAc	p.C388Y	GRN_ENST00000589923.1_3'UTR|GRN_ENST00000589265.1_Missense_Mutation_p.C231Y	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	388					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GAGTGGGGCTGCTGTCCAATC	0.587000													14	53					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152404847	152404847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:152404847C>T	ENST00000397345.3	-	131	20334	c.20132G>A	c.(20131-20133)cGg>cAg	p.R6711Q	NEB_ENST00000172853.10_Missense_Mutation_p.R5010Q|NEB_ENST00000604864.1_Missense_Mutation_p.R6711Q|NEB_ENST00000603639.1_Missense_Mutation_p.R6711Q|NEB_ENST00000409198.1_Missense_Mutation_p.R5010Q|NEB_ENST00000427231.2_Missense_Mutation_p.R6711Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5010					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTGACTCTCCGGACGTGGAC	0.423000													12	44					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21713414	21713414	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:21713414C>T	ENST00000358491.4	+	3	362	c.154C>T	c.(154-156)Cta>Tta	p.L52L	ZNF429_ENST00000597078.1_Silent_p.L52L|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGCCAGACCTAATCACTTG	0.368000													13	22					0	0	1	0	0
ADH6	130	broad.mit.edu	37	4	100134886	100134886	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:100134886A>C	ENST00000394897.1	-	3	221	c.139T>G	c.(139-141)Tgt>Ggt	p.C47G	RP11-696N14.1_ENST00000506454.1_RNA|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.C47G|ADH6_ENST00000237653.7_Missense_Mutation_p.C47G|ADH6_ENST00000407820.2_Intron			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	47					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TCTGTACCACACAGTCCGGTG	0.483000													32	70					0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27414026	27414026	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:27414026G>A	ENST00000527372.1	-	38	5820	c.5640C>T	c.(5638-5640)ctC>ctT	p.L1880L	MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000533112.1_Silent_p.L1843L|MYO18A_ENST00000531253.1_Silent_p.L1880L|MYO18A_ENST00000354329.4_Silent_p.L1880L|TIAF1_ENST00000408971.2_5'UTR	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1880					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGGTGTCCCGGAGCTGCCTCT	0.622000													11	55					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570759	20570759	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20570759C>T	ENST00000329697.6	-	3	356	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	ACSM2B_ENST00000414188.2_Missense_Mutation_p.R63Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R63Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R63Q|ACSM2B_ENST00000565322.1_5'UTR	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	63					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GCTTGGGAGTCGCTTGCCAGC	0.512000													7	10					0	0	1	0	0
PNMAL2	57469	broad.mit.edu	37	19	46997306	46997306	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46997306C>T	ENST00000599531.1	-	1	2449	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	PNMAL2_ENST00000377655.2_Intron|PNMAL2_ENST00000594749.1_Intron	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	473										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TTCCCGCCTTCCCAGGCGTTT	0.627000													21	88					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76900507	76900507	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:76900507T>C	ENST00000409709.3	+	28	3894	c.3622T>C	c.(3622-3624)Ttt>Ctt	p.F1208L	MYO7A_ENST00000458637.2_Missense_Mutation_p.F1208L|MYO7A_ENST00000409619.2_Missense_Mutation_p.F1197L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1208	MyTH4 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CTCCGAGAAGTTTGTCAAGGT	0.622000													26	106					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8527463	8527463	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8527463A>G	ENST00000348943.3	+	3	566	c.334A>G	c.(334-336)Agg>Ggg	p.R112G	HNRNPM_ENST00000325495.4_Missense_Mutation_p.R112G	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	112	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AGGAAAGTCAAGGGTAAGTGT	0.428000													45	35					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5655114	5655114	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5655114G>A	ENST00000354852.5	+	9	1739	c.1566G>A	c.(1564-1566)gaG>gaA	p.E522E	TRIM6-TRIM34_ENST00000457787.2_Silent_p.E168E|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Silent_p.E168E|TRIM34_ENST00000514226.1_Silent_p.E168E	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		522						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TCAGAGAAGAGAAAACTTCCT	0.473000													10	32					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476483	140476483	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140476483C>T	ENST00000194155.4	+	1	2257	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		703					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCGCTCTTCCTCTTCTCGG	0.706000													109	52					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36064984	36064984	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:36064984G>A	ENST00000225893.4	-	6	1640	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	HNF1B_ENST00000561193.1_Missense_Mutation_p.P401S|HNF1B_ENST00000560016.1_Missense_Mutation_p.P427S|HNF1B_ENST00000427275.2_Missense_Mutation_p.P401S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	427					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GATTGCTGGGGATTATGGTGG	0.483000													189	324					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921892	24921892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:24921892C>T	ENST00000329468.2	+	1	1352	c.878C>T	c.(877-879)cCg>cTg	p.P293L		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTAGGCTTGCCGATTCCGCTG	0.622000													16	75					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34042387	34042387	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:34042387G>A	ENST00000389232.4	+	57	8369	c.8299G>A	c.(8299-8301)Gta>Ata	p.V2767I	RYR3_ENST00000415757.3_Missense_Mutation_p.V2767I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2767	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCTCTTCTGGTACCATATGA	0.522000													5	17					0	0	1	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866632	106866632	+	RNA	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106866632C>A	ENST00000390618.2	-	0	199																											AGAGGCTGCACAGGAGAGTCT	0.592000													25	133					3.28513e-13	3.31361e-13	1	1	0
MED13	9969	broad.mit.edu	37	17	60038340	60038340	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:60038340G>A	ENST00000397786.2	-	23	5444	c.5368C>T	c.(5368-5370)Ctt>Ttt	p.L1790F		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1790					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCCACAAAAAGAACATTATAT	0.373000													10	37					0	0	1	0	0
ORM1	5004	broad.mit.edu	37	9	117087361	117087361	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:117087361G>A	ENST00000259396.8	+	5	547	c.469G>A	c.(469-471)Gga>Aga	p.G157R	ORM1_ENST00000477456.1_3'UTR	NM_000607.2	NP_000598.2	P02763	A1AG1_HUMAN	orosomucoid 1	157					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	GGAGCAACTGGGAGAGTTCTA	0.597000													20	23					0	0	1	0	0
ZNF623	9831	broad.mit.edu	37	8	144733464	144733464	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144733464C>T	ENST00000501748.2	+	1	1511	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	ZNF623_ENST00000458270.2_Silent_p.F434F|ZNF623_ENST00000526926.1_Silent_p.F434F	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	zinc finger protein 623	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTCAAACTTCCTTCAACACC	0.398000													16	48					0	0	1	0	0
CRTC2	200186	broad.mit.edu	37	1	153924114	153924114	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:153924114G>A	ENST00000368633.1	-	11	1153	c.1026C>T	c.(1024-1026)tcC>tcT	p.S342S	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	342	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGACTGCAGGGATGGGTGGC	0.577000													58	61					0	0	1	0	0
COL4A2	1284	broad.mit.edu	37	13	111156522	111156522	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:111156522G>A	ENST00000360467.5	+	45	4619	c.4313G>A	c.(4312-4314)gGg>gAg	p.G1438E	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1438	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGGAAAGCTGGGCCCCAAGGA	0.607000													37	20					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155199680	155199680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:155199680G>A	ENST00000460012.1	-	23	4402	c.4045C>T	c.(4045-4047)Cct>Tct	p.P1349S	PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.P1387S|PLCH1_ENST00000334686.6_Missense_Mutation_p.P1349S|PLCH1_ENST00000414191.1_Missense_Mutation_p.P1349S|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1387					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTTTTAAAGGAGAAGCAAGT	0.438000													18	42					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66660289	66660289	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:66660289G>A	ENST00000359626.5	+	15	2106	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	648					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				ATGTGAACACGAACACTCTAA	0.473000													46	17					0	0	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975515	44975515	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:44975515G>A	ENST00000340446.4	-	1	967	c.676C>T	c.(676-678)Ccc>Tcc	p.P226S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	226						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		AGTACCGGGGGACCTTTTTTA	0.403000													21	77					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166245525	166245525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166245525C>T	ENST00000357398.3	+	27	5499	c.5209C>T	c.(5209-5211)Cac>Tac	p.H1737Y	SCN2A_ENST00000375427.2_Missense_Mutation_p.H1737Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.H1737Y|SCN2A_ENST00000375437.2_Missense_Mutation_p.H1737Y			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1737					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TGACAAAGATCACCCTGGAAG	0.453000													57	117					0	0	1	0	0
EPS8L1	54869	broad.mit.edu	37	19	55591907	55591907	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55591907G>A	ENST00000245618.5	+	1	148	c.46G>A	c.(46-48)Gag>Aag	p.E16K	EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000201647.6_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.E16K	NM_017729.3	NP_060199.3	Q8TE68	ES8L1_HUMAN	EPS8-like 1	0						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CAGCCAGGACGAGGTGGGGGC	0.617000													4	20					0	0	1	0	0
QRFPR	84109	broad.mit.edu	37	4	122257993	122257993	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:122257993C>T	ENST00000394427.2	-	3	941	c.530G>A	c.(529-531)gGa>gAa	p.G177E	QRFPR_ENST00000334383.5_Missense_Mutation_p.G177E	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	177						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CATGGGTGATCCTACGATGAC	0.393000													37	239					0	0	1	0	0
ZNF423	23090	broad.mit.edu	37	16	49670875	49670875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:49670875C>T	ENST00000561648.1	-	4	2241	c.2188G>A	c.(2188-2190)Gac>Aac	p.D730N	ZNF423_ENST00000535559.1_Missense_Mutation_p.D613N|ZNF423_ENST00000562520.1_Missense_Mutation_p.D670N|ZNF423_ENST00000563137.2_Missense_Mutation_p.D670N|ZNF423_ENST00000562871.1_Missense_Mutation_p.D670N|ZNF423_ENST00000567169.1_Missense_Mutation_p.D613N|ZNF423_ENST00000262383.2_Missense_Mutation_p.D730N	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	730					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACCTTGGAGTCGAAGACCTCC	0.567000													16	18					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086229	56086229	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56086229C>T	ENST00000312711.1	+	1	447	c.447C>T	c.(445-447)taC>taT	p.Y149Y		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CAATCCCTTACCTCTATTGCA	0.433000													41	65					0	0	1	0	0
SLAMF9	89886	broad.mit.edu	37	1	159923209	159923209	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159923209G>A	ENST00000368093.3	-	2	397	c.281C>T	c.(280-282)tCc>tTc	p.S94F	SLAMF9_ENST00000368092.3_Missense_Mutation_p.S94F|SLAMF9_ENST00000466773.1_Intron	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	94						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATATGCAGGGAATAGCTGGG	0.517000													37	76					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36484591	36484591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:36484591C>T	ENST00000342292.4	-	11	4881	c.4861G>A	c.(4861-4863)Gag>Aag	p.E1621K		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1621						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGCATTTTCTCCTTGTCCTTT	0.493000													41	133					0	0	1	0	0
GRM2	2912	broad.mit.edu	37	3	51749974	51749974	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:51749974T>C	ENST00000395052.3	+	4	2419	c.2185T>C	c.(2185-2187)Ttg>Ctg	p.L729L	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	729					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TGCAAGTATGTTGGGCTCGCT	0.612000													15	48					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7220546	7220546	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7220546C>G	ENST00000399464.2	-	28	4477	c.4462G>C	c.(4462-4464)Gag>Cag	p.E1488Q	RP11-542C16.2_ENST00000575474.1_Silent_p.R301R|NEURL4_ENST00000315614.7_Missense_Mutation_p.E1486Q|NEURL4_ENST00000570460.1_Missense_Mutation_p.E1464Q	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCAGGGTCTCCGCCCCAGCA	0.642000													10	42					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45513922	45513922	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:45513922C>T	ENST00000361462.2	+	13	4186	c.4003C>T	c.(4003-4005)Caa>Taa	p.Q1335*	FAM179B_ENST00000382233.2_3'UTR|FAM179B_ENST00000361577.3_Nonsense_Mutation_p.Q1335*			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1335							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAGCATGGATCAAGAGCTAGA	0.343000													12	39					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132552996	132552996	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:132552996G>A	ENST00000265342.7	-	13	1782	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	511						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGATGTACCGGTTCCGGACAT	0.498000													21	46					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086388	55086388	+	Silent	SNP	C	C	T	rs143437645		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55086388C>T	ENST00000251377.3	+	5	676	c.543C>T	c.(541-543)tcC>tcT	p.S181S	LILRA2_ENST00000391738.3_Silent_p.S181S|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Silent_p.S181S|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Silent_p.S169S|LILRB1_ENST00000448689.1_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.S181S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCATCTTCTCCGTGGGCCCCG	0.567000													29	104					0	0	1	0	0
RND1	27289	broad.mit.edu	37	12	49254910	49254910	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49254910C>T	ENST00000309739.5	-	4	453	c.323G>A	c.(322-324)aGg>aAg	p.R108K		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	108					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GATTTCTGTCCTCCACTGAGG	0.537000													18	63					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11713671	11713671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11713671G>A	ENST00000262442.3	+	45	8760	c.8692G>A	c.(8692-8694)Gat>Aat	p.D2898N	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2898N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2898	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GCTCATCAATGATCTTTTGGC	0.468000													15	69					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82544603	82544603	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82544603C>T	ENST00000423517.2	-	7	13036	c.12699G>A	c.(12697-12699)agG>agA	p.R4233R	PCLO_ENST00000333891.8_Silent_p.R4233R|PCLO_ENST00000437081.1_Silent_p.R953R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4164	Ser-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAGCCTTGCCCTGGAGGAAA	0.398000													30	12					0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139651584	139651584	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139651584C>T	ENST00000371688.3	-	2	356	c.61G>A	c.(61-63)Gat>Aat	p.D21N	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	44					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		AGGCTTTGATCGGAGGCCACA	0.582000													4	10					0	0	1	0	0
TNIK	23043	broad.mit.edu	37	3	170802051	170802051	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:170802051G>A	ENST00000436636.2	-	26	3406	c.3062C>T	c.(3061-3063)tCg>tTg	p.S1021L	TNIK_ENST00000357327.5_Missense_Mutation_p.S992L|TNIK_ENST00000460047.1_Missense_Mutation_p.S958L|TNIK_ENST00000369326.5_Missense_Mutation_p.S999L|TNIK_ENST00000341852.6_Missense_Mutation_p.S937L|TNIK_ENST00000488470.1_Missense_Mutation_p.S966L|TNIK_ENST00000284483.8_Missense_Mutation_p.S1013L|TNIK_ENST00000470834.1_Missense_Mutation_p.S984L|TNIK_ENST00000475336.1_Missense_Mutation_p.S929L|TNIK_ENST00000538048.1_Missense_Mutation_p.S973L	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	1021	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			ATTTACCACCGAAATCTTTCT	0.398000													36	53					0	0	1	0	0
CLGN	1047	broad.mit.edu	37	4	141317036	141317036	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:141317036C>T	ENST00000325617.5	-	10	1526	c.1086G>A	c.(1084-1086)atG>atA	p.M362I	CLGN_ENST00000537281.1_Missense_Mutation_p.M362I|CLGN_ENST00000414773.1_Missense_Mutation_p.M362I	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	362					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GGTTATCTATCATGGGAGGTT	0.423000													21	55					0	0	1	0	0
YY1	7528	broad.mit.edu	37	14	100743846	100743846	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:100743846G>T	ENST00000262238.4	+	5	1414	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	385	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.C385F(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCTATGTGTGCCCCTTCGAT	0.463000													7	63					0.00198382	0.00198673	1	1	0
TNFSF14	8740	broad.mit.edu	37	19	6665332	6665332	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6665332C>T	ENST00000326176.9	-	5	601	c.220G>A	c.(220-222)Ggg>Agg	p.G74R	TNFSF14_ENST00000599359.1_Missense_Mutation_p.G110R|TNFSF14_ENST00000245912.3_Missense_Mutation_p.G74R	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	110					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						AACAGCGGCCCCCCGCTGCCG	0.592000													4	9					0	0	1	0	0
MIR1179	100302235	broad.mit.edu	37	15	89151413	89151413	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:89151413C>T	ENST00000408703.1	+	0	76					NR_031590.1																						TGCCATTTATCCTTTTCTGAC	0.438000													33	30					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26821496	26821496	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26821496T>G	ENST00000444914.3	+	9	1841	c.1421T>G	c.(1420-1422)cTg>cGg	p.L474R	SLC13A2_ENST00000314669.5_Missense_Mutation_p.L425R|SLC13A2_ENST00000545060.1_Missense_Mutation_p.L382R|SLC13A2_ENST00000537681.1_Missense_Mutation_p.L354R	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	425						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTGTTATTGCTGGGTGGTGGC	0.612000											OREG0024276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	66	56					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558064	140558064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140558064G>A	ENST00000239444.2	+	1	694	c.449G>A	c.(448-450)gGg>gAg	p.G150E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		150	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G150V(1)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCCTCCTGGGACTGCGTTT	0.418000													64	275					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065889	23065889	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23065889C>T	ENST00000246006.4	-	1	1088	c.941G>A	c.(940-942)gGg>gAg	p.G314E		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	314	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACGTGGCCCCCCCACGACA	0.642000													13	55					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17685796	17685796	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:17685796G>A	ENST00000375448.4	+	15	1677	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K		NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	551					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGGAACCGCGAGCTGCTGAA	0.617000													21	37					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7618858	7618858	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:7618858G>A	ENST00000256861.6	-	10	1614	c.1536C>T	c.(1534-1536)atC>atT	p.I512I	ITIH5_ENST00000397145.2_Silent_p.I512I|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.I512I|ITIH5_ENST00000446830.2_Silent_p.I294I|ITIH5_ENST00000298441.6_Silent_p.I298I	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	512					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCGCAATGATGATCTCCGAGC	0.567000													28	86					0	0	1	0	0
SORCS3	22986	broad.mit.edu	37	10	107005328	107005328	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:107005328C>T	ENST00000369701.3	+	21	3124	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	SORCS3_ENST00000369699.4_3'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	966						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)		AGCAGCATTTCCTTCACATTC	0.448000													19	72					0	0	1	0	0
GCN1L1	10985	broad.mit.edu	37	12	120586088	120586088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:120586088G>A	ENST00000300648.6	-	37	4621	c.4609C>T	c.(4609-4611)Ccc>Tcc	p.P1537S		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1537					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACAATGTTGGGTAGACAGGAT	0.557000													19	43					0	0	1	0	0
BCAN	63827	broad.mit.edu	37	1	156618425	156618425	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:156618425G>A	ENST00000329117.4	+	6	1171	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.E279K	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	279	Link 2.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTACTGCCAGGAGCGGGGTGC	0.617000													38	120					0	0	1	0	0
EPHB3	2049	broad.mit.edu	37	3	184290679	184290679	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184290679C>T	ENST00000330394.2	+	3	1023	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	191						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TGGCTTCTACCTGGCCTTCCA	0.622000													22	22					0	0	1	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20874853	20874853	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:20874853G>A	ENST00000381552.1	+	8	1259	c.891G>A	c.(889-891)aaG>aaA	p.K297K	SLCO1C1_ENST00000540354.1_Silent_p.K248K|SLCO1C1_ENST00000545604.1_Silent_p.K297K|SLCO1C1_ENST00000266509.2_Silent_p.K297K|SLCO1C1_ENST00000545102.1_Silent_p.K179K			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	297					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					ATTTACCAAAGAGTTTACCAA	0.443000													6	19					0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433728	72433728	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:72433728C>T	ENST00000373517.3	-	1	956	c.601G>A	c.(601-603)Gat>Aat	p.D201N	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D59N	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	201	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)					TCATAACCATCGTCCTCATCC	0.423000													33	9					0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8942930	8942930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:8942930C>T	ENST00000326053.5	-	6	1443	c.1337G>A	c.(1336-1338)gGg>gAg	p.G446E	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	446								p.G446E(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)		TTCAGCTTCCCCTGGCGGGGT	0.522000													23	80					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2089982	2089982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2089982G>A	ENST00000544865.1	-	12	3547	c.3037C>T	c.(3037-3039)Ccc>Tcc	p.P1013S	SMG6_ENST00000536871.2_Missense_Mutation_p.P136S|SMG6_ENST00000354901.4_Missense_Mutation_p.P136S|SMG6_ENST00000263073.5_Missense_Mutation_p.P1044S			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	1044					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGGGATGTGGGAGGAGGATTC	0.592000													15	30					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138447681	138447681	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138447681C>T	ENST00000310018.2	-	6	663	c.381G>A	c.(379-381)ctG>ctA	p.L127L	ATP6V0A4_ENST00000393054.1_Silent_p.L127L|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.L127L	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	127					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGAGGTATTTCAGTTCTGTCA	0.453000													26	92					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22291921	22291921	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:22291921C>T	ENST00000323684.1	+	1	857	c.813C>T	c.(811-813)tcC>tcT	p.S271S		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	271	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						CGGTATCGTCCCCTCATCATA	0.433000													63	7					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454532	179454532	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179454532G>A	ENST00000589042.1	-	304	62144	c.61920C>T	c.(61918-61920)ttC>ttT	p.F20640F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.F18072F|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.F11575F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.F11700F|TTN_ENST00000342175.6_Silent_p.F11767F|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Silent_p.F18999F|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18999							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAAACTCGGAAATAGTATT	0.413000													68	63					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13769652	13769652	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13769652C>T	ENST00000265104.4	-	57	9782	c.9678G>A	c.(9676-9678)gcG>gcA	p.A3226A	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3226	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTTTCTTTCGCTTCCAGTT	0.433000									Kartagener syndrome				95	36					0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42824580	42824580	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:42824580G>A	ENST00000398600.2	+	18	2567	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E	MX1_ENST00000288383.6_Silent_p.E491E|MX1_ENST00000455164.2_Silent_p.E514E|MX1_ENST00000398598.3_Silent_p.E514E	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	514					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGAACAAGAGAGAGAAGGTG	0.433000													22	82					0	0	1	0	0
OR2T2	401992	broad.mit.edu	37	1	248616751	248616751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248616751C>T	ENST00000342927.3	+	1	675	c.653C>T	c.(652-654)tCc>tTc	p.S218F		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTCTGTCTCCTACACGCAC	0.532000													18	90					0	0	1	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138714533	138714533	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138714533G>A	ENST00000389532.4	-	11	2038	c.1974C>T	c.(1972-1974)ttC>ttT	p.F658F	CAMSAP1_ENST00000312405.6_Silent_p.F380F|CAMSAP1_ENST00000409386.3_Silent_p.F669F|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	658						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGCCCATGGGGAATTCTGAGC	0.592000													15	18					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137852460	137852460	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:137852460C>T	ENST00000409968.1	+	4	1146	c.968C>T	c.(967-969)tCc>tTc	p.S323F	THSD7B_ENST00000413152.2_Missense_Mutation_p.S292F|THSD7B_ENST00000272643.3_Missense_Mutation_p.S323F|THSD7B_ENST00000543459.1_Missense_Mutation_p.S182F					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTTCAAGATTCCTTCCCATTG	0.448000													25	78					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35876216	35876216	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35876216G>A	ENST00000303115.3	+	8	1137	c.1008G>A	c.(1006-1008)gaG>gaA	p.E336E	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	336					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AAGAATCTGAGAAGCAGAGGC	0.488000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						36	19					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	344305	344305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:344305C>T	ENST00000343164.4	-	7	834	c.782G>A	c.(781-783)gGa>gAa	p.G261E	SLC6A13_ENST00000445055.2_Missense_Mutation_p.G169E	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	261					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			AAACTGAATTCCTTGGGCTGC	0.557000													19	64					0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516287	138516287	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138516287G>A	ENST00000371763.1	-	5	740	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	163					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ACCTCGTCCTGGATGTGACTG	0.597000													11	10					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735196	54735196	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54735196G>A	ENST00000306858.7	+	2	268	c.152G>A	c.(151-153)cGa>cAa	p.R51Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	51										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GTCCAGGAACGAGTTTCAGAC	0.383000													21	86					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10432708	10432708	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10432708C>T	ENST00000245503.5	-	25	3592	c.3208G>A	c.(3208-3210)Gaa>Aaa	p.E1070K	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E1070K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1070					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP 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						ATTATGGATTCTTGGGCCAAC	0.378000													17	56					0	0	1	0	0
VPS51	738	broad.mit.edu	37	11	64863934	64863934	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64863934A>G	ENST00000279281.3	+	1	304	c.212A>G	c.(211-213)gAa>gGa	p.E71G		NM_013265.2	NP_037397.2			vacuolar protein sorting 51 homolog (S. cerevisiae)																		TTCGACCCGGAAGTTTACCTA	0.672000													5	11					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735218	55735218	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55735218A>T	ENST00000312345.2	-	1	772	c.722T>A	c.(721-723)tTa>tAa	p.L241*		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					TCCAAAGAATAAGATTACAAC	0.388000													9	27					0	0	1	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103404490	103404490	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:103404490G>A	ENST00000361246.2	-	36	5243	c.4955C>T	c.(4954-4956)aCt>aTt	p.T1652I		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1652					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAGAGGCACAGTCACGCTAGG	0.532000													42	67					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647555	38647555	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38647555G>A	ENST00000413689.1	-	10	1418	c.1225C>T	c.(1225-1227)Ctg>Ttg	p.L409L	SCN5A_ENST00000423572.2_Silent_p.L409L|SCN5A_ENST00000414099.2_Silent_p.L409L|SCN5A_ENST00000443581.1_Silent_p.L409L|SCN5A_ENST00000333535.4_Silent_p.L409L|SCN5A_ENST00000451551.2_Silent_p.L409L|SCN5A_ENST00000449557.2_Silent_p.L409L|SCN5A_ENST00000425664.1_Silent_p.L409L|SCN5A_ENST00000455624.2_Silent_p.L409L|SCN5A_ENST00000450102.2_Silent_p.L409L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	409					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ACCACGGCCAGGATCAGGTTC	0.557000													16	36					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515731	70515731	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:70515731C>T	ENST00000381269.2	-	7	2913	c.2160G>A	c.(2158-2160)ggG>ggA	p.G720G	SLC8A3_ENST00000394330.2_Silent_p.G77G|SLC8A3_ENST00000533541.1_Silent_p.G77G|SLC8A3_ENST00000216568.7_Silent_p.G91G|SLC8A3_ENST00000356921.2_Silent_p.G714G|SLC8A3_ENST00000534137.1_Silent_p.G717G|SLC8A3_ENST00000357887.3_Silent_p.G718G|SLC8A3_ENST00000528359.1_Silent_p.G718G	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	720					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G718G(1)|p.G720G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GCCTCTCCTCCCCGGATTCAT	0.527000													10	29					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283847	152283847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152283847C>T	ENST00000368799.1	-	3	3550	c.3515G>A	c.(3514-3516)aGg>aAg	p.R1172K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1172	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCTCTCCTTGACCCCGG	0.592000									Ichthyosis				126	551					0	0	1	0	0
BTBD16	118663	broad.mit.edu	37	10	124045676	124045676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124045676C>T	ENST00000368994.2	+	5	552	c.301C>T	c.(301-303)Cag>Tag	p.Q101*	BTBD16_ENST00000260723.4_Nonsense_Mutation_p.Q100*			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	100										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CCAGCTTTTTCAGTCTGAGAC	0.557000													34	91					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45297532	45297532	+	Silent	SNP	G	G	A	rs148527231		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45297532G>A	ENST00000270279.3	+	9	1419	c.1356G>A	c.(1354-1356)ccG>ccA	p.P452P	CBLC_ENST00000341505.4_Silent_p.P406P	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	452					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.P452P(1)		breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ATGCCCAGCCGAAAGTGGTGA	0.662000			M		AML								132	114					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145018030	145018030	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:145018030G>T	ENST00000354589.3	-	1	96	c.29C>A	c.(28-30)tCc>tAc	p.S10Y	PLEC_ENST00000527096.1_Intron|PLEC_ENST00000398774.2_Intron|PLEC_ENST00000322810.4_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201382.2	NP_958784.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AACCACCAGGGAGGGAAACAG	0.706000													12	5					9.05144e-12	9.12488e-12	1	1	0
TEX15	56154	broad.mit.edu	37	8	30700699	30700699	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30700699G>A	ENST00000256246.2	-	1	5909	c.5835C>T	c.(5833-5835)tcC>tcT	p.S1945S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1945										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCCCAATAGGGGAAATTGGTT	0.338000													43	22					0	0	1	0	0
MMP7	4316	broad.mit.edu	37	11	102394020	102394020	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:102394020T>C	ENST00000260227.4	-	5	778	c.726A>G	c.(724-726)caA>caG	p.Q242Q		NM_002423.3	NP_002414.1	P09237	MMP7_HUMAN	matrix metallopeptidase 7 (matrilysin, uterine)	242					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		GTTTAAAATTTTGGGGATCTC	0.353000													11	24					0	0	1	0	0
SLC9C2	284525	broad.mit.edu	37	1	173493234	173493234	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:173493234C>T	ENST00000367714.3	-	21	2937		c.e21-1		SLC9C2_ENST00000466087.1_Splice_Site	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)						sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										TAAGAAGTACCTAAAAACAAA	0.348000													17	16					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118982318	118982318	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:118982318C>T	ENST00000328252.3	+	5	2390	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	674					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAACCAGCGCCTGTTGCCCTC	0.577000													28	36					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147202	154147202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:154147202G>A	ENST00000389740.2	-	1	302	c.203C>T	c.(202-204)tCc>tTc	p.S68F		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	68						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACAAGCATGGACACAACAGT	0.468000													28	61					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117907478	117907478	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117907478C>T	ENST00000425217.1	-	19	2802	c.2748G>A	c.(2746-2748)tgG>tgA	p.W916*	KSR2_ENST00000339824.5_Nonsense_Mutation_p.W945*|KSR2_ENST00000302438.5_3'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	945	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.W977*(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTGCAGACTTCCAGAAATGTC	0.493000													3	19					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36896877	36896877	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36896877C>T	ENST00000301807.6	-	12	4451	c.2554G>A	c.(2554-2556)Gag>Aag	p.E852K	TRANK1_ENST00000428977.2_Missense_Mutation_p.E852K|TRANK1_ENST00000429976.2_Missense_Mutation_p.E1402K	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1402					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						AGCGCCAGCTCGGCCTGGGTA	0.557000													61	104					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25776970	25776970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:25776970G>A	ENST00000397076.2	+	5	747	c.445G>A	c.(445-447)Gga>Aga	p.G149R	SLC17A4_ENST00000377905.4_Intron|SLC17A4_ENST00000439485.2_Intron			Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	374					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGAGAGACTGGACACAGGGG	0.512000													14	89					0	0	1	0	0
DUOX2	50506	broad.mit.edu	37	15	45392024	45392024	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45392024C>T	ENST00000389039.6	-	25	3636	c.3251G>A	c.(3250-3252)cGa>cAa	p.R1084Q	DUOX2_ENST00000603300.1_Missense_Mutation_p.R1084Q			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1084	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CGCCGTGCCTCGTGACAGGAT	0.567000													17	48					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407230	55407230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:55407230C>T	ENST00000341048.4	-	10	1496	c.1345G>A	c.(1345-1347)Gcc>Acc	p.A449T	ANKRD55_ENST00000504958.2_Missense_Mutation_p.A406T|ANKRD55_ENST00000434982.2_Missense_Mutation_p.A161T	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	448										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CTATGGGAGGCTGTTAGGAAG	0.507000													13	25					0	0	1	0	0
IDH3G	3421	broad.mit.edu	37	X	153055703	153055703	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153055703G>A	ENST00000370092.3	-	4	365	c.180C>T	c.(178-180)atC>atT	p.I60I	IDH3G_ENST00000217901.5_Silent_p.I60I|IDH3G_ENST00000370093.1_Silent_p.I60I|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000427365.2_Silent_p.I2I	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	60					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CATCCCCTGGGATCATGGTCA	0.657000													39	2					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829230	57829230	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57829230C>T	ENST00000371030.2	+	5	4466	c.4466C>T	c.(4465-4467)tCt>tTt	p.S1489F		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1489						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ATTGCTACCTCTGTGGCTGCC	0.493000													25	136					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71493780	71493780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:71493780C>T	ENST00000296755.7	+	5	4896	c.4598C>T	c.(4597-4599)cCt>cTt	p.P1533L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1533						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCAGCTACTCCTGTTGATGAG	0.473000													14	32					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39607206	39607206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39607206C>T	ENST00000265708.4	-	17	1958	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	ADAM2_ENST00000521880.1_Missense_Mutation_p.D556N|ADAM2_ENST00000347580.4_Missense_Mutation_p.D600N|ADAM2_ENST00000379853.2_Missense_Mutation_p.D463N	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	619	EGF-like.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTGCATTTGTCAGTAGTACAA	0.358000													27	67					0	0	1	0	0
SDC4	6385	broad.mit.edu	37	20	43959098	43959098	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43959098G>A	ENST00000372733.3	-	4	392	c.353C>T	c.(352-354)cCc>cTc	p.P118L	SDC4_ENST00000537976.1_Missense_Mutation_p.P46L	NM_002999.3	NP_002990.2	P31431	SDC4_HUMAN	syndecan 4	118						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				CTCTTCAACGGGTGAGATTCT	0.527000			T	ROS1	NSCLC								37	35					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133434021	133434021	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:133434021G>A	ENST00000266880.7	-	9	1135	c.1072C>T	c.(1072-1074)Ctc>Ttc	p.L358F	CHFR_ENST00000432561.2_Missense_Mutation_p.L358F|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Missense_Mutation_p.L346F|CHFR_ENST00000315585.7_Missense_Mutation_p.L317F|CHFR_ENST00000443047.2_Missense_Mutation_p.L266F			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	358					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.L317V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GCTTCCACGAGGTTGTTGAGG	0.632000													21	49					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949819	70949819	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70949819C>T	ENST00000334414.6	-	19	4868	c.4824G>A	c.(4822-4824)cgG>cgA	p.R1608R	PTPRB_ENST00000538708.1_Silent_p.R1300R|PTPRB_ENST00000451516.2_Silent_p.R1300R|PTPRB_ENST00000261266.5_Silent_p.R1390R|PTPRB_ENST00000550857.1_Silent_p.R1300R|PTPRB_ENST00000550358.1_Silent_p.R1520R	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1390					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGTCCATTTTCCGGCATTCAA	0.458000													10	38					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17698906	17698906	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17698906G>A	ENST00000399080.2	-	1	800	c.777C>T	c.(775-777)gtC>gtT	p.V259V		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	259										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAAACTGAGGGACACTTATTG	0.353000													19	84					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152471012	152471012	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:152471012G>A	ENST00000397345.3	-	77	11581	c.11379C>T	c.(11377-11379)atC>atT	p.I3793I	NEB_ENST00000172853.10_Silent_p.I3550I|NEB_ENST00000604864.1_Silent_p.I3793I|NEB_ENST00000603639.1_Silent_p.I3793I|NEB_ENST00000409198.1_Silent_p.I3550I|NEB_ENST00000427231.2_Silent_p.I3793I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	3793					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGCCACATGGATGGACCACA	0.507000													34	103					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2807782	2807782	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2807782C>T	ENST00000520002.1	-	68	10843	c.10288G>A	c.(10288-10290)Gaa>Aaa	p.E3430K	CSMD1_ENST00000400186.3_Missense_Mutation_p.E3253K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E3430K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E3429K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E3252K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E3253K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3430						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGTCATTTTCGAACTTGCTT	0.423000													27	128					0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38266089	38266089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38266089C>T	ENST00000311806.3	+	8	1102	c.730C>T	c.(730-732)Cct>Tct	p.P244S	OXSR1_ENST00000446845.1_Missense_Mutation_p.P244S	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN	oxidative stress responsive 1	244	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCAGAACGATCCTCCTTCTTT	0.318000													24	12					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20403808	20403808	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:20403808G>A	ENST00000381150.1	-	4	783	c.393C>T	c.(391-393)ctC>ctT	p.L131L	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Silent_p.L131L|SDC1_ENST00000254351.4_Silent_p.L131L	NM_001006946.1	NP_001006947.1	P18827	SDC1_HUMAN	syndecan 1	131					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GAGTGGTCGGGAGCTGTGTGG	0.692000													40	118					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179566899	179566899	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179566899C>T	ENST00000589042.1	-	108	30731	c.30507G>A	c.(30505-30507)acG>acA	p.T10169T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T8925T|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.T9852T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9852	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCACCTTTCGTCGTTAGGT	0.458000													12	18					0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156866176	156866176	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:156866176G>A	ENST00000295926.3	-	11	1553	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	479					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			GAGTGATCCCGAGACTTGCTC	0.453000													27	89					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41820156	41820156	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:41820156G>A	ENST00000304330.4	-	11	1446	c.1330C>T	c.(1330-1332)Ctc>Ttc	p.L444F	RPAP1_ENST00000561603.1_Missense_Mutation_p.L444F	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	444						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGTAGGAAGAGGAAACCAGCA	0.577000													4	22					0	0	1	0	0
KSR1	8844	broad.mit.edu	37	17	25909935	25909935	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:25909935C>T	ENST00000398988.3	+	5	818	c.373C>T	c.(373-375)Ccc>Tcc	p.P125S	KSR1_ENST00000509603.2_Missense_Mutation_p.P262S|KSR1_ENST00000268763.6_Missense_Mutation_p.P125S|KSR1_ENST00000319524.6_Missense_Mutation_p.P262S	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	260					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGGCTGACCCCCCGTGCCCT	0.697000													8	20					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90874525	90874525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:90874525C>T	ENST00000394980.1	+	9	3962	c.3643C>T	c.(3643-3645)Ccc>Tcc	p.P1215S	MMRN1_ENST00000264790.2_Missense_Mutation_p.P1215S|MMRN1_ENST00000508372.1_Missense_Mutation_p.P957S|MMRN1_ENST00000394981.1_Missense_Mutation_p.P518S			Q13201	MMRN1_HUMAN	multimerin 1	1215	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGCCAAGTTTCCCCCTGTTAC	0.363000													31	24					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872519	51872519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:51872519G>A	ENST00000371497.5	+	2	3409	c.2522G>A	c.(2521-2523)aGa>aAa	p.R841K	TSHZ2_ENST00000603338.2_Missense_Mutation_p.R838K|TSHZ2_ENST00000329613.6_Missense_Mutation_p.R838K|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	841					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TTGCATAAAAGAAAAGGCCGG	0.527000													12	100					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38647622	38647622	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38647622C>T	ENST00000413689.1	-	10	1351	c.1158G>A	c.(1156-1158)ggG>ggA	p.G386G	SCN5A_ENST00000423572.2_Silent_p.G386G|SCN5A_ENST00000414099.2_Silent_p.G386G|SCN5A_ENST00000443581.1_Silent_p.G386G|SCN5A_ENST00000333535.4_Silent_p.G386G|SCN5A_ENST00000451551.2_Silent_p.G386G|SCN5A_ENST00000449557.2_Silent_p.G386G|SCN5A_ENST00000425664.1_Silent_p.G386G|SCN5A_ENST00000455624.2_Silent_p.G386G|SCN5A_ENST00000450102.2_Silent_p.G386G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	386					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TGTAGATCTTCCCTGCGGACC	0.557000													8	25					0	0	1	0	0
SP100	6672	broad.mit.edu	37	2	231314937	231314937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:231314937G>A	ENST00000264052.5	+	8	1142	c.787G>A	c.(787-789)Gag>Aag	p.E263K	SP100_ENST00000340126.4_Missense_Mutation_p.E263K|SP100_ENST00000409341.1_Missense_Mutation_p.E263K|SP100_ENST00000409824.1_Missense_Mutation_p.E238K|SP100_ENST00000341950.4_Missense_Mutation_p.E263K|SP100_ENST00000409897.1_Missense_Mutation_p.E228K|SP100_ENST00000427101.2_Missense_Mutation_p.E238K|SP100_ENST00000409112.1_Missense_Mutation_p.E263K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	263					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGCTGGAAGGGAGATGCCCTG	0.448000													23	46					0	0	1	0	0
MUC5AC	4586	broad.mit.edu	37	11	1162206	1162206	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1162206G>A	ENST00000356191.2	+	20	1706	c.1706G>A	c.(1705-1707)gGg>gAg	p.569_569insE						mucin 5AC, oligomeric mucus/gel-forming											NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	203		all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724)		GGTCTCTGTGGGAACTTCAAC	0.647000													3	11					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100210308	100210308	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:100210308G>A	ENST00000317233.4	-	14	2050	c.1815C>T	c.(1813-1815)ccC>ccT	p.P605P	AFF3_ENST00000409236.1_Silent_p.P605P|AFF3_ENST00000409579.1_Silent_p.P630P|AFF3_ENST00000356421.2_Silent_p.P630P	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	605					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCTCCTCGGGCCGGTGGC	0.751000													4	12					0	0	1	0	0
XIRP1	165904	broad.mit.edu	37	3	39230591	39230591	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39230591C>T	ENST00000340369.3	-	2	574	c.346G>A	c.(346-348)Gag>Aag	p.E116K	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Missense_Mutation_p.E116K	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	116							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGCACGGGCTCCTTGGCAGCT	0.607000													24	56					0	0	1	0	0
CDON	50937	broad.mit.edu	37	11	125887045	125887045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:125887045G>A	ENST00000392693.3	-	6	993	c.866C>T	c.(865-867)tCc>tTc	p.S289F	CDON_ENST00000263577.7_Missense_Mutation_p.S289F	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	289	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CGCCATGCAGGAATAGTTTCC	0.433000													9	17					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72622457	72622457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:72622457C>T	ENST00000273951.8	-	8	1349	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	GC_ENST00000513476.1_Missense_Mutation_p.D336N|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.D355N	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	336	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTCCTGGATCACACACATCT	0.453000													12	29					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724984	49724984	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49724984C>T	ENST00000551245.1	+	13	2467	c.2356C>T	c.(2356-2358)Cca>Tca	p.P786S	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000547923.1_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						TCTAAATTTTCCATGCCCCTC	0.582000													16	20					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82390765	82390765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82390765C>T	ENST00000333891.8	-	23	15389	c.15052G>A	c.(15052-15054)Gaa>Aaa	p.E5018K		NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4941	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTCTTCATTTCCTTCTTCAAT	0.313000													18	10					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	96999369	96999369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:96999369C>T	ENST00000369278.4	+	16	1945	c.1879C>T	c.(1879-1881)Cat>Tat	p.H627Y		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	627					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										TACAAAACTCCATAACTCTCT	0.299000													12	32					0	0	1	0	0
FAM107B	83641	broad.mit.edu	37	10	14709678	14709678	+	Nonsense_Mutation	SNP	G	G	A	rs111681891		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:14709678G>A	ENST00000181796.2	-	2	657	c.424C>T	c.(424-426)Cga>Tga	p.R142*		NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	74										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGTTCTTCTCGAAATTCTTCT	0.423000													15	47					0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160831821	160831821	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160831821G>A	ENST00000392145.1	+	5	945	c.918G>A	c.(916-918)caG>caA	p.Q306Q	SLC22A3_ENST00000275300.2_Silent_p.Q306Q			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	306						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		AAGCATTACAGATCCTGAGAC	0.428000													13	22					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76482354	76482354	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76482354G>A	ENST00000389840.5	-	45	7135	c.7011C>T	c.(7009-7011)ttC>ttT	p.F2337F	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.F2346F					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGGTGAACACGAAGTACAGCT	0.627000													16	55					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199670	71199670	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:71199670G>A	ENST00000554752.2	-	11	2415	c.2416C>T	c.(2416-2418)Cgg>Tgg	p.R806W	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R783W|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R820W|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R539W|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R534W			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	806					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CTGGTGCTCCGACGAGGACGG	0.622000													22	19					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68248109	68248109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:68248109G>A	ENST00000347230.4	-	22	4648	c.4510C>T	c.(4510-4512)Caa>Taa	p.Q1504*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.Q1504*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1504					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCCTTCTTGGACAGCCGTG	0.552000													36	124					0	0	1	0	0
RFX2	5990	broad.mit.edu	37	19	6040132	6040132	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6040132G>A	ENST00000303657.5	-	5	530	c.381C>T	c.(379-381)gtC>gtT	p.V127V	RFX2_ENST00000592546.1_Silent_p.V127V|RFX2_ENST00000359161.3_Silent_p.V127V	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGTGGGAGGGGACCGCTGGCG	0.682000													26	26					0	0	1	0	0
TM4SF1	4071	broad.mit.edu	37	3	149095243	149095243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:149095243G>A	ENST00000305366.3	-	1	409	c.92C>T	c.(91-93)cCc>cTc	p.P31L		NM_014220.2	NP_055035.1	P30408	T4S1_HUMAN	transmembrane 4 L six family member 1	31						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTCCCCATTGGGAAAGTAAAG	0.527000													16	43					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941995	144941995	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144941995C>T	ENST00000525985.1	-	2	5498	c.5427G>A	c.(5425-5427)agG>agA	p.R1809R				P58107	EPIPL_HUMAN	epiplakin 1	1809						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTCCCGCTTCCTGTCCTCTG	0.527000													43	57					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940309	22940309	+	Missense_Mutation	SNP	G	G	A	rs71357942		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22940309G>A	ENST00000397104.3	-	5	2128	c.2129C>T	c.(2128-2130)tCc>tTc	p.S710F	ZNF99_ENST00000596209.1_Missense_Mutation_p.S801F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGTTGAGGAATTGTTAAA	0.333000													6	21					0	0	1	0	0
NPC1	4864	broad.mit.edu	37	18	21119817	21119817	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:21119817G>A	ENST00000269228.5	-	18	3307	c.2753C>T	c.(2752-2754)tCc>tTc	p.S918F	NPC1_ENST00000412552.2_Missense_Mutation_p.S600F|NPC1_ENST00000540608.1_5'UTR	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	918					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGCACCAGGGAATCATTGTT	0.572000													24	22					0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649681	47649681	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:47649681C>T	ENST00000398742.2	+	5	1231	c.1182C>T	c.(1180-1182)atC>atT	p.I394I	GPR111_ENST00000507065.1_Silent_p.I394I|GPR111_ENST00000296862.1_Silent_p.I462I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	462	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GCAGCCTGATCCTTTGCTTGT	0.433000													17	121					0	0	1	0	0
EHD3	30845	broad.mit.edu	37	2	31483546	31483546	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31483546G>A	ENST00000322054.5	+	4	958	c.673G>A	c.(673-675)Gag>Aag	p.E225K	EHD3_ENST00000541626.1_Intron	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	225					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGACCAGATCGAGACGCAGCA	0.552000													27	64					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54919113	54919113	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:54919113C>T	ENST00000545554.1	+	32	6447	c.6447C>T	c.(6445-6447)atC>atT	p.I2149I	UNC13C_ENST00000260323.11_Silent_p.I2149I|UNC13C_ENST00000537900.1_Silent_p.I2147I|UNC13C_ENST00000539562.2_Silent_p.I70I			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	2149	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCGAATTATCGGAATGACAG	0.413000													24	61					0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130222720	130222720	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:130222720G>A	ENST00000276211.5	+	12	1950	c.1605G>A	c.(1603-1605)gaG>gaA	p.E535E	ARHGAP36_ENST00000370921.1_Silent_p.E399E|ARHGAP36_ENST00000370922.1_Silent_p.E523E	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	535					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCCCCGGGAGAAGGAGGCCA	0.572000													21	22					0	0	1	0	0
AK7	122481	broad.mit.edu	37	14	96924441	96924441	+	Missense_Mutation	SNP	G	G	A	rs111905580		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:96924441G>A	ENST00000267584.4	+	12	1293	c.1249G>A	c.(1249-1251)Gat>Aat	p.D417N		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	417	Adenylate kinase.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TGCCCCTAACGATGTagggga	0.502000													19	38					0	0	1	0	0
MAGEA12	4111	broad.mit.edu	37	X	151900372	151900372	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:151900372G>A	ENST00000393900.3	-	3	782	c.429C>T	c.(427-429)ttC>ttT	p.F143F	MAGEA12_ENST00000393869.3_Silent_p.F143F|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.F143F	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	143	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AGAAGTCCTGGAAATTTCTGA	0.507000													64	44					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50819730	50819730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50819730G>A	ENST00000374115.3	+	1	1384	c.944G>A	c.(943-945)tGg>tAg	p.W315*	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	315					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						ATTGCCACGTGGATGAAGCAT	0.637000													17	62					0	0	1	0	0
PFDN2	5202	broad.mit.edu	37	1	161072116	161072116	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:161072116G>A	ENST00000368010.3	-	2	209	c.125C>T	c.(124-126)tCc>tTc	p.S42F	PFDN2_ENST00000468311.1_Intron	NM_012394.3	NP_036526.2	Q9UHV9	PFD2_HUMAN	prefoldin subunit 2	42					'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTGCTTTGGATGCCAGGCC	0.537000													47	120					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762131	130762131	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:130762131G>C	ENST00000392429.1	+	2	2942	c.564G>C	c.(562-564)ttG>ttC	p.L188F	TMEM200A_ENST00000296978.3_Missense_Mutation_p.L188F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.L188F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	188						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		ACACTGGTTTGATGGGAGAAA	0.448000													7	13					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183675765	183675765	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:183675765C>T	ENST00000511685.1	+	22	4368	c.4245C>T	c.(4243-4245)gtC>gtT	p.V1415V	TENM3_ENST00000406950.2_Silent_p.V1415V|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		ACAGTGGGGTCCTGTACATTA	0.502000													11	30					0	0	1	0	0
KDM4E	390245	broad.mit.edu	37	11	94759406	94759406	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:94759406C>T	ENST00000450979.2	+	1	985	c.685C>T	c.(685-687)Cca>Tca	p.P229S		NM_001161630.1	NP_001155102.1	B2RXH2	KD4DL_HUMAN	lysine (K)-specific demethylase 4E	229	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(7)|kidney(1)|lung(3)	12						GGAGCTCTTCCCAGACATTTC	0.552000													5	12					0	0	1	0	0
SLC22A8	9376	broad.mit.edu	37	11	62762117	62762117	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62762117G>A	ENST00000336232.2	-	8	1248	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	SLC22A8_ENST00000545207.1_Silent_p.F280F|SLC22A8_ENST00000535878.1_Silent_p.F248F|SLC22A8_ENST00000311438.8_Silent_p.F371F|SLC22A8_ENST00000430500.2_Silent_p.F371F	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	371					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GGATGGTGATGAACTTGGCTG	0.547000													4	35					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383097	22383097	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:22383097C>T	ENST00000328795.4	+	1	716	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GATGACACTCCTGTGCTTTCT	0.527000													18	74					0	0	1	0	0
PBX4	80714	broad.mit.edu	37	19	19681040	19681040	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:19681040G>A	ENST00000251203.8	-	4	796	c.510C>T	c.(508-510)tcC>tcT	p.S170S		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4	170							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						TCTCCTTAGGGGAGACAGGCC	0.617000													16	36					0	0	1	0	0
RRP12	23223	broad.mit.edu	37	10	99126654	99126654	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:99126654C>A	ENST00000370992.4	-	27	3171	c.3060G>T	c.(3058-3060)gtG>gtT	p.V1020V	RRP12_ENST00000536831.1_Silent_p.V738V|RRP12_ENST00000414986.1_Silent_p.V959V|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Silent_p.V920V	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	1020						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		ACAGCCTTTTCACCAGCTCAA	0.612000													47	112					1.61863e-15	1.63447e-15	1	1	0
TMEM41B	440026	broad.mit.edu	37	11	9305015	9305015	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:9305015G>A	ENST00000528080.1	-	7	1170	c.832C>T	c.(832-834)Ctg>Ttg	p.L278L		NM_015012.3	NP_055827.1	Q5BJD5	TM41B_HUMAN	transmembrane protein 41B	278						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		ATGGCTGGCAGAATAGAAAGA	0.363000													12	18					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101565009	101565009	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:101565009T>C	ENST00000284395.5	+	17	2460	c.2058_splice	c.e17-1	p.V687_splice	LRRK1_ENST00000388948.3_Splice_Site_p.V690_splice			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	690	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTCAAGTAGGTTGAGTCCGTG	0.562000													65	74					0	0	1	0	0
C4orf26	152816	broad.mit.edu	37	4	76489685	76489685	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:76489685A>T	ENST00000435974.2	+	3	491	c.473A>T	c.(472-474)aAa>aTa	p.K158I	C4orf26_ENST00000311623.4_3'UTR	NM_001206981.1	NP_001193910.1	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	0						extracellular region				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			GAAGCAAAAAAAAGCCTATCC	0.363000													61	50					0	0	1	0	0
KLHL20	27252	broad.mit.edu	37	1	173703100	173703100	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:173703100C>T	ENST00000209884.4	+	3	408	c.272C>T	c.(271-273)cCc>cTc	p.P91L	KLHL20_ENST00000546011.1_Intron|KLHL20_ENST00000493170.1_3'UTR	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	91	BTB.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GCCTGTAGTCCCTACTTCCGA	0.478000													18	98					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15166846	15166846	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:15166846G>A	ENST00000427043.3	+	7	983	c.675G>A	c.(673-675)agG>agA	p.R225R	CASP14_ENST00000221740.1_Silent_p.R225R	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	225					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						GAAAAGCAAGGAAAACGAACC	0.512000													7	9					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896133	52896133	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:52896133G>A	ENST00000354452.3	-	18	2435	c.1824C>T	c.(1822-1824)ctC>ctT	p.L608L	TCF4_ENST00000568673.1_Silent_p.L584L|TCF4_ENST00000565018.2_Silent_p.L608L|TCF4_ENST00000570177.2_Silent_p.L474L|TCF4_ENST00000566279.1_Silent_p.L548L|TCF4_ENST00000540999.1_Silent_p.L580L|TCF4_ENST00000457482.3_Silent_p.L448L|TCF4_ENST00000568740.1_Silent_p.L579L|TCF4_ENST00000564999.1_Silent_p.L604L|TCF4_ENST00000543082.1_Silent_p.L562L|TCF4_ENST00000356073.4_Silent_p.L604L|TCF4_ENST00000567880.1_Silent_p.L544L|TCF4_ENST00000570287.2_Silent_p.L444L|TCF4_ENST00000561831.3_Silent_p.L444L|TCF4_ENST00000544241.2_Silent_p.L537L|TCF4_ENST00000561992.1_Silent_p.L474L|TCF4_ENST00000398339.1_Silent_p.L710L|TCF4_ENST00000564228.1_Silent_p.L533L|TCF4_ENST00000537578.1_Silent_p.L584L|TCF4_ENST00000564403.2_Silent_p.L614L|TCF4_ENST00000537856.3_Silent_p.L474L|TCF4_ENST00000566286.1_Silent_p.L601L	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	604	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|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|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGAGGATCAGGAGCTTGGTCT	0.622000													12	25					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3216769	3216769	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3216769G>A	ENST00000520002.1	-	22	3767	c.3212C>T	c.(3211-3213)tCc>tTc	p.S1071F	CSMD1_ENST00000539096.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000400186.3_Missense_Mutation_p.S1071F|CSMD1_ENST00000602557.1_Missense_Mutation_p.S1071F|CSMD1_ENST00000537824.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000542608.1_Missense_Mutation_p.S1070F|CSMD1_ENST00000602723.1_Missense_Mutation_p.S1071F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1071	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CAGGAAGCAGGAAAACGTCAG	0.557000													26	84					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284957	223284957	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:223284957G>A	ENST00000540964.1	-	4	1878	c.1417C>T	c.(1417-1419)Ccc>Tcc	p.P473S	TLR5_ENST00000342210.6_Missense_Mutation_p.P473S			O60602	TLR5_HUMAN	toll-like receptor 5	473			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TCTAAGCTGGGATTCTCTGAA	0.423000													43	65					0	0	1	0	0
UNC79	57578	broad.mit.edu	37	14	94158136	94158136	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94158136C>T	ENST00000553484.1	+	48	7651	c.7497C>T	c.(7495-7497)atC>atT	p.I2499I	UNC79_ENST00000393151.2_Silent_p.I2477I|UNC79_ENST00000555664.1_Silent_p.I2438I|UNC79_ENST00000256339.4_Silent_p.I2300I			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2477						integral to membrane				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACGCGTTCATCTTTGCTCAGC	0.522000													11	72					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25749151	25749151	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:25749151C>T	ENST00000586223.1	+	0	1052					NR_033892.1																						GACACCAGATCGTTTTCTGCC	0.517000													5	6					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225588	21225588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21225588G>A	ENST00000233242.1	-	29	12833	c.12706C>T	c.(12706-12708)Cat>Tat	p.H4236Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4236					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAACCATTATGGACTTTCGAA	0.408000													519	194					0	0	1	0	0
RNASE3	6037	broad.mit.edu	37	14	21360231	21360231	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21360231C>T	ENST00000304639.3	+	2	444	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	129					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GCAGACAGACCAGGAAGGAGG	0.473000													17	60					0	0	1	0	0
MBL2	4153	broad.mit.edu	37	10	54530530	54530530	+	Silent	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:54530530G>T	ENST00000373968.3	-	2	268	c.204C>A	c.(202-204)ggC>ggA	p.G68G	MBL2_ENST00000493043.1_5'UTR	NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	68	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						GGCCCTGTAAGCCTCTGAGCC	0.522000													38	96					1.62957e-23	1.6504e-23	1	1	0
MYH2	4620	broad.mit.edu	37	17	10451065	10451065	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10451065C>T	ENST00000245503.5	-	3	557	c.173G>A	c.(172-174)gGa>gAa	p.G58E	MYH2_ENST00000532183.1_Missense_Mutation_p.G58E|MYH2_ENST00000397183.2_Missense_Mutation_p.G58E|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	58	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.G58E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGTCACTTTTCCTCCTTCTCT	0.463000													32	107					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33577937	33577937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:33577937G>A	ENST00000262873.7	+	19	2106	c.2014G>A	c.(2014-2016)Ggc>Agc	p.G672S		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	630	Actin-binding (By similarity).|Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAATTATGCGGGCTCCTGCTC	0.547000													21	86					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	89992999	89992999	+	Silent	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:89992999A>C	ENST00000428670.3	-	20	3702	c.3246T>G	c.(3244-3246)ccT>ccG	p.P1082P	ATP2B1_ENST00000393164.2_Silent_p.P825P|ATP2B1_ENST00000261173.2_Silent_p.P1082P|ATP2B1_ENST00000348959.3_Silent_p.P1046P|ATP2B1_ENST00000359142.3_Silent_p.P1082P			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	1082					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						ATTCCTCCTCAGGTATTTCTT	0.423000													40	4					0	0	1	0	0
MAN2A2	4122	broad.mit.edu	37	15	91456115	91456115	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:91456115C>T	ENST00000360468.3	+	16	2496	c.2478C>T	c.(2476-2478)gtC>gtT	p.V826V	MAN2A2_ENST00000559717.1_Silent_p.V826V|MAN2A2_ENST00000431652.2_Silent_p.V334V|MAN2A2_ENST00000430376.2_Silent_p.V16V	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	826					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			AGCCCTACGTCCCCAAGGAGC	0.567000													171	281					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71835457	71835457	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:71835457C>T	ENST00000373255.4	+	2	307	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C		NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	15	Histone H2A.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	p.R15S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CAAGCTGTCCCGTTCAGCTAG	0.552000													54	28					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75036823	75036823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:75036823G>A	ENST00000326665.5	-	14	4789	c.4571C>T	c.(4570-4572)tCc>tTc	p.S1524F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1524										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTTGTTGGGGGAAACATCTGC	0.512000													92	70					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951880	73951880	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:73951880C>T	ENST00000423730.3	-	3	628	c.193G>A	c.(193-195)Ggc>Agc	p.G65S	KHDC1_ENST00000370384.3_Missense_Mutation_p.G138S|KHDC1_ENST00000257765.5_Missense_Mutation_p.G65S																							CGAGTCTGGCCTGTAGCTGTG	0.547000													7	20					0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55497788	55497788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:55497788G>A	ENST00000396307.2	-	6	834	c.583C>T	c.(583-585)Cct>Tct	p.P195S	RAB27A_ENST00000569493.1_Missense_Mutation_p.P195S|RAB27A_ENST00000564609.1_Missense_Mutation_p.P195S|RAB27A_ENST00000336787.1_Missense_Mutation_p.P195S	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	195					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACTCCTTCAGGAATCCAGGAC	0.473000													22	145					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113694737	113694737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:113694737C>T	ENST00000297405.5	-	16	2855	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	CSMD3_ENST00000343508.3_Missense_Mutation_p.E831K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E767K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E871K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	871	Sushi 4.					integral to membrane|plasma membrane		p.E831K(1)|p.E871K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAATTGTTTCTGTTCCCTGG	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	65					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160757961	160757961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:160757961G>A	ENST00000274547.2	-	9	1223	c.1006C>T	c.(1006-1008)Caa>Taa	p.Q336*	GABRB2_ENST00000517547.1_Nonsense_Mutation_p.Q176*|GABRB2_ENST00000517901.1_Nonsense_Mutation_p.Q273*|GABRB2_ENST00000393959.1_Nonsense_Mutation_p.Q336*|GABRB2_ENST00000520240.1_Nonsense_Mutation_p.Q336*|GABRB2_ENST00000353437.6_Nonsense_Mutation_p.Q336*	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	336				Q -> L (in Ref. 4; BAF82419).	gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTGGCGTTGGGGCCCCCTC	0.512000													24	81					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144098195	144098195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:144098195C>T	ENST00000467773.1	-	4	787	c.788G>A	c.(787-789)gGg>gAg	p.G263E	NOBOX_ENST00000483238.1_Missense_Mutation_p.G263E|NOBOX_ENST00000223140.5_Missense_Mutation_p.G178E	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	263					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					TTCCGGGGGCCCCTGCTTGTG	0.572000													11	24					0	0	1	0	0
SLC35F1	222553	broad.mit.edu	37	6	118588247	118588247	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:118588247C>T	ENST00000360388.4	+	4	768	c.567C>T	c.(565-567)atC>atT	p.I189I		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	189					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TCATCGGCATCGTTGTCTGCA	0.532000													75	84					0	0	1	0	0
LOC101927209	101927209	broad.mit.edu	37	1	142713770	142713770	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:142713770C>T	ENST00000369381.2	-	0	835																											TTTTCTTTTTCCACATTGTCA	0.289000													4	48					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178491468	178491468	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:178491468C>T	ENST00000319416.2	+	9	707	c.595C>T	c.(595-597)Cct>Tct	p.P199S	TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Intron|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000258298.2_Intron	NM_032126.4	NP_115502.2			testis expressed 35																		agggaacattccttcagaggc	0.582000													7	20					0	0	1	0	0
NECAB2	54550	broad.mit.edu	37	16	84028020	84028020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:84028020C>T	ENST00000565691.1	+	5	1183	c.461C>T	c.(460-462)cCa>cTa	p.P154L	NECAB2_ENST00000305202.4_Missense_Mutation_p.P237L|NECAB2_ENST00000567703.1_3'UTR			Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	237					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						AAGACCCTTCCATCTGGTGAG	0.617000													8	13					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729541	196729541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196729541C>T	ENST00000312428.6	-	41	6938	c.6838G>A	c.(6838-6840)Gat>Aat	p.D2280N		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2280					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGTTGGTATCCTCCCTCTTG	0.383000													25	73					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24690159	24690159	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:24690159G>A	ENST00000396475.2	+	6	778	c.479G>A	c.(478-480)gGg>gAg	p.G160E	MPP6_ENST00000222644.4_Missense_Mutation_p.G160E|MPP6_ENST00000409761.1_Missense_Mutation_p.G48E	NM_016447.2	NP_057531.2	Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	160	PDZ.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						ATCCTCCATGGGGGAATGATA	0.353000													29	62					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138546119	138546119	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138546119G>A	ENST00000440172.1	-	16	5061	c.5013C>T	c.(5011-5013)tcC>tcT	p.S1671S	KIAA1549_ENST00000422774.1_Silent_p.S1671S|KIAA1549_ENST00000242365.4_Silent_p.S1621S	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1671						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGATGTACTGGGAGGCCGGGA	0.642000			O	BRAF	pilocytic astrocytoma								14	24					0	0	1	0	0
SEZ6L2	26470	broad.mit.edu	37	16	29899001	29899001	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:29899001C>T	ENST00000308713.5	-	7	1704	c.1177G>A	c.(1177-1179)Gaa>Aaa	p.E393K	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.E349K|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.E279K|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.E323K	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	393	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGACCCTTTCAAAGTGCAGG	0.632000													24	63					0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483286	20483286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20483286G>A	ENST00000305045.2	-	1	66	c.67C>T	c.(67-69)Ctt>Ttt	p.L23F		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	23					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)		AAATTTTGAAGATGTCGTGAA	0.398000													12	22					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2076235	2076235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:2076235G>A	ENST00000382203.1	+	13	2151	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K	SMARCA2_ENST00000357248.2_Missense_Mutation_p.E648K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E648K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E648K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	648	Poly-Glu.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCAGGATGAGGAAGAAGAGTC	0.368000													13	20					0	0	1	0	0
SCGB1D4	404552	broad.mit.edu	37	11	62065014	62065014	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62065014C>T	ENST00000358585.1	-	2	225	c.172G>A	c.(172-174)Gcc>Acc	p.A58T		NM_206998.1	NP_996881.1	Q6XE38	SG1D4_HUMAN	secretoglobin, family 1D, member 4	58						extracellular region	binding			lung(1)|prostate(1)	2						TCCAACTTGGCTGCAAGAGCT	0.443000													51	188					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117768566	117768566	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117768566G>A	ENST00000317775.6	-	2	994	c.309C>T	c.(307-309)ttC>ttT	p.F103F	NOS1_ENST00000338101.4_Silent_p.F103F|NOS1_ENST00000344089.3_Silent_p.F103F	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	103	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGTGCGTGGTGAAACCTTCAG	0.622000													14	42					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197081	26197081	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26197081C>T	ENST00000377831.5	-	2	851	c.398G>A	c.(397-399)gGg>gAg	p.G133E	HIST1H3D_ENST00000356476.2_Missense_Mutation_p.G133E	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	133					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				CGCCCTCTCCCCACGAATGCG	0.498000													15	54					0	0	1	0	0
SFTPD	6441	broad.mit.edu	37	10	81702205	81702205	+	Silent	SNP	C	C	T	rs139257328		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:81702205C>T	ENST00000372292.3	-	4	412	c.372G>A	c.(370-372)ggG>ggA	p.G124G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	124	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			TCCCCTGCTTCCCCAGGGGAC	0.597000													18	33					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140772572	140772572	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140772572C>T	ENST00000371372.1	+	1	332	c.187C>T	c.(187-189)Ccg>Tcg	p.P63S	CACNA1B_ENST00000277551.2_Missense_Mutation_p.P63S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.P63S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.P63S|CACNA1B_ENST00000277549.5_5'UTR|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371357.1_Missense_Mutation_p.P63S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	63					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAACCCCATCCCGGTCAAGCA	0.662000													7	20					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3197799	3197799	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:3197799G>A	ENST00000398659.4	-	8	1013	c.873C>T	c.(871-873)ccC>ccT	p.P291P	TSSC1_ENST00000478754.1_5'UTR|TSSC1_ENST00000382125.4_Silent_p.P264P			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	264							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GGGTCTTCACGGGTTCGGTGA	0.527000													15	94					0	0	1	0	0
KIT	3815	broad.mit.edu	37	4	55593603	55593603	+	Missense_Mutation	SNP	T	T	C	rs121913234		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:55593603T>C	ENST00000288135.5	+	11	1766	c.1669T>C	c.(1669-1671)Tgg>Cgg	p.W557R		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	557			Missing (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.W557_K558del(120)|p.W557R(28)|p.W557G(23)|p.W557_E561del(17)|p.Y553_K558>(8)|p.E554_K558del(8)|p.M552_W557del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.Y553_K558del(4)|p.W557del(4)|p.V555_K558del(3)|p.Y553_T574>S(3)|p.Y553_W557del(3)|p.V555_I571del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K550_V559del(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.V555_G565del(1)|p.M552_W557>R(1)|p.Q556_W557del(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.Q556_N566>SNNLQLY(1)|p.M552_T574>TESA(1)|p.Q556_D572>PS(1)|p.Q556_D572del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.Q556_W557>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.K550_W557del(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGAAGTACAGTGGAAGGTTGT	0.388000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				77	27					0	0	1	0	0
SYCP1	6847	broad.mit.edu	37	1	115428861	115428861	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:115428861C>T	ENST00000369522.3	+	14	1361	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	SYCP1_ENST00000369518.1_Missense_Mutation_p.S374L	NM_003176.2	NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	374					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCTCATTCGTTTGTGGTT	0.308000													17	28					0	0	1	0	0
TLX3	30012	broad.mit.edu	37	5	170736468	170736468	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:170736468C>T	ENST00000296921.5	+	1	181	c.99C>T	c.(97-99)ccC>ccT	p.P33P		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ACAGCGCACCCGCCCCGCGGG	0.756000			T	BCL11B	T-ALL								12	6					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127768717	127768717	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:127768717C>T	ENST00000483725.3	-	5	1083	c.747G>A	c.(745-747)acG>acA	p.T249T	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	249							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CACATTTTTTCGTAGAATTGC	0.388000													24	16					0	0	1	0	0
NLN	57486	broad.mit.edu	37	5	65081739	65081739	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:65081739T>C	ENST00000380985.5	+	7	1136		c.e7+2		NLN_ENST00000502464.1_Splice_Site	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)						proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CCTTTCTAGGTTAGTTCTTTT	0.423000													10	17					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68055862	68055862	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:68055862C>T	ENST00000478136.1	+	2	583	c.93C>T	c.(91-93)ttC>ttT	p.F31F	FAM19A1_ENST00000496687.1_Silent_p.F31F	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	31						endoplasmic reticulum|extracellular region		p.F31F(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AGCACACTTTCCAGCAGCATC	0.498000													25	91					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18691166	18691166	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18691166C>T	ENST00000433979.1	+	24	3393	c.3277C>T	c.(3277-3279)Caa>Taa	p.Q1093*	PIK3C2G_ENST00000266497.5_Nonsense_Mutation_p.Q1093*|PIK3C2G_ENST00000538779.1_Nonsense_Mutation_p.Q1134*	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1093	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ACAGCATTTTCAAGATTTTGT	0.398000													18	60					0	0	1	0	0
NPR2	4882	broad.mit.edu	37	9	35800143	35800143	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:35800143G>A	ENST00000342694.2	+	4	1367	c.1112G>A	c.(1111-1113)cGa>cAa	p.R371Q		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	371					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATGCAGGGACGAAGATATCAC	0.493000													38	46					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91755460	91755460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:91755460G>A	ENST00000389857.6	-	25	4516	c.4430C>T	c.(4429-4431)tCt>tTt	p.S1477F		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1477					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTTCCCCACAGACCCGTTGTG	0.687000													5	25					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2834605	2834605	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2834605C>T	ENST00000317243.5	+	5	1570	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGAGCGAACTCACACGGGCGA	0.547000													15	22					0	0	1	0	0
AMIGO2	347902	broad.mit.edu	37	12	47472445	47472445	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:47472445G>A	ENST00000266581.4	-	2	807	c.341C>T	c.(340-342)tCc>tTc	p.S114F	AMIGO2_ENST00000429635.1_Missense_Mutation_p.S114F|AMIGO2_ENST00000321382.3_Missense_Mutation_p.S114F|AMIGO2_ENST00000550413.1_Missense_Mutation_p.S114F	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	114					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGGAGTTGTGGAAAAACTGCC	0.433000													23	69					0	0	1	0	0
MGAT2	4247	broad.mit.edu	37	14	50089303	50089303	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:50089303C>T	ENST00000305386.2	+	1	1815	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	439					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					ACCATGAACTCTGTAAAAGTT	0.368000													10	50					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68191088	68191088	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68191088G>A	ENST00000294304.7	+	14	3265	c.3159G>A	c.(3157-3159)ctG>ctA	p.L1053L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1053	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCACAGGCTGAGCGGGGAAG	0.647000													32	95					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652080	88652080	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:88652080G>A	ENST00000340700.5	-	7	1867	c.1416C>T	c.(1414-1416)atC>atT	p.I472I	KCNK10_ENST00000312350.5_Silent_p.I477I|KCNK10_ENST00000319231.5_Silent_p.I477I	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	472					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGGTCTTGTAGATTTTCTGAA	0.502000													55	63					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43679421	43679421	+	Missense_Mutation	SNP	G	G	A	rs150587441	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43679421G>A	ENST00000404580.1	-	4	998	c.910C>T	c.(910-912)Cgt>Tgt	p.R304C	PSG5_ENST00000366175.3_Missense_Mutation_p.R304C|PSG5_ENST00000342951.6_Missense_Mutation_p.R304C|PSG5_ENST00000407356.1_Missense_Mutation_p.R304C|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000599812.1_Missense_Mutation_p.R397C			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	304	Ig-like C2-type 2.				female pregnancy	extracellular region		p.R304C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GCTGAGTTACGAACAGAGCAA	0.443000													44	198					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43714177	43714177	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43714177G>A	ENST00000263801.3	-	19	4213	c.3961C>T	c.(3961-3963)Ctc>Ttc	p.L1321F	TP53BP1_ENST00000450115.2_Missense_Mutation_p.L1326F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.L1326F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.L1326F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1321					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATAGCTGAGAGACTTGTCCCA	0.572000								Other conserved DNA damage response genes					15	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179636172	179636172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179636172C>T	ENST00000589042.1	-	34	8106	c.7882G>A	c.(7882-7884)Gat>Aat	p.D2628N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D2628N|TTN_ENST00000460472.2_Missense_Mutation_p.D2582N|TTN_ENST00000359218.5_Missense_Mutation_p.D2582N|TTN_ENST00000342175.6_Missense_Mutation_p.D2582N|TTN_ENST00000360870.5_Missense_Mutation_p.D2628N|TTN_ENST00000591111.1_Missense_Mutation_p.D2628N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2364	Ig-like 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACGGTCTGATCTGTGAGTGGC	0.453000													10	38					0	0	1	0	0
ABTB1	80325	broad.mit.edu	37	3	127396527	127396527	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:127396527C>T	ENST00000468137.1	+	9	1060	c.444C>T	c.(442-444)ttC>ttT	p.F148F	ABTB1_ENST00000453791.2_Silent_p.F148F|ABTB1_ENST00000232744.8_Silent_p.F290F|ABTB1_ENST00000393363.3_Silent_p.F148F			Q969K4	ABTB1_HUMAN	ankyrin repeat and BTB (POZ) domain containing 1	290	BTB 1.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						AGGCCTTTTTCTGTGGCCGCA	0.682000													3	6					0	0	1	0	0
LPAR4	2846	broad.mit.edu	37	X	78011029	78011029	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:78011029C>T	ENST00000435339.2	+	2	1068	c.663C>T	c.(661-663)gtC>gtT	p.V221V	LPAR4_ENST00000373301.2_Silent_p.V221V	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	221						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TATTGAATGTCTCTTGCTCTT	0.378000													24	1					0	0	1	0	0
FNIP2	57600	broad.mit.edu	37	4	159812771	159812771	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:159812771C>T	ENST00000264433.6	+	15	3198	c.3123C>T	c.(3121-3123)ctC>ctT	p.L1041L	FNIP2_ENST00000379346.3_Silent_p.L1064L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	1041					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTTTACAGCTCTATAAGCTTC	0.383000													12	19					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42000019	42000019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42000019C>T	ENST00000219905.7	+	6	2463	c.2282C>T	c.(2281-2283)cCt>cTt	p.P761L	MGA_ENST00000570161.1_Missense_Mutation_p.P761L|MGA_ENST00000389936.4_Missense_Mutation_p.P761L|MGA_ENST00000566586.1_Missense_Mutation_p.P761L|MGA_ENST00000545763.1_Missense_Mutation_p.P761L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	761						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACTAGCTTTCCTTTTTGGAAC	0.378000													19	24					0	0	1	0	0
FAM83D	81610	broad.mit.edu	37	20	37570699	37570699	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:37570699T>C	ENST00000217429.4	+	2	712	c.671T>C	c.(670-672)cTg>cCg	p.L224P		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	194					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TATATCCTTCTGGACCAGGCT	0.448000													31	45					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196698	132196698	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:132196698G>A	ENST00000260818.6	+	23	2759	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	837							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TACTATTGGAGGAAGATGAGA	0.343000													44	88					0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75116727	75116727	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75116727G>A	ENST00000309664.5	+	13	1498	c.1359G>A	c.(1357-1359)caG>caA	p.Q453Q	LMAN1L_ENST00000379709.3_Silent_p.Q441Q|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	453						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CACCTGGCCAGCCCCCAAGGG	0.597000													72	87					0	0	1	0	0
OR14A16	284532	broad.mit.edu	37	1	247978233	247978233	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247978233A>G	ENST00000357627.1	-	1	798	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						ACAGCATCCAAAATAGAAGGA	0.418000													9	30					0	0	1	0	0
OR4A47	403253	broad.mit.edu	37	11	48511117	48511117	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48511117G>A	ENST00000446524.1	+	1	849	c.773G>A	c.(772-774)aGa>aAa	p.R258K		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ATGTATGCTAGACCTGCTAGG	0.428000													45	113					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186953596	186953596	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:186953596C>T	ENST00000296280.6	-	11	2288	c.2063G>A	c.(2062-2064)gGa>gAa	p.G688E	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Missense_Mutation_p.G575E	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	669	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTCTTCAGGTCCCCCCCAGGA	0.567000													15	42					0	0	1	0	0
TRAV10	28676	broad.mit.edu	37	14	22294010	22294010	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22294010G>A	ENST00000390432.2	+	0	150																											TGGAGGGAAAGAACTGCACTC	0.453000													33	33					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57287427	57287427	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:57287427G>A	ENST00000543872.2	+	2	279	c.15G>A	c.(13-15)gtG>gtA	p.V5V	SMG8_ENST00000578922.1_Silent_p.V5V|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000300917.5_Silent_p.V5V|SMG8_ENST00000580498.1_3'UTR			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	5					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTGGTCCCGTGAGCTTGCGAG	0.592000													15	20					0	0	1	0	0
PRND	23627	broad.mit.edu	37	20	4705644	4705644	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:4705644G>A	ENST00000305817.2	+	2	518	c.447G>A	c.(445-447)ttG>ttA	p.L149L		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	149	Globular.		L -> S.		protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						AGTTTTGGTTGGAGAGGGGCG	0.597000													23	22					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140222123	140222123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140222123C>T	ENST00000531613.1	+	1	1217	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.S406L|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTACTACTCGTTGGTGCTG	0.632000													14	66					0	0	1	0	0
DYNLRB2	83657	broad.mit.edu	37	16	80583473	80583473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:80583473C>T	ENST00000305904.6	+	3	292	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	RP11-525K10.3_ENST00000568776.1_RNA|DYNLRB2_ENST00000562982.1_Missense_Mutation_p.R87C|DYNLRB2_ENST00000568035.1_Intron|DYNLRB2_ENST00000570222.1_3'UTR|RP11-109P11.1_ENST00000568275.1_RNA	NM_130897.1	NP_570967.1	Q8TF09	DLRB2_HUMAN	dynein, light chain, roadblock-type 2	58					microtubule-based movement|transport	cytoplasmic dynein complex|microtubule	microtubule motor activity			large_intestine(1)|lung(4)|prostate(1)	6						AAGCACAGTTCGTGATATTGA	0.403000													7	10					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62293945	62293945	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62293945C>T	ENST00000318100.4	+	5	1269	c.442C>T	c.(442-444)Cct>Tct	p.P148S	RTEL1_ENST00000370018.3_Missense_Mutation_p.P148S|RTEL1_ENST00000360203.5_Missense_Mutation_p.P148S|RTEL1_ENST00000508582.2_Missense_Mutation_p.P172S|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P148S			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	148	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTGCATCCATCCTGAGGTGAA	0.622000													51	39					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31769133	31769133	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31769133G>A	ENST00000240587.4	-	2	1893	c.1566C>T	c.(1564-1566)atC>atT	p.I522I		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	522					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGGATTTGAGGATATCAAGCC	0.507000													43	104					0	0	1	0	0
HS6ST3	266722	broad.mit.edu	37	13	97484827	97484827	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:97484827G>A	ENST00000376705.2	+	2	815	c.791G>A	c.(790-792)tGg>tAg	p.W264*		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	264						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					GGGGCCACTTGGAAAACCTCT	0.512000													11	28					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1643106	1643106	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1643106C>T	ENST00000252804.4	-	20	4091	c.4041G>A	c.(4039-4041)ccG>ccA	p.P1347P		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1347					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TTTTCTTGGTCGGCTTGTCCT	0.542000													8	30					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372884	126372884	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126372884G>A	ENST00000394329.3	+	9	10726	c.10713G>A	c.(10711-10713)gaG>gaA	p.E3571E	FAT4_ENST00000335110.5_Silent_p.E1869E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3571	Cadherin 34.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAACCAGAGAGATTGACAGAG	0.458000													31	140					0	0	1	0	0
TMEM187	8269	broad.mit.edu	37	X	153248286	153248286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153248286G>A	ENST00000369982.4	+	2	1520	c.773G>A	c.(772-774)gGg>gAg	p.G258E		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	258						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCTCTGGCGGGAAGACGCGT	0.537000													13	29					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399582	40399582	+	Missense_Mutation	SNP	C	C	T	rs140611678		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:40399582C>T	ENST00000338305.6	-	2	1813	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	424	Fibronectin type-III.					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)					AAGCACAGCCCGTTCCGGGGG	0.637000													9	77					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510595	5510595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5510595C>T	ENST00000322641.5	+	1	681	c.659C>T	c.(658-660)tCc>tTc	p.S220F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCCATTTCCTATGGCTTT	0.498000													100	93					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2830723	2830723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2830723C>T	ENST00000520002.1	-	58	9397	c.8842G>A	c.(8842-8844)Gaa>Aaa	p.E2948K	CSMD1_ENST00000400186.3_Missense_Mutation_p.E2890K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2948K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2947K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2889K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2890K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2948	Sushi 22.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGCCCCATTTCACAGGAGAAG	0.557000													60	123					0	0	1	0	0
KRT17	3872	broad.mit.edu	37	17	39780518	39780518	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39780518C>T	ENST00000311208.8	-	1	311	c.244G>A	c.(244-246)Gga>Aga	p.G82R	JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	82	Head.				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				TTCTCACCTCCAGCCAGCAGC	0.622000													80	64					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62293946	62293946	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62293946C>T	ENST00000318100.4	+	5	1270	c.443C>T	c.(442-444)cCt>cTt	p.P148L	RTEL1_ENST00000370018.3_Missense_Mutation_p.P148L|RTEL1_ENST00000360203.5_Missense_Mutation_p.P148L|RTEL1_ENST00000508582.2_Missense_Mutation_p.P172L|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.P148L			Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	148	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TGCATCCATCCTGAGGTGAAG	0.622000													51	40					0	0	1	0	0
ZNF709	163051	broad.mit.edu	37	19	12575060	12575060	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:12575060G>A	ENST00000397732.3	-	4	1847	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	ZNF709_ENST00000428311.1_Missense_Mutation_p.P559L|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	559					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACACTCATAAGGTTTCTCTCC	0.418000													36	54					0	0	1	0	0
CPNE4	131034	broad.mit.edu	37	3	131404723	131404723	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:131404723G>A	ENST00000512055.1	-	10	2713	c.587C>T	c.(586-588)aCt>aTt	p.T196I	CPNE4_ENST00000502818.1_Missense_Mutation_p.T214I|CPNE4_ENST00000511604.1_Missense_Mutation_p.T196I|CPNE4_ENST00000512332.1_Missense_Mutation_p.T214I|CPNE4_ENST00000429747.1_Missense_Mutation_p.T196I			Q96A23	CPNE4_HUMAN	copine IV	196	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TCTTACCTCAGTTCGGTGCAC	0.378000													5	18					0	0	1	0	0
CAND2	23066	broad.mit.edu	37	3	12856863	12856863	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:12856863G>A	ENST00000456430.2	+	8	1271	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P	CAND2_ENST00000295989.5_Silent_p.P317P	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	410					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CACAGCCCCCGAAGGGATGGC	0.617000													18	48					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141598489	141598489	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141598489C>T	ENST00000389484.3	-	30	6083	c.5112G>A	c.(5110-5112)agG>agA	p.R1704R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1704					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACTTTACCCCCTGACTGGGT	0.338000										TSP Lung(27;0.18)			4	29					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79410076	79410076	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:79410076G>A	ENST00000264895.6	+	59	9240	c.8800G>A	c.(8800-8802)Gag>Aag	p.E2934K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2929	Calx-beta 4.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GAAGGAGAAGGAGGGTGTCCT	0.537000													11	32					0	0	1	0	0
CCL7	6354	broad.mit.edu	37	17	32597386	32597386	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:32597386G>A	ENST00000378569.2	+	1	146		c.e1+1		CCL7_ENST00000394627.1_Splice_Site|CCL7_ENST00000394630.3_Splice_Site|CCL7_ENST00000200307.4_Splice_Site	NM_006273.2	NP_006264.2	P80098	CCL7_HUMAN	chemokine (C-C motif) ligand 7						cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GCTCAGCCAGGTAAGGTCCCT	0.552000													18	21					0	0	1	0	0
ZNF592	9640	broad.mit.edu	37	15	85341193	85341193	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:85341193C>T	ENST00000299927.3	+	3	2515	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	ZNF592_ENST00000560079.2_Silent_p.F831F			Q92610	ZN592_HUMAN	zinc finger protein 592	831					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AATGTGCATTCTGCCCCATGG	0.597000													5	46					0	0	1	0	0
SPZ1	84654	broad.mit.edu	37	5	79616572	79616572	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:79616572G>A	ENST00000296739.4	+	1	783	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TGTTAGTTTAGCCCCAGAGAA	0.383000													15	10					0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038503	131038503	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:131038503G>A	ENST00000320188.4	+	1	79	c.79G>A	c.(79-81)Gag>Aag	p.E27K		NM_001040011.1	NP_001035100.1	Q1ZZU3	SWI5_HUMAN	SWI5 recombination repair homolog (yeast)	27					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										CCCACCTCGGGAGAGGGGCGG	0.682000													12	17					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8808551	8808551	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8808551G>A	ENST00000324436.3	-	1	621	c.501C>T	c.(499-501)ttC>ttT	p.F167F		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	167						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCAGCGACTCGAAGGCCACCT	0.672000													35	22					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340395	55340395	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55340395C>T	ENST00000314634.3	+	1	792	c.792C>T	c.(790-792)ccC>ccT	p.P264P		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCGTATTCCCCATGGATAAGA	0.398000													22	32					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96707561	96707561	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96707561C>T	ENST00000260682.6	+	4	519	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	169					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CCACTTTCATCCTGGGCTGTG	0.313000													38	44					0	0	1	0	0
UPK3B	80761	broad.mit.edu	37	7	76142439	76142439	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:76142439G>A	ENST00000443097.2	+	4	725	c.500G>A	c.(499-501)aGg>aAg	p.R167K	UPK3B_ENST00000394849.1_Intron|UPK3B_ENST00000448265.3_Intron|UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000334348.3_Missense_Mutation_p.R167K|UPK3B_ENST00000257632.5_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B	0					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGCTCACCCAGGGCTGAGACC	0.662000													23	20					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770617	31770617	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31770617C>T	ENST00000240587.4	-	2	409	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	28					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTAAACCTTCGTCCACCAGG	0.562000													24	52					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1893202	1893202	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1893202C>T	ENST00000399161.2	-	16	3078	c.2331G>A	c.(2329-2331)atG>atA	p.M777I	MYT1L_ENST00000428368.2_Missense_Mutation_p.M775I	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	777					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TCTGCTTGTTCATGCTGAGGT	0.597000													15	115					0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729866	18729866	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:18729866C>T	ENST00000440756.2	-	3	610	c.508G>A	c.(508-510)Gaa>Aaa	p.E170K	PSD3_ENST00000327040.8_Missense_Mutation_p.E170K|PSD3_ENST00000523619.1_Missense_Mutation_p.E105K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	170					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGCTCTTTTTCCACCTGCTGA	0.443000													49	38					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32972405	32972405	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:32972405C>T	ENST00000544455.1	+	27	9982	c.9755C>T	c.(9754-9756)tCt>tTt	p.S3252F	BRCA2_ENST00000380152.3_Missense_Mutation_p.S3252F	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3252					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTTCAAAGTCTTGTAAAGGG	0.413000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			32	67					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488514	108488514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:108488514G>A	ENST00000408999.3	+	20	4131	c.4054G>A	c.(4054-4056)Gaa>Aaa	p.E1352K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1352K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1352	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTGGTGAGGAAAATGAAAA	0.368000													59	176					0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774290	14774290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:14774290C>T	ENST00000295092.2	+	2	475	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	FAM84A_ENST00000331243.4_Missense_Mutation_p.P63S	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	63										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGGTTGCACCCCCTGCCCGGA	0.647000													6	28					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149467602	149467602	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149467602G>A	ENST00000302017.3	-	3	491	c.78C>T	c.(76-78)ccC>ccT	p.P26P	ZNF467_ENST00000484747.1_Silent_p.P26P	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATCCTTCCCTGGGCTCACTTT	0.532000													53	38					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408381	215408381	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215408381G>A	ENST00000444842.2	+	7	1324	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	KCNK2_ENST00000391894.2_Missense_Mutation_p.E377K|KCNK2_ENST00000391895.2_Missense_Mutation_p.E388K	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	392	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CCTGACCAGCGAGAGGGATGT	0.517000													9	93					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654906	99654906	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:99654906T>G	ENST00000292450.4	+	2	441	c.277T>G	c.(277-279)Ttc>Gtc	p.F93V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.F93V|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.F93V|ZSCAN21_ENST00000477297.1_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	93	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTGGAGCAGTTCCTGACCAT	0.637000													9	37					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215408272	215408272	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215408272C>T	ENST00000444842.2	+	7	1215	c.1065C>T	c.(1063-1065)ttC>ttT	p.F355F	KCNK2_ENST00000391894.2_Silent_p.F340F|KCNK2_ENST00000391895.2_Silent_p.F351F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	355	Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	ATGACAAGTTCCAGCGGGCCA	0.552000													99	46					0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143531	91143531	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:91143531G>A	ENST00000371809.3	+	2	541	c.461G>A	c.(460-462)gGa>gAa	p.G154E	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	154							binding			endometrium(2)|large_intestine(3)|lung(8)	13						AAGTGTGGTGGAAAGAATTAT	0.498000													18	61					0	0	1	0	0
CAPN3	825	broad.mit.edu	37	15	42703483	42703483	+	Splice_Site	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42703483A>G	ENST00000397163.3	+	23	2599		c.e23-1		CAPN3_ENST00000357568.3_Splice_Site|CAPN3_ENST00000397204.4_Splice_Site|CAPN3_ENST00000356316.3_Splice_Site|CAPN3_ENST00000337571.4_Splice_Site|CAPN3_ENST00000318023.7_Splice_Site|CAPN3_ENST00000561817.1_Splice_Site|CAPN3_ENST00000349748.3_Splice_Site|CAPN3_ENST00000569136.1_Splice_Site|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000397200.4_Splice_Site	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)						muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATTCTTTCACAGGAGCTTTTC	0.502000													17	87					0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183963139	183963139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183963139G>A	ENST00000455059.1	-	4	786	c.332C>T	c.(331-333)cCc>cTc	p.P111L	EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000418734.2_Missense_Mutation_p.P95L|ALG3_ENST00000397676.3_Missense_Mutation_p.P151L|ALG3_ENST00000445626.2_Missense_Mutation_p.P103L			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	151					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGACGAAGGGAGGTACCTA	0.572000													3	11					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103138606	103138606	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103138606G>A	ENST00000428762.1	-	54	8920	c.8761C>T	c.(8761-8763)Ctt>Ttt	p.L2921F	RELN_ENST00000343529.5_Missense_Mutation_p.L2921F|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.L2921F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2921					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCTCGGCAAGAATTCCACAC	0.433000													14	74					0	0	1	0	0
KIF5A	3798	broad.mit.edu	37	12	57972039	57972039	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57972039G>A	ENST00000455537.2	+	23	2726	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	KIF5A_ENST00000286452.5_Missense_Mutation_p.E729K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	818					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AATGGAGCCCGAAGACAGTGG	0.512000													32	113					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10876690	10876690	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:10876690C>T	ENST00000379491.4	-	3	591	c.444G>A	c.(442-444)gcG>gcA	p.A148A	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	148					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAAAAAGATCGCGTTGCCAT	0.498000													9	71					0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71286745	71286745	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:71286745C>T	ENST00000283228.2	-	2	523	c.71G>A	c.(70-72)gGa>gAa	p.G24E		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	24					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCATTGTTTCCTGAAAAGCA	0.383000													29	42					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8221201	8221201	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:8221201G>A	ENST00000539824.1	+	9	1202	c.828G>A	c.(826-828)tcG>tcA	p.S276S	SH3TC1_ENST00000245105.3_Silent_p.S352S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	352							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						ACGCAGCCTCGGGCCGGGTGG	0.697000													15	2					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39452312	39452312	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:39452312C>G	ENST00000301821.6	+	4	429	c.320C>G	c.(319-321)aCc>aGc	p.T107S	RPSA_ENST00000443003.1_Missense_Mutation_p.T112S|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	107	Interaction with PPP1R16B.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		ACTCCTGGAACCTTCACTAAC	0.537000													12	32					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636148	83636148	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:83636148G>A	ENST00000566620.1	+	8	1340	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	CDH13_ENST00000268613.10_Silent_p.T397T|CDH13_ENST00000428848.3_Silent_p.T311T	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	350	Cadherin 2.				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|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACAGCCACGATCATGATCG	0.463000													46	65					0	0	1	0	0
SCAMP5	192683	broad.mit.edu	37	15	75305141	75305141	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:75305141G>A	ENST00000361900.6	+	4	338	c.131G>A	c.(130-132)tGg>tAg	p.W44*	SCAMP5_ENST00000545456.1_Silent_p.L25L|SCAMP5_ENST00000562212.1_Nonsense_Mutation_p.W44*|SCAMP5_ENST00000565923.1_3'UTR|SCAMP5_ENST00000425597.3_Nonsense_Mutation_p.W44*	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	44					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						TACTACCTCTGGATGTGTGAG	0.607000													22	25					0	0	1	0	0
KRT10	3858	broad.mit.edu	37	17	38975075	38975075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38975075G>A	ENST00000269576.5	-	7	1721	c.1712C>T	c.(1711-1713)tCc>tTc	p.S571F		NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	571	Gly-rich.|Ser-rich.|Tail.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CACGGACCCGGAAGAGGAGGA	0.632000													7	34					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179018724	179018724	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:179018724G>A	ENST00000319449.4	+	10	1239	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	RUFY1_ENST00000437570.2_Silent_p.E301E|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000393438.2_Silent_p.E301E	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	409					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTAAAAGAGGAGAAGAAAG	0.428000										HNSCC(44;0.11)			18	48					0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92140529	92140529	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:92140529G>A	ENST00000256343.3	-	12	1125	c.969C>T	c.(967-969)acC>acT	p.T323T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	323					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCTCACTTAGGGTTCTGTTTC	0.323000													14	45					0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96541593	96541593	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:96541593C>T	ENST00000371321.3	+	5	740	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	220					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CAATAATTTTCCCACTATCAT	0.274000													5	24					0	0	1	0	0
TMEM211	255349	broad.mit.edu	37	22	25331387	25331387	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:25331387C>T	ENST00000407886.1	-	4	555	c.303G>A	c.(301-303)tgG>tgA	p.W101*	TMEM211_ENST00000382744.1_Nonsense_Mutation_p.W101*|TMEM211_ENST00000423535.1_Nonsense_Mutation_p.W172*			Q6ICI0	TM211_HUMAN	transmembrane protein 211	172						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGTGTGGGGCCAGCTGATGA	0.527000													29	44					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119003692	119003692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:119003692C>T	ENST00000298472.5	+	3	475	c.332C>T	c.(331-333)tCc>tTc	p.S111F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	111					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACCAACGCGTCCGCTGTTCCT	0.512000													30	39					0	0	1	0	0
MMP26	56547	broad.mit.edu	37	11	5009529	5009529	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5009529G>A	ENST00000380390.1	+	2	304	c.88G>A	c.(88-90)Gac>Aac	p.D30N	MMP26_ENST00000477339.1_3'UTR|MMP26_ENST00000300762.1_Missense_Mutation_p.D30N			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	30					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TAAAGGATGGGACTTTGTTGA	0.483000													22	99					0	0	1	0	0
ZNF300P1	134466	broad.mit.edu	37	5	150311076	150311076	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:150311076C>T	ENST00000520773.1	-	0	2245																											TGGTTTTTCCCCAGTGTGAAC	0.403000													9	4					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195518009	195518009	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:195518009G>T	ENST00000463781.3	-	2	901	c.442C>A	c.(442-444)Ctt>Att	p.L148I	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L148I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	153					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTTCCAAGAGTGGAGTCT	0.458000													37	66					6.97489e-18	7.05098e-18	1	1	0
SLC30A8	169026	broad.mit.edu	37	8	118184905	118184905	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:118184905A>G	ENST00000427715.2	+	11	1382	c.948A>G	c.(946-948)gaA>gaG	p.E316E	SLC30A8_ENST00000456015.2_Silent_p.E365E|SLC30A8_ENST00000519688.1_Silent_p.E316E|SLC30A8_ENST00000521243.1_Silent_p.E316E	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	365					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTTTCTGTGAAGACCCCTGTG	0.463000													58	209					0	0	1	0	0
FGD5	152273	broad.mit.edu	37	3	14862731	14862731	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:14862731C>T	ENST00000285046.5	+	1	2263	c.2153C>T	c.(2152-2154)tCc>tTc	p.S718F	FGD5_ENST00000543601.1_Missense_Mutation_p.S477F	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	718					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCTTCTGAATCCCCCTCCTCC	0.577000													11	52					0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26348357	26348357	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26348357G>A	ENST00000335473.7	+	38	6188	c.5938G>A	c.(5938-5940)Gag>Aag	p.E1980K	MYO18B_ENST00000407587.2_Missense_Mutation_p.E1981K|MYO18B_ENST00000536101.1_Missense_Mutation_p.E1980K	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1980	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAACAAGACAGAGTTCCAGAA	0.512000													7	11					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19726083	19726083	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:19726083G>A	ENST00000284885.3	-	9	1011	c.978C>T	c.(976-978)ggC>ggT	p.G326G		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	326	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGCATTAAAGCCAACATAAT	0.303000													37	50					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202033	140202033	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140202033G>A	ENST00000529859.1	+	1	673	c.673G>A	c.(673-675)Gtt>Att	p.V225I	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.V225I|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.V225I|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGGTACAGTTCAGTTGTT	0.383000													23	66					0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155170709	155170709	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155170709C>T	ENST00000368378.3	-	13	1547	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000428962.2_Silent_p.G359G|THBS3_ENST00000541990.1_Silent_p.G38G|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000457183.2_Silent_p.G389G	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	509					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGATCCCATCCCCATCAGCAT	0.542000													43	261					0	0	1	0	0
MCTP1	79772	broad.mit.edu	37	5	94289029	94289029	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:94289029C>T	ENST00000515393.1	-	3	874	c.875G>A	c.(874-876)gGa>gAa	p.G292E	MCTP1_ENST00000505208.1_Missense_Mutation_p.G71E|MCTP1_ENST00000312216.8_Missense_Mutation_p.G71E|MCTP1_ENST00000429576.2_Missense_Mutation_p.G71E	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	292	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.G292E(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		AACTTCTTTTCCTCCGATTTT	0.373000													5	9					0	0	1	0	0
FAM19A1	407738	broad.mit.edu	37	3	68466432	68466432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:68466432G>A	ENST00000478136.1	+	3	611	c.121G>A	c.(121-123)Gga>Aga	p.G41R	FAM19A1_ENST00000491017.1_3'UTR|FAM19A1_ENST00000496687.1_Missense_Mutation_p.G41R	NM_213609.3	NP_998774.2	Q7Z5A9	F19A1_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A1	41						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		CTTGCCAGAAGGAGGGACGTG	0.468000													31	11					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66205150	66205150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:66205150C>T	ENST00000503581.1	-	4	691	c.154G>A	c.(154-156)Gac>Aac	p.D52N	EYS_ENST00000393380.2_Missense_Mutation_p.D52N|EYS_ENST00000370618.3_Missense_Mutation_p.D52N|EYS_ENST00000342421.5_Missense_Mutation_p.D52N|EYS_ENST00000370616.2_Missense_Mutation_p.D52N|EYS_ENST00000370621.3_Missense_Mutation_p.D52N	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	52					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGTAGAAGTCCAAGCAGATG	0.398000													14	65					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38838294	38838294	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:38838294G>A	ENST00000359357.3	+	47	6549	c.6295G>A	c.(6295-6297)Gag>Aag	p.E2099K	DNAH8_ENST00000449981.2_Missense_Mutation_p.E2316K|DNAH8_ENST00000441566.1_Missense_Mutation_p.E2063K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTTCAGATAGAGGGTTTGAT	0.398000													9	27					0	0	1	0	0
ENPP7	339221	broad.mit.edu	37	17	77705082	77705082	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:77705082G>A	ENST00000328313.5	+	1	402	c.181G>A	c.(181-183)Ggg>Agg	p.G61R		NM_178543.3	NP_848638.2	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	61					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCCCGAGACGGGGTGAAGGC	0.647000													10	37					0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999231	72999231	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:72999231C>T	ENST00000322038.5	+	2	2318	c.1734C>T	c.(1732-1734)tcC>tcT	p.S578S	TSHZ1_ENST00000580243.1_Silent_p.S623S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	623						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCCTGCACTCCCCAGGGAGCC	0.652000													6	17					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	97000522	97000522	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:97000522A>T	ENST00000369278.4	+	18	2216	c.2150A>T	c.(2149-2151)aAt>aTt	p.N717I		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	717					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										GCTTTTCTTAATAGTAAAATT	0.368000													3	8					0	0	1	0	0
OR8B2	26595	broad.mit.edu	37	11	124252426	124252426	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:124252426C>T	ENST00000375013.2	-	1	832	c.814G>A	c.(814-816)Gtt>Att	p.V272I		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	272					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)		ACAGAAGAAACTTTTCCCTGC	0.418000													40	3					0	0	1	0	0
SLC14A1	6563	broad.mit.edu	37	18	43311028	43311028	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:43311028C>T	ENST00000321925.4	+	4	432	c.200C>T	c.(199-201)tCc>tTc	p.S67F	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000402943.2_5'UTR|SLC14A1_ENST00000502059.2_Intron|SLC14A1_ENST00000591943.1_3'UTR|SLC14A1_ENST00000415427.3_Missense_Mutation_p.S123F|SLC14A1_ENST00000436407.3_Missense_Mutation_p.S123F|SLC14A1_ENST00000589700.1_Missense_Mutation_p.S67F|SLC14A1_ENST00000535474.1_Intron|SLC14A1_ENST00000586142.1_Missense_Mutation_p.S67F	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	67						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						CGGGGCATATCCCAAGTGGTG	0.527000													35	2					0	0	1	0	0
MED25	81857	broad.mit.edu	37	19	50339161	50339161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50339161G>A	ENST00000312865.6	+	16	1977	c.1924G>A	c.(1924-1926)Gcc>Acc	p.A642T	MED25_ENST00000538643.1_Missense_Mutation_p.A429T	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	642	Interaction with RARA.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GAACCCTGGGGCCAACCCTCA	0.672000													6	36					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44837539	44837539	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:44837539G>A	ENST00000270162.6	-	13	1992	c.1860C>T	c.(1858-1860)gcC>gcT	p.A620A		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	620					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CGCCCCTGCTGGCCCGGCTGG	0.716000													4	14					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701533	143701533	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143701533C>T	ENST00000408922.2	+	1	512	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTCTTGGTTCCTGGGCCATTG	0.557000													24	27					0	0	1	0	0
DPPA3P2	400206	broad.mit.edu	37	14	36840614	36840614	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:36840614C>T	ENST00000557188.1	+	0	245																											TGTGTCAAGACGCCGATGGAC	0.483000													7	17					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11224057	11224057	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11224057C>T	ENST00000558518.1	+	9	1477	c.1290C>T	c.(1288-1290)gtC>gtT	p.V430V	LDLR_ENST00000557933.1_Silent_p.V430V|LDLR_ENST00000535915.1_Silent_p.V389V|LDLR_ENST00000545707.1_Silent_p.V303V|LDLR_ENST00000455727.2_Silent_p.V262V|LDLR_ENST00000558013.1_Silent_p.V430V	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	430					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GGAACGTGGTCGCTCTGGACA	0.607000													130	149					0	0	1	0	0
VNN2	8875	broad.mit.edu	37	6	133072583	133072583	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:133072583G>A	ENST00000326499.6	-	5	1025	c.901C>T	c.(901-903)Ctt>Ttt	p.L301F	VNN2_ENST00000525270.1_Missense_Mutation_p.L248F|VNN2_ENST00000525289.1_Intron	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	301	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)		ACCTCTGAAAGGAGAAGTTTT	0.433000													24	32					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220466087	220466087	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:220466087C>T	ENST00000456909.1	+	3	282	c.192C>T	c.(190-192)tcC>tcT	p.S64S	STK11IP_ENST00000295641.10_Silent_p.S75S|STK11IP_ENST00000459692.1_3'UTR			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	75					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTGCCCTCCCATCCTGCCG	0.567000													8	26					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56243460	56243460	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56243460T>C	ENST00000332836.2	-	2	1764	c.1737A>G	c.(1735-1737)gtA>gtG	p.V579V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	579						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		ATGAAGCTATTACCAAATGTT	0.353000													15	26					0	0	1	0	0
KRT34	3885	broad.mit.edu	37	17	39535885	39535885	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39535885C>T	ENST00000394001.1	-	4	843	c.813G>A	c.(811-813)agG>agA	p.R271R		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	271	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CATACTGACTCCTGGTCTCGT	0.597000													9	55					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934896	28934896	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28934896C>T	ENST00000257192.4	+	15	2949	c.2737C>T	c.(2737-2739)Cat>Tat	p.H913Y	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.H272Y	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	913					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACTATCCATCATCCTAGAGA	0.458000													71	50					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48242338	48242338	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:48242338C>T	ENST00000394747.1	-	11	2027	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	ABCC11_ENST00000356608.2_Missense_Mutation_p.E560K|ABCC11_ENST00000353782.5_Missense_Mutation_p.E560K|ABCC11_ENST00000394748.1_Missense_Mutation_p.E560K|ABCC11_ENST00000537808.1_Missense_Mutation_p.E560K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	560	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				TCACTTACCTCCTCCAGGATG	0.607000													16	26					0	0	1	0	0
OR4X1	390113	broad.mit.edu	37	11	48285762	48285762	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48285762C>T	ENST00000320048.1	+	1	350	c.350C>T	c.(349-351)gCc>gTc	p.A117V		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ATGGTGATGGCCTATGACCGC	0.527000													20	39					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140746204	140746204	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140746204C>T	ENST00000518069.1	+	1	2307	c.2307C>T	c.(2305-2307)atC>atT	p.I769I	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACCTGATCTTTCCCCAGC	0.552000													38	118					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472213	71472213	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71472213G>A	ENST00000322937.6	+	13	1213	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G	AMBN_ENST00000449493.2_Silent_p.G355G	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	370					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCCCTTCAGGGAAGATGAAGG	0.557000													10	77					0	0	1	0	0
REG1B	5968	broad.mit.edu	37	2	79314027	79314027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:79314027G>A	ENST00000305089.3	-	3	174	c.94C>T	c.(94-96)Ccc>Tcc	p.P32S		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	32					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CTGATTCGGGGATTAGGCAGC	0.493000													68	98					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108382448	108382448	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:108382448T>A	ENST00000265843.4	-	6	3896	c.3786A>T	c.(3784-3786)aaA>aaT	p.K1262N	EXPH5_ENST00000443411.1_Missense_Mutation_p.K1074N|EXPH5_ENST00000428840.1_Missense_Mutation_p.K1186N|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1255N	NM_015065.2	NP_055880.2	Q149M6	Q149M6_HUMAN	exophilin 5	1262					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TACAGAATTTTTTGCTGGGTT	0.353000													27	7					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487362	63487362	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63487362C>T	ENST00000377819.5	+	3	1542	c.1388C>T	c.(1387-1389)tCt>tTt	p.S463F	RTN3_ENST00000354497.4_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S351F|RTN3_ENST00000339997.4_Missense_Mutation_p.S444F|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	463					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TCTTTGGGTTCTGGAGTGGCC	0.453000													41	44					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31383061	31383061	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:31383061C>T	ENST00000268296.4	+	17	2237	c.2116C>T	c.(2116-2118)Ctc>Ttc	p.L706F	ITGAX_ENST00000562522.1_Missense_Mutation_p.L706F	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	706					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGTCCGAGTCCTCGGGCTGAA	0.647000													14	28					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170100032	170100032	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170100032T>C	ENST00000263816.3	-	23	3716	c.3430_splice	c.e23-1	p.N1144_splice	LRP2_ENST00000443831.1_Splice_Site_p.N1007_splice	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1144	LDL-receptor class A 10.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCTGTCGAATCTAATGTCAT	0.388000													33	15					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420926	11420926	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11420926C>T	ENST00000381842.3	-	0	294				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000440870.3_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			GGACTGGTTTCCTCCTTGTGG	0.627000													181	210					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121761086	121761086	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:121761086G>A	ENST00000261367.7	+	7	2611	c.1183G>A	c.(1183-1185)Gaa>Aaa	p.E395K	SNCAIP_ENST00000261368.8_Missense_Mutation_p.E348K|SNCAIP_ENST00000379533.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000503116.2_Missense_Mutation_p.E395K|SNCAIP_ENST00000504884.2_Missense_Mutation_p.R57Q			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	348					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		AATTCACGACGAAAATGGAAA	0.438000													84	10					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132652232	132652232	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:132652232C>T	ENST00000265342.7	-	5	771	c.522G>A	c.(520-522)caG>caA	p.Q174Q		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	174	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAGGCGCTTCTGGGAGGCAG	0.592000											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	51					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169825938	169825938	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169825938C>T	ENST00000263817.6	-	16	2057	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	645	ABC transporter 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCTTTCCTTTCCAGTAATTCT	0.438000													8	14					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15813623	15813623	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:15813623G>A	ENST00000281172.5	-	10	1298	c.862C>T	c.(862-864)Caa>Taa	p.Q288*	EPS8_ENST00000540613.1_Nonsense_Mutation_p.Q28*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.Q288*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.Q288*|EPS8_ENST00000542903.1_Nonsense_Mutation_p.Q28*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	288					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCTGCTTTTTGGAGTTTTGTG	0.289000													15	42					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	100166729	100166729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:100166729C>T	ENST00000547776.2	-	8	1098	c.1099G>A	c.(1099-1101)Gaa>Aaa	p.E367K	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E367K	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	367						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTCCCAAGTTCTTCCTCTGAA	0.393000													27	4					0	0	1	0	0
PRPSAP1	5635	broad.mit.edu	37	17	74326142	74326142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74326142G>A	ENST00000446526.3	-	6	1062	c.617C>T	c.(616-618)tCt>tTt	p.S206F	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.S103F	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	177					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						AGCATCAGGAGACTTAGCTAC	0.423000													46	91					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52430761	52430761	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52430761G>A	ENST00000420323.2	+	72	11819	c.11558G>A	c.(11557-11559)tGc>tAc	p.C3853Y		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3918	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTGCGCATCTGCATCAGCCAG	0.582000													42	139					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416652	48416652	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48416652G>A	ENST00000249598.1	-	1	201	c.42C>T	c.(40-42)tcC>tcT	p.S14S		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	14					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CAGCCAGCAGGGACAGCAGGG	0.687000													3	6					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662826	662826	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:662826G>A	ENST00000266383.5	+	14	1750	c.1737G>A	c.(1735-1737)cgG>cgA	p.R579R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	579						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACAGGATGCGGCCTCAGGCCC	0.667000													17	27					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72916232	72916232	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72916232G>A	ENST00000319642.1	-	2	881	c.699C>T	c.(697-699)gtC>gtT	p.V233V		NM_173477.2	NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	233					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CATCCTCGGAGACCTTGAAGG	0.667000													11	75					0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104449448	104449448	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:104449448G>A	ENST00000361820.3	-	2	1334	c.734C>T	c.(733-735)tCa>tTa	p.S245L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	245					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	AGAACTTAATGAATTTTCTAA	0.383000													34	6					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169654139	169654139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169654139C>T	ENST00000428432.2	+	8	1443	c.1054C>T	c.(1054-1056)Cat>Tat	p.H352Y	SAMD7_ENST00000335556.3_Missense_Mutation_p.H352Y	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	352	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			ATTTAAAGATCATGCAATTGA	0.358000													9	18					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10508849	10508849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:10508849G>A	ENST00000444303.2	+	5	872	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	AMPD3_ENST00000396554.3_Missense_Mutation_p.E302K	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	293					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GATGTTAAACGAAATGTCCGA	0.498000													61	73					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21225483	21225483	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21225483C>T	ENST00000233242.1	-	29	12938	c.12811G>A	c.(12811-12813)Gaa>Aaa	p.E4271K		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4271					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCAACAGTTCCCTATACATC	0.368000													509	190					0	0	1	0	0
NRDE2	55051	broad.mit.edu	37	14	90754901	90754901	+	Missense_Mutation	SNP	G	G	A	rs146392222		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:90754901G>A	ENST00000354366.3	-	11	3050	c.2818C>T	c.(2818-2820)Cca>Tca	p.P940S	NRDE2_ENST00000357904.3_Missense_Mutation_p.P709S	NM_017970.3	NP_060440.2			NRDE-2, necessary for RNA interference, domain containing																		GAGCCTTCTGGGAAAACAGAA	0.502000													29	52					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90004662	90004662	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:90004662C>T	ENST00000405460.2	+	39	8856	c.8760C>T	c.(8758-8760)ttC>ttT	p.F2920F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2920	Calx-beta 20.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGAATATTTCCTGGTGAATT	0.358000													34	28					0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17575650	17575650	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:17575650C>T	ENST00000375460.3	+	1	58	c.18C>T	c.(16-18)atC>atT	p.I6I		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	6					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGCAGAGAATCGTGCGTGTGT	0.597000													9	49					0	0	1	0	0
RORC	6097	broad.mit.edu	37	1	151787517	151787517	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:151787517C>T	ENST00000356728.6	-	4	774	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	RORC_ENST00000318247.6_Missense_Mutation_p.R228Q|RORC_ENST00000392697.3_Missense_Mutation_p.R282Q	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	228	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTCCACATCGGTCAGGGGT	0.612000													20	15					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802161	185802161	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:185802161G>A	ENST00000302277.6	+	4	2632	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	680						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGGAATACTGAATACAACAC	0.313000													11	44					0	0	1	0	0
GRIK5	2901	broad.mit.edu	37	19	42558547	42558547	+	Silent	SNP	G	G	A	rs150196835	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42558547G>A	ENST00000262895.3	-	8	980	c.981C>T	c.(979-981)atC>atT	p.I327I	GRIK5_ENST00000301218.4_Silent_p.I327I|GRIK5_ENST00000593562.1_Silent_p.I327I	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	327						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GCTTCACACCGATCTCCTGGC	0.652000													25	37					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55570420	55570420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55570420C>T	ENST00000373965.2	-	35	4793	c.4399G>A	c.(4399-4401)Gaa>Aaa	p.E1467K	PCDH15_ENST00000414778.1_Missense_Mutation_p.E1464K|PCDH15_ENST00000409834.1_Missense_Mutation_p.M1094I|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1467K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.M1483I|PCDH15_ENST00000395440.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGAGGCATTTCATACCTGTAA	0.418000										HNSCC(58;0.16)			28	70					0	0	1	0	0
ZNF583	147949	broad.mit.edu	37	19	56934704	56934704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56934704C>T	ENST00000333201.9	+	5	887	c.677C>T	c.(676-678)tCc>tTc	p.S226F	ZNF583_ENST00000585612.1_3'UTR|ZNF583_ENST00000291598.7_Missense_Mutation_p.S226F	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		CAGAGCTCATCCCTTACTCTT	0.378000													8	48					0	0	1	0	0
MYT1	4661	broad.mit.edu	37	20	62839557	62839557	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62839557C>T	ENST00000536311.1	+	7	1372	c.1008C>T	c.(1006-1008)ccC>ccT	p.P336P	MYT1_ENST00000328439.1_Silent_p.P336P|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	336					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACCCAGTCCCAAGCCTGAGT	0.582000													30	220					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180056959	180056959	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:180056959G>A	ENST00000261937.6	-	5	738	c.660C>T	c.(658-660)ttC>ttT	p.F220F	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.F220F|FLT4_ENST00000393347.3_Silent_p.F220F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	220	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGCACCAGGAAGGGGTTGG	0.642000													9	30					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31587077	31587077	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31587077G>A	ENST00000379416.3	-	24	2626	c.2578C>T	c.(2578-2580)Ctt>Ttt	p.L860F		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	860					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCCACCTCAAGAGCCACAACT	0.542000													19	180					0	0	1	0	0
NEK9	91754	broad.mit.edu	37	14	75567738	75567738	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:75567738G>A	ENST00000238616.5	-	16	2117	c.1959C>T	c.(1957-1959)atC>atT	p.I653I		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	653					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		AGGAGACCCTGATCACTTGCT	0.517000													16	69					0	0	1	0	0
APEH	327	broad.mit.edu	37	3	49720298	49720298	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:49720298C>T	ENST00000296456.5	+	20	2306	c.1906C>T	c.(1906-1908)Cct>Tct	p.P636S	APEH_ENST00000438011.1_Missense_Mutation_p.P641S	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	636					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCTGGCTTTCCTTTCAGCAG	0.587000													16	34					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16279248	16279248	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:16279248C>T	ENST00000343518.6	-	4	1026	c.975G>A	c.(973-975)gtG>gtA	p.V325V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	325										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTAAAAATTTCACCACTTGCT	0.328000													32	458					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136259533	136259533	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:136259533G>A	ENST00000371957.3	+	8	806	c.699G>A	c.(697-699)atG>atA	p.M233I	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.3	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	233	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GCTCCTTCATGGATGTGAGCC	0.622000													19	18					0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69513019	69513019	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:69513019C>T	ENST00000338206.5	-	6	1405	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	466					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ATGACAAACTCAATCCAGAAG	0.443000													30	45					0	0	1	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806947	6806947	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6806947C>T	ENST00000307401.4	+	1	700	c.679C>T	c.(679-681)Cat>Tat	p.H227Y		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACTGTGCTCCATATGCCATC	0.478000													35	44					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79226133	79226133	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79226133G>A	ENST00000374759.3	-	13	2190	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L	SLC38A10_ENST00000288439.5_Silent_p.L603L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	603					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGAGGATGCAGGCCCCTGTCT	0.662000													22	22					0	0	1	0	0
FSCN1	6624	broad.mit.edu	37	7	5633106	5633106	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:5633106C>T	ENST00000382361.3	+	1	653	c.539C>T	c.(538-540)gCc>gTc	p.A180V	FSCN1_ENST00000340250.6_Missense_Mutation_p.A159V	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	180					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		ATCACCCTCGCCTTCCAGGAC	0.736000													24	49					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826610	143826610	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143826610G>A	ENST00000408899.2	+	1	460	c.405G>A	c.(403-405)atG>atA	p.M135I		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ATAGCCTCATGAGCTGGAGAG	0.527000													40	129					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53581758	53581758	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:53581758G>A	ENST00000342160.3	-	60	8787	c.8330C>T	c.(8329-8331)cCa>cTa	p.P2777L	HUWE1_ENST00000262854.6_Missense_Mutation_p.P2777L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2777					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAAGCTGGTGGGGTTGGGAG	0.542000													17	13					0	0	1	0	0
TJP3	27134	broad.mit.edu	37	19	3739045	3739045	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:3739045G>A	ENST00000541714.2	+	13	2006	c.1544G>A	c.(1543-1545)aGc>aAc	p.S515N	TJP3_ENST00000587686.1_Missense_Mutation_p.S534N|TJP3_ENST00000589378.1_Missense_Mutation_p.S524N|TJP3_ENST00000262968.9_Missense_Mutation_p.S548N|TJP3_ENST00000382008.3_Missense_Mutation_p.S529N|TJP3_ENST00000539908.2_Missense_Mutation_p.S479N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	529	SH3.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGGGCAGAGCCACGCACGA	0.677000													23	40					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085303	153085303	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:153085303A>C	ENST00000285900.5	+	11	1842	c.1499A>C	c.(1498-1500)gAa>gCa	p.E500A	GRIA1_ENST00000518783.1_Missense_Mutation_p.E510A|GRIA1_ENST00000340592.5_Missense_Mutation_p.E500A|GRIA1_ENST00000521843.2_Missense_Mutation_p.E431A|GRIA1_ENST00000518142.1_Missense_Mutation_p.E420A|GRIA1_ENST00000448073.4_Missense_Mutation_p.E510A	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	500					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.I495fs*19(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTGGTCCGGGAAGAAGTTATA	0.393000													35	16					0	0	1	0	0
SEC14L4	284904	broad.mit.edu	37	22	30888114	30888114	+	Silent	SNP	G	G	A	rs145343277	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:30888114G>A	ENST00000392772.2	-	9	808	c.531C>T	c.(529-531)ttC>ttT	p.F177F	RP4-539M6.14_ENST00000442126.1_RNA|SEC14L4_ENST00000381982.3_Silent_p.F231F|SEC14L4_ENST00000255858.7_Silent_p.F231F|SEC14L4_ENST00000540456.1_Silent_p.F216F			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	231	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	CGGGGCTGATGAATTTTGTCA	0.592000													13	27					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56846671	56846671	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:56846671G>A	ENST00000370748.3	+	2	498	c.63G>A	c.(61-63)agG>agA	p.R21R	BEND6_ENST00000370750.2_Silent_p.R21R|BEND6_ENST00000370746.3_Silent_p.R21R|BEND6_ENST00000370745.1_Silent_p.R21R			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AAGGAAAGAGGAAAAGAACAG	0.353000													17	48					0	0	1	0	0
DACH2	117154	broad.mit.edu	37	X	85906113	85906113	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:85906113G>A	ENST00000373131.1	+	3	839	c.676G>A	c.(676-678)Gga>Aga	p.G226R	DACH2_ENST00000373125.4_Missense_Mutation_p.G239R|DACH2_ENST00000508860.1_Missense_Mutation_p.G72R|DACH2_ENST00000510272.1_Missense_Mutation_p.G20R	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CACTCTTCAGGGAAATGGAAG	0.433000													7	0					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140347843	140347843	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140347843G>A	ENST00000289269.5	+	1	2024	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		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													38	91					0	0	1	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453536	143453536	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143453536C>T	ENST00000470691.2	-	1	1253	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					CGGTAATTTTCCTCCACTGTT	0.368000													21	106					0	0	1	0	0
SLIT1	6585	broad.mit.edu	37	10	98808836	98808836	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:98808836G>A	ENST00000266058.4	-	14	1586	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L	SLIT1_ENST00000371070.4_Silent_p.L447L|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	447	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CCAGCCACTTGAGGTTACAGT	0.602000													44	22					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160662507	160662507	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160662507G>A	ENST00000366953.3	-	9	1758	c.1501_splice	c.e9+1	p.F500_splice	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	500					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ATTTCTTACCGAAAACCATCA	0.428000													15	15					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67129836	67129836	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:67129836C>T	ENST00000284425.2	-	6	911	c.737G>A	c.(736-738)aGa>aAa	p.R246K		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	246					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGACTTTTTTCTCTCTTTTGT	0.294000													5	30					0	0	1	0	0
DGKK	139189	broad.mit.edu	37	X	50131544	50131544	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:50131544C>T	ENST00000376025.2	-	0	2058							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATGATCATCTCTGTGGGGTAC	0.517000													11	1					0	0	1	0	0
HTR1E	3354	broad.mit.edu	37	6	87725391	87725391	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:87725391C>T	ENST00000305344.4	+	2	1042	c.339C>T	c.(337-339)ctC>ctT	p.L113L	HTR1E_ENST00000369584.1_Silent_p.L113L	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	113					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCTCCACCTCTGTGTCATTG	0.552000													15	27					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144941023	144941023	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144941023C>T	ENST00000525985.1	-	2	6470	c.6399G>A	c.(6397-6399)gaG>gaA	p.E2133E				P58107	EPIPL_HUMAN	epiplakin 1	2133						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCTTCTTCTCCTCTGTCACGT	0.527000													38	150					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55361016	55361016	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55361016G>A	ENST00000449076.1	-	5	393	c.261C>T	c.(259-261)ttC>ttT	p.F87F	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000316577.8_Silent_p.F87F	NM_001136030.2	NP_001129502.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	87																	CATGGCTGCAGAAGCCTGTCC	0.498000													9	13					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52091390	52091390	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52091390C>T	ENST00000262259.2	+	5	2164	c.1806C>T	c.(1804-1806)ttC>ttT	p.F602F	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	602					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGTCAAATTTCCATAAACATC	0.423000													36	136					0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399581	40399581	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:40399581C>T	ENST00000338305.6	-	2	1814	c.1272G>A	c.(1270-1272)cgG>cgA	p.R424R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	424	Fibronectin type-III.					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)					CAAGCACAGCCCGTTCCGGGG	0.632000													9	74					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801472	24801472	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:24801472C>T	ENST00000395799.3	+	6	1638	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	TNRC6A_ENST00000315183.7_Silent_p.S503S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	503	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGGCACTTCCCTTTCTCACC	0.478000													45	29					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071745	9071745	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9071745G>A	ENST00000397910.4	-	3	15904	c.15701C>T	c.(15700-15702)tCc>tTc	p.S5234F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5236	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCTGGGGTGGAAATTTTGCT	0.478000													62	72					0	0	1	0	0
GCM2	9247	broad.mit.edu	37	6	10877426	10877426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:10877426G>A	ENST00000379491.4	-	2	437	c.290C>T	c.(289-291)tCc>tTc	p.S97F	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	97					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTGCAGGCGGGAACCGTCGGG	0.612000													23	106					0	0	1	0	0
TGM7	116179	broad.mit.edu	37	15	43585714	43585714	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43585714G>A	ENST00000452443.2	-	2	130	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	42					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TCAGCCGGAGGTAGAAGGGCT	0.622000													73	108					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160757962	160757962	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:160757962G>A	ENST00000274547.2	-	9	1222	c.1005C>T	c.(1003-1005)ccC>ccT	p.P335P	GABRB2_ENST00000517547.1_Silent_p.P175P|GABRB2_ENST00000517901.1_Silent_p.P272P|GABRB2_ENST00000393959.1_Silent_p.P335P|GABRB2_ENST00000520240.1_Silent_p.P335P|GABRB2_ENST00000353437.6_Silent_p.P335P	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	335					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTGGCGTTGGGGCCCCCTCC	0.512000													24	79					0	0	1	0	0
LOC100128164	100128164	broad.mit.edu	37	3	169664489	169664489	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169664489C>T	ENST00000483289.2	-	0	2805				RP11-379K17.4_ENST00000487580.1_RNA	NR_027622.1																						CATACTTTTTCCTCTGCAAGG	0.522000													14	50					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13753570	13753570	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:13753570C>T	ENST00000265104.4	-	63	10748	c.10644G>A	c.(10642-10644)aaG>aaA	p.K3548K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3548					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTCATTTCCTTCCGCCAGT	0.398000									Kartagener syndrome				34	108					0	0	1	0	0
PLEKHG1	57480	broad.mit.edu	37	6	151152722	151152722	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:151152722G>A	ENST00000367328.1	+	16	2787	c.2475G>A	c.(2473-2475)aaG>aaA	p.K825K	PLEKHG1_ENST00000358517.2_Silent_p.K825K	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	825					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TGCCTCATAAGCCTGTATCTG	0.458000													20	44					0	0	1	0	0
PGBD2	267002	broad.mit.edu	37	1	249211569	249211569	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:249211569G>A	ENST00000355360.4	+	3	303	c.33G>A	c.(31-33)ttG>ttA	p.L11L	PGBD2_ENST00000462488.1_3'UTR|PGBD2_ENST00000539153.1_Silent_p.L259L|PGBD2_ENST00000329291.5_Silent_p.L262L	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	262										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATGCACCCTTGGAAGAGTTCT	0.502000													96	43					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5079889	5079889	+	Silent	SNP	C	C	T	rs148031312		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5079889C>T	ENST00000321522.2	-	1	968	c.969G>A	c.(967-969)acG>acA	p.T323T		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	323					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTCAGAACCTCGTATGTATTA	0.318000													22	23					0	0	1	0	0
STOX2	56977	broad.mit.edu	37	4	184932422	184932422	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:184932422G>A	ENST00000308497.4	+	3	3866	c.2431G>A	c.(2431-2433)Gaa>Aaa	p.E811K	STOX2_ENST00000438269.1_Missense_Mutation_p.E811K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	811					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCGGGAGAAGGAAAGAGACTT	0.517000													7	23					0	0	1	0	0
EFNA5	1946	broad.mit.edu	37	5	106762969	106762969	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:106762969G>A	ENST00000333274.6	-	2	648	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	EFNA5_ENST00000509503.1_Missense_Mutation_p.P123S	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	123					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AGAGAAAAGGGAGTGAAGAGC	0.463000													22	11					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65471549	65471549	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:65471549C>T	ENST00000286574.4	-	3	748	c.374G>A	c.(373-375)gGa>gAa	p.G125E		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	125	WIF.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		AGGCACTGTTCCCAGCAGAGG	0.443000			T	HMGA2	pleomorphic salivary gland adenoma								13	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179535837	179535837	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179535837C>T	ENST00000589042.1	-	156	35512	c.35288G>A	c.(35287-35289)cGa>cAa	p.R11763Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R10462Q|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R11389Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9881	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGCTCTTTTCGAGGAACAAC	0.363000													9	27					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43943151	43943151	+	Silent	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:43943151A>C	ENST00000343694.3	+	9	1038	c.966A>C	c.(964-966)ccA>ccC	p.P322P	RBPJL_ENST00000372741.3_Silent_p.P322P|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372743.1_Silent_p.P322P	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	322					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GCAGTCCCCCAGGAGGGGGTG	0.522000													26	90					0	0	1	0	0
GCK	2645	broad.mit.edu	37	7	44186118	44186118	+	Silent	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:44186118G>C	ENST00000403799.3	-	8	1432	c.963C>G	c.(961-963)tcC>tcG	p.S321S	GCK_ENST00000437084.1_Silent_p.S304S|GCK_ENST00000395796.3_Silent_p.S320S|GCK_ENST00000345378.2_Silent_p.S322S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	321					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GCAGCTGCTCGGAGGCCTCCC	0.647000													316	178					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	64050543	64050543	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:64050543G>A	ENST00000443617.2	-	4	1139	c.1052C>T	c.(1051-1053)tCg>tTg	p.S351L		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	351					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ACATGTTCTCGAATAATCAGA	0.398000													9	31					0	0	1	0	0
PIGU	128869	broad.mit.edu	37	20	33222506	33222506	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:33222506G>A	ENST00000374820.2	-	5	402	c.382C>T	c.(382-384)Cct>Tct	p.P128S	PIGU_ENST00000480175.1_5'UTR|PIGU_ENST00000452740.2_Missense_Mutation_p.P148S			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	148					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						ATCGTGTAAGGATTTAAGAGA	0.413000													12	28					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158505173	158505173	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:158505173C>T	ENST00000355585.4	+	22	3250	c.3175C>T	c.(3175-3177)Ctc>Ttc	p.L1059F	SYNJ2_ENST00000367112.1_Missense_Mutation_p.L144F|SYNJ2_ENST00000367122.2_Missense_Mutation_p.L1059F|SYNJ2_ENST00000367121.3_Missense_Mutation_p.L1059F	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1059							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTCACCTGCTCTCACCAAAAA	0.547000													37	58					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51411951	51411951	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51411951C>T	ENST00000319760.6	-	1	497	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACAAAACCTCCAATCATGGCC	0.453000													24	31					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175473076	175473076	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:175473076C>T	ENST00000454872.1	+	13	2187	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	687					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGAACTTTTTCAGTCTGATGA	0.488000													10	22					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38596027	38596027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38596027C>T	ENST00000413689.1	-	27	4749	c.4556G>A	c.(4555-4557)gGc>gAc	p.G1519D	SCN5A_ENST00000423572.2_Missense_Mutation_p.G1518D|SCN5A_ENST00000414099.2_Missense_Mutation_p.G1501D|SCN5A_ENST00000443581.1_Missense_Mutation_p.G1518D|SCN5A_ENST00000333535.4_Missense_Mutation_p.G1519D|SCN5A_ENST00000451551.2_Missense_Mutation_p.G1465D|SCN5A_ENST00000449557.2_Missense_Mutation_p.G1465D|SCN5A_ENST00000425664.1_Missense_Mutation_p.G1501D|SCN5A_ENST00000455624.2_Missense_Mutation_p.G1518D|SCN5A_ENST00000450102.2_Missense_Mutation_p.G1465D|SCN5A_ENST00000464652.1_5'UTR	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1519					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GAATATGAAGCCCTGGTACTT	0.512000													14	75					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2530201	2530201	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:2530201G>A	ENST00000288709.6	-	12	1283	c.1043C>T	c.(1042-1044)aCt>aTt	p.T348I	MMEL1_ENST00000378412.3_Missense_Mutation_p.T357I|MMEL1_ENST00000502556.1_Missense_Mutation_p.T200I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	357					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGATAGCACAGTTTGTATGAA	0.473000													31	18					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060190	9060190	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9060190G>A	ENST00000397910.4	-	3	27459	c.27256C>T	c.(27256-27258)Cct>Tct	p.P9086S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9088	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGCCCCAGGAGAACCTGTT	0.463000													33	62					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65494363	65494363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:65494363G>A	ENST00000261883.4	-	8	1199	c.1033C>T	c.(1033-1035)Cat>Tat	p.H345Y		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	345	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GTGTCATTATGATACCTGCAA	0.532000													36	110					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55534822	55534822	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55534822G>A	ENST00000220676.1	+	3	909	c.761G>A	c.(760-762)gGa>gAa	p.G254E		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	254					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.G254E(1)|p.G64E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TACCCCAAGGGAAATGCAAAG	0.418000													19	32					0	0	1	0	0
BLZF1	8548	broad.mit.edu	37	1	169346076	169346076	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169346076C>T	ENST00000367808.3	+	3	750	c.327C>T	c.(325-327)ttC>ttT	p.F109F	BLZF1_ENST00000329281.2_Silent_p.F109F|BLZF1_ENST00000367807.3_Silent_p.F109F			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	109					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AAGGAGAATTCCTTGGTCAGT	0.368000													43	84					0	0	1	0	0
IKZF3	22806	broad.mit.edu	37	17	37922240	37922240	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:37922240C>T	ENST00000346872.3	-	8	1394	c.1333G>A	c.(1333-1335)Gaa>Aaa	p.E445K	IKZF3_ENST00000439016.2_Missense_Mutation_p.E350K|IKZF3_ENST00000346243.3_Missense_Mutation_p.E367K|IKZF3_ENST00000439167.2_Missense_Mutation_p.E372K|IKZF3_ENST00000535189.1_Missense_Mutation_p.E411K|IKZF3_ENST00000467757.1_Missense_Mutation_p.E389K|IKZF3_ENST00000583368.1_Missense_Mutation_p.E198K|IKZF3_ENST00000377958.2_Missense_Mutation_p.E358K|IKZF3_ENST00000377945.3_Missense_Mutation_p.E311K|IKZF3_ENST00000350532.3_Missense_Mutation_p.E406K|IKZF3_ENST00000377952.2_Missense_Mutation_p.E224K|IKZF3_ENST00000351680.3_Missense_Mutation_p.E406K|IKZF3_ENST00000394189.2_Missense_Mutation_p.E263K|IKZF3_ENST00000377944.3_Missense_Mutation_p.E302K	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	445					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			ACCTCCCCTTCCTTGTTGATC	0.567000													52	106					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73736187	73736187	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:73736187C>T	ENST00000377110.2	-	1	327	c.84G>A	c.(82-84)ggG>ggA	p.G28G	TRPM3_ENST00000423814.3_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000377111.2_Silent_p.G28G	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	28						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GATTCATGACCCCTTCCAAAT	0.512000													19	28					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21106608	21106608	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:21106608C>T	ENST00000377122.4	-	21	2465	c.2069G>A	c.(2068-2070)gGa>gAa	p.G690E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	690					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTGAAGTTCTCCCTTATATTT	0.388000													17	94					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745462	135745462	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:135745462C>T	ENST00000375845.3	-	7	1010	c.980G>A	c.(979-981)gGg>gAg	p.G327E	MAP3K19_ENST00000392915.1_Missense_Mutation_p.G344E|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.G214E|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CAAAGACTGCCCTTTTTCAAA	0.398000													21	10					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56471230	56471230	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:56471230G>A	ENST00000370754.5	-	39	8096	c.8097C>T	c.(8095-8097)atC>atT	p.I2699I	DST_ENST00000446842.2_Silent_p.I2195I|DST_ENST00000370769.4_Silent_p.I2521I|DST_ENST00000361203.3_Silent_p.I2521I|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Silent_p.I2521I|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	2521					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CACCTTCAAGGATATTTGTGC	0.373000													12	26					0	0	1	0	0
SORBS2	8470	broad.mit.edu	37	4	186551710	186551710	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:186551710G>A	ENST00000431808.1	-	12	1290	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	SORBS2_ENST00000393528.3_Missense_Mutation_p.P336S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P343S|SORBS2_ENST00000319471.9_Missense_Mutation_p.P401S|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000284776.7_Missense_Mutation_p.P243S|SORBS2_ENST00000449407.2_Missense_Mutation_p.P314S|SORBS2_ENST00000448662.2_Missense_Mutation_p.P331S|SORBS2_ENST00000437304.2_Missense_Mutation_p.P494S|SORBS2_ENST00000418609.1_Missense_Mutation_p.P147S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	243						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TACCTCATGGGTCTTTCCAGG	0.338000													15	20					0	0	1	0	0
KRT16	3868	broad.mit.edu	37	17	39768523	39768523	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39768523C>T	ENST00000301653.4	-	1	482	c.418G>A	c.(418-420)Gag>Aag	p.E140K		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	140	Coil 1A.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCGTTGGCCTCCTCCAGAGCA	0.582000													31	116					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97604267	97604267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:97604267G>A	ENST00000371203.5	+	4	621	c.34G>A	c.(34-36)Gat>Aat	p.D12N	ENTPD1_ENST00000543964.1_Missense_Mutation_p.D42N|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.D150N|ENTPD1_ENST00000539125.1_Missense_Mutation_p.D12N|ENTPD1_ENST00000453258.2_Missense_Mutation_p.D157N|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371207.3_Missense_Mutation_p.D162N	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	150					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		CAGGGTTCTGGATGTGGTGGA	0.443000													35	97					0	0	1	0	0
FAM45B	55855	broad.mit.edu	37	X	129629405	129629405	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:129629405C>T	ENST00000458525.1	-	0	1015				FAM45B_ENST00000592932.1_RNA																							TTTCTATTGTCCTGACCGCCA	0.378000													31	44					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33954667	33954667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:33954667G>A	ENST00000389232.4	+	35	5006	c.4936G>A	c.(4936-4938)Gag>Aag	p.E1646K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1646K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1646	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCCCGGACGAGTCCAAGAG	0.567000													8	46					0	0	1	0	0
PLIN4	729359	broad.mit.edu	37	19	4513418	4513418	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:4513418C>T	ENST00000301286.3	-	3	511	c.512G>A	c.(511-513)gGg>gAg	p.G171E		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	171	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTACGGTCCCTTTGGCCAC	0.632000													6	49					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155313240	155313240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155313240G>A	ENST00000368346.3	-	24	8812	c.8173C>T	c.(8173-8175)Ccc>Tcc	p.P2725S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P2720S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2725	BAH.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GTTTCGTGGGGACGGAAATAA	0.463000													46	37					0	0	1	0	0
E2F1	1869	broad.mit.edu	37	20	32265097	32265097	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:32265097C>T	ENST00000343380.5	-	6	1019	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	294	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGAAAACATCGATCGGGCCT	0.592000													11	46					0	0	1	0	0
KLHL24	54800	broad.mit.edu	37	3	183381248	183381248	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183381248C>T	ENST00000454652.1	+	5	1309	c.923C>T	c.(922-924)tCc>tTc	p.S308F	KLHL24_ENST00000242810.6_Missense_Mutation_p.S308F|KLHL24_ENST00000476808.1_Missense_Mutation_p.S308F			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	308						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TATTTTAGGTCCACTGGCTAT	0.338000													14	37					0	0	1	0	0
PDE7B	27115	broad.mit.edu	37	6	136472298	136472298	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:136472298G>A	ENST00000308191.6	+	6	686	c.382_splice	c.e6-1	p.G128_splice	RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000591521.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	128					signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	TTTCCTGCAGGAAACAGCCTG	0.373000													10	15					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10265785	10265785	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10265785C>T	ENST00000418404.3	-	3	403	c.240G>A	c.(238-240)atG>atA	p.M80I	MYH13_ENST00000570743.1_Missense_Mutation_p.M80I|MYH13_ENST00000252172.4_Missense_Mutation_p.M80I			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	80	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGAGGGTTCATGGGGAAGA	0.483000													30	89					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128480142	128480142	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:128480142G>A	ENST00000325888.8	+	9	1738	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	FLNC_ENST00000346177.6_Missense_Mutation_p.E493K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	493					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGCGTGAAAGAGGTGGCTGA	0.642000													70	92					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324039	79324039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:79324039C>T	ENST00000428286.1	-	8	3274	c.2074G>A	c.(2074-2076)Gat>Aat	p.D692N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1051N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1051					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCATTTTCATCCAGGTTGTGA	0.468000													19	28					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100868725	100868725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:100868725C>T	ENST00000369208.3	-	10	1890	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	SIM1_ENST00000262901.4_Missense_Mutation_p.G370R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	370	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GATTTGGCCCCCTTTCTGTTG	0.512000													8	18					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510223	5510223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5510223C>T	ENST00000322641.5	+	1	309	c.287C>T	c.(286-288)tCc>tTc	p.S96F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	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													33	46					0	0	1	0	0
PPP4R4	57718	broad.mit.edu	37	14	94718122	94718122	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94718122G>A	ENST00000304338.3	+	16	1908	c.1754G>A	c.(1753-1755)cGa>cAa	p.R585Q		NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	585						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						AATAGACTTCGATTTTTGGAT	0.279000													19	23					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1274170	1274170	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1274170G>A	ENST00000447027.1	+	33	15244	c.15186G>A	c.(15184-15186)tcG>tcA	p.S5062S	MUC5B_ENST00000529681.1_Silent_p.S5059S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5059					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCAAAGTGTCGGACCCGAGCC	0.647000													7	20					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49846637	49846637	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49846637G>A	ENST00000377214.4	-	9	1299	c.937C>T	c.(937-939)Cca>Tca	p.P313S	TEAD2_ENST00000598810.1_Missense_Mutation_p.P314S|TEAD2_ENST00000311227.2_Missense_Mutation_p.P310S|TEAD2_ENST00000593945.1_Missense_Mutation_p.P314S|TEAD2_ENST00000539846.1_Missense_Mutation_p.P182S|TEAD2_ENST00000601519.1_Missense_Mutation_p.P313S			Q15562	TEAD2_HUMAN	TEA domain family member 2	310	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TCACCACTTGGGCCCCAGTTC	0.602000													18	79					0	0	1	0	0
DOCK1	1793	broad.mit.edu	37	10	129055604	129055604	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129055604C>T	ENST00000280333.6	+	29	3001	c.2892C>T	c.(2890-2892)ttC>ttT	p.F964F	DOCK1_ENST00000484400.1_3'UTR	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	964					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		TTCAGGATTTCCTAATGGAAA	0.353000													3	9					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103573682	103573682	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:103573682G>A	ENST00000358392.2	-	1	370	c.53C>T	c.(52-54)aCc>aTc	p.T18I	COL11A1_ENST00000353414.4_Missense_Mutation_p.T18I|COL11A1_ENST00000370096.3_Missense_Mutation_p.T18I|COL11A1_ENST00000512756.1_Missense_Mutation_p.T18I	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	18					collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTTGTTACGGTGAAATCCCA	0.532000													17	2					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136032	40136032	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:40136032G>A	ENST00000278198.2	-	2	3774	c.1811C>T	c.(1810-1812)cCc>cTc	p.P604L	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P604L|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P604L|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P604L			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	604					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTGGTTGAAGGGAGATTTGTA	0.423000													19	112					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850012	73850012	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:73850012G>A	ENST00000523207.1	+	3	3010	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	808					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CACTGAAATAGATACTGGTGA	0.527000													9	47					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514289	47514289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:47514289G>A	ENST00000371901.3	+	10	1510	c.1260G>A	c.(1258-1260)tgG>tgA	p.W420*	CYP4X1_ENST00000538609.1_Nonsense_Mutation_p.W419*	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	420						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CTGCTGTCTGGAAAAACCCAA	0.418000													38	43					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43420371	43420371	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43420371G>A	ENST00000601833.1	-	2	1403	c.120C>T	c.(118-120)gtC>gtT	p.V40V	PSG6_ENST00000402603.4_Silent_p.V111V|PSG6_ENST00000292125.2_Silent_p.V111V|PSG6_ENST00000187910.2_Silent_p.V111V					pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				CCTCCTGTGTGACATTCTGGA	0.443000													166	202					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146351039	146351039	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:146351039C>T	ENST00000392299.2	+	2	856	c.386C>T	c.(385-387)tCc>tTc	p.S129F	GRM1_ENST00000492807.2_Missense_Mutation_p.S129F|GRM1_ENST00000282753.1_Missense_Mutation_p.S129F|GRM1_ENST00000355289.4_Missense_Mutation_p.S129F|GRM1_ENST00000361719.2_Missense_Mutation_p.S129F|GRM1_ENST00000507907.1_Missense_Mutation_p.S129F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	129					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCTCTGATTTCCATTCGAGAT	0.582000													16	23					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806208	97806208	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:97806208C>T	ENST00000358642.2	+	1	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TGTACTTATTCCTTGGTGGTT	0.433000													46	136					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751661	76751661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76751661C>T	ENST00000369950.3	-	2	439	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	84					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TTCATGGATTCCTGTGGACAG	0.383000													14	24					0	0	1	0	0
NFXL1	152518	broad.mit.edu	37	4	47898590	47898590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47898590G>A	ENST00000507489.1	-	10	1455	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	NFXL1_ENST00000381538.3_Missense_Mutation_p.H427Y|NFXL1_ENST00000329043.3_Missense_Mutation_p.H427Y	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	427						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						GAACATCTATGGATTCCGCAT	0.373000													11	22					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150171631	150171631	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150171631G>A	ENST00000307271.3	+	4	1788	c.1214G>A	c.(1213-1215)gGa>gAa	p.G405E		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	405						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CGGGCAACAGGAGAAGAAGAG	0.428000													33	46					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983559	128983559	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:128983559G>A	ENST00000274487.4	+	12	2101	c.1956G>A	c.(1954-1956)ggG>ggA	p.G652G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	652	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCAGTGCTGGGATCAGCAGTC	0.522000													32	119					0	0	1	0	0
CT47B1	643311	broad.mit.edu	37	X	120009367	120009367	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:120009367C>T	ENST00000371311.3	-	1	412	c.158G>A	c.(157-159)gGa>gAa	p.G53E		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	53										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						CCCTGCGACTCCGACCACCTC	0.741000													45	4					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133254194	133254194	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:133254194G>A	ENST00000320574.5	-	7	733	c.690C>T	c.(688-690)atC>atT	p.I230I	POLE_ENST00000535270.1_Silent_p.I203I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	230					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGAGAGGCGGATGTGGTAGG	0.517000								DNA polymerases (catalytic subunits)					25	19					0	0	1	0	0
ICA1	3382	broad.mit.edu	37	7	8181422	8181422	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:8181422G>A	ENST00000402384.3	-	10	1194	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	ICA1_ENST00000401396.1_Nonsense_Mutation_p.Q298*|ICA1_ENST00000396675.3_Nonsense_Mutation_p.Q310*|ICA1_ENST00000265577.7_Nonsense_Mutation_p.Q309*|ICA1_ENST00000422063.2_Nonsense_Mutation_p.Q339*|ICA1_ENST00000406470.2_Nonsense_Mutation_p.Q310*			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	310					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TCCTTGCGCTGGTTTTCTTCC	0.289000													8	46					0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847042	22847042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22847042C>T	ENST00000456783.2	+	4	815	c.571C>T	c.(571-573)Cat>Tat	p.H191Y		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TAAAAGAATTCATACTGGAAA	0.368000													6	14					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179631268	179631268	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:179631268G>A	ENST00000444136.1	+	15	2602	c.2352G>A	c.(2350-2352)ctG>ctA	p.L784L	TDRD5_ENST00000294848.8_Silent_p.L730L|TDRD5_ENST00000367614.1_Silent_p.L730L	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	781					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding	p.L730L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGCCATGCCTGGAGTCAGTGA	0.403000													48	53					0	0	1	0	0
TMTC1	83857	broad.mit.edu	37	12	29920847	29920847	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:29920847G>A	ENST00000256062.5	-	2	613	c.140C>T	c.(139-141)cCt>cTt	p.P47L	TMTC1_ENST00000552618.1_Missense_Mutation_p.P155L|TMTC1_ENST00000539277.1_Missense_Mutation_p.P155L|TMTC1_ENST00000381224.2_Missense_Mutation_p.P47L|TMTC1_ENST00000551659.1_Missense_Mutation_p.P155L	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	155						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AGTATGAATAGGATGTACAGC	0.378000													14	19					0	0	1	0	0
OR8D4	338662	broad.mit.edu	37	11	123777295	123777295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123777295C>T	ENST00000321355.2	+	1	187	c.157C>T	c.(157-159)Cgt>Tgt	p.R53C		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TAGGCTGAATCGTCAACTTCA	0.408000													63	10					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659734	24659734	+	RNA	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:24659734T>C	ENST00000414583.2	+	0	3259					NR_003714.1																						CTCTCTCCTGTGGGAGGGGGG	0.632000													5	16					0	0	1	0	0
SDR16C5	195814	broad.mit.edu	37	8	57224838	57224838	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:57224838C>T	ENST00000522671.1	-	3	1074	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K	SDR16C5_ENST00000303749.3_Missense_Mutation_p.E115K|SDR16C5_ENST00000396721.2_Intron			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	115					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCGCCGACTTCTTTTTTAACC	0.373000													16	38					0	0	1	0	0
ARID4A	5926	broad.mit.edu	37	14	58813147	58813147	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:58813147C>T	ENST00000355431.3	+	13	1371	c.998C>T	c.(997-999)cCa>cTa	p.P333L	ARID4A_ENST00000431317.2_Missense_Mutation_p.P333L|ARID4A_ENST00000348476.3_Missense_Mutation_p.P333L|ARID4A_ENST00000395168.3_Missense_Mutation_p.P333L	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	333	ARID.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATCAACAAACCACCTGTTTTG	0.318000													5	28					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5773086	5773086	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:5773086C>T	ENST00000328090.5	+	11	1749	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	375																	AAAAGAACTGCTTCCAGAGCA	0.463000													26	69					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1813756	1813756	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1813756G>T	ENST00000250894.4	+	17	2151	c.1994G>T	c.(1993-1995)gGc>gTc	p.G665V	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.G659V	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	665					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CAGGCCTGCGGCTGGAGCCTG	0.746000													6	2					5.9392e-07	5.9632e-07	1	1	0
TNS1	7145	broad.mit.edu	37	2	218696248	218696248	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:218696248G>A	ENST00000171887.4	-	20	3380	c.2928C>T	c.(2926-2928)gcC>gcT	p.A976A	TNS1_ENST00000430930.1_Silent_p.A976A|TNS1_ENST00000419504.1_Silent_p.A976A	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	976						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGGGTGTCTTGGCCAGACCCG	0.647000													8	8					0	0	1	0	0
ZNF160	90338	broad.mit.edu	37	19	53572700	53572700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53572700G>A	ENST00000601421.1	-	3	1855	c.979C>T	c.(979-981)Cat>Tat	p.H327Y	ZNF160_ENST00000599056.1_Missense_Mutation_p.H363Y|ZNF160_ENST00000429604.1_Missense_Mutation_p.H363Y|ZNF160_ENST00000418871.1_Missense_Mutation_p.H363Y			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	363					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TCTCCAGTATGAATTAACTGA	0.388000													17	66					0	0	1	0	0
KRT16P3	644945	broad.mit.edu	37	17	20406445	20406445	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:20406445C>T	ENST00000580113.1	-	0	621																											CTTCCATCTCCATCTCCAGGT	0.642000													8	16					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41725530	41725530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:41725530C>T	ENST00000400454.1	-	5	1273	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	266	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCTGAAAGTTCCAGGGGCATG	0.577000													24	30					0	0	1	0	0
ASPG	374569	broad.mit.edu	37	14	104571709	104571709	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:104571709G>A	ENST00000551177.1	+	10	1187	c.1095G>A	c.(1093-1095)gtG>gtA	p.V365V	ASPG_ENST00000455920.2_Silent_p.V365V|ASPG_ENST00000546892.2_Silent_p.V365V|ASPG_ENST00000549809.1_3'UTR	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	365					lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CACCCTCGGTGGAAGAGCGCC	0.677000													7	31					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096242	167096242	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:167096242G>A	ENST00000361200.2	+	6	2040	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	DUSP27_ENST00000443333.1_Missense_Mutation_p.R625Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R625Q			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	625					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGAGACAACGGAGGCTGGAG	0.617000													8	27					0	0	1	0	0
GLYAT	10249	broad.mit.edu	37	11	58482865	58482865	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58482865C>T	ENST00000344743.3	-	3	254	c.113G>A	c.(112-114)gGa>gAa	p.G38E	GLYAT_ENST00000529732.1_Missense_Mutation_p.G38E|GLYAT_ENST00000278400.3_Missense_Mutation_p.G38E	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	38					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	GAATGGATTTCCATGGTTTAT	0.398000													7	42					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183975477	183975477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183975477C>T	ENST00000402825.3	+	2	413	c.413C>T	c.(412-414)gCt>gTt	p.A138V	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000324557.4_Missense_Mutation_p.A138V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	138	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCTGCTGGCTGGGGAACGA	0.587000													21	45					0	0	1	0	0
SNX2	6643	broad.mit.edu	37	5	122143971	122143971	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:122143971G>A	ENST00000379516.2	+	7	751		c.e7-1		SNX2_ENST00000510372.1_Splice_Site|SNX2_ENST00000514949.1_Splice_Site	NM_003100.2	NP_003091.2	O60749	SNX2_HUMAN	sorting nexin 2						cell communication|endocytosis|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)|skin(1)	19		all_cancers(142;1.14e-44)|all_lung(232;1.03e-13)|Lung NSC(810;2.5e-13)|Breast(839;0.000812)|Myeloproliferative disorder(839;0.0122)|Prostate(80;0.0235)|all_hematologic(541;0.0592)|all_neural(839;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	all cancers(49;2.13e-24)|Epithelial(69;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(64;5.6e-11)|BRCA - Breast invasive adenocarcinoma(61;0.00013)|GBM - Glioblastoma multiforme(465;0.000357)|COAD - Colon adenocarcinoma(49;0.000887)|Lung(113;0.0109)		CTTCTTCAAAGGGATGACCAA	0.333000													8	5					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537455	55537455	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:55537455G>A	ENST00000220676.1	+	4	1161	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	338					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATGAAAGTTCGATTCAGAATA	0.323000													8	29					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1267073	1267073	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1267073G>T	ENST00000447027.1	+	31	9030	c.8972G>T	c.(8971-8973)gGg>gTg	p.G2991V	MUC5B_ENST00000529681.1_Missense_Mutation_p.G2988V|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2988	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCACTCCAGGGACGACCTGG	0.632000													42	109					2.58029e-29	2.61569e-29	1	1	0
ZNF235	9310	broad.mit.edu	37	19	44793189	44793189	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44793189G>A	ENST00000291182.4	-	5	501	c.399C>T	c.(397-399)ttC>ttT	p.F133F	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGTGCTTGGGGAACTGAGAGC	0.453000													54	85					0	0	1	0	0
SLC25A21	89874	broad.mit.edu	37	14	37180645	37180645	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:37180645C>A	ENST00000331299.5	-	7	996	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	SLC25A21_ENST00000555449.1_Nonsense_Mutation_p.E161*	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	161					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		CCCCAGCCTTCCTTCTTAATG	0.438000													24	25					7.38237e-10	7.42993e-10	1	1	0
ATP2B2	491	broad.mit.edu	37	3	10443912	10443912	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:10443912C>T	ENST00000397077.1	-	6	1093	c.518G>A	c.(517-519)tGg>tAg	p.W173*	ATP2B2_ENST00000352432.4_Nonsense_Mutation_p.W173*|ATP2B2_ENST00000343816.4_Nonsense_Mutation_p.W173*|ATP2B2_ENST00000360273.2_Nonsense_Mutation_p.W173*|ATP2B2_ENST00000383800.4_Nonsense_Mutation_p.W173*			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	173					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CTCTTTGCTCCAGTCATTGAA	0.597000													52	136					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277642	113277642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:113277642C>T	ENST00000297405.5	-	60	9930	c.9686G>A	c.(9685-9687)aGa>aAa	p.R3229K	CSMD3_ENST00000343508.3_Missense_Mutation_p.R3189K|CSMD3_ENST00000455883.2_Missense_Mutation_p.R3060K|CSMD3_ENST00000352409.3_Missense_Mutation_p.R3159K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3229	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCATACCTCTACAAGTTGG	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	53					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391491	23391491	+	Splice_Site	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23391491G>C	ENST00000343070.2	+	12	1718		c.e12+1		SCNN1B_ENST00000568085.1_Splice_Site|SCNN1B_ENST00000568923.1_Splice_Site|SCNN1B_ENST00000307331.5_Splice_Site	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit						excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	AGCCAATAACGTGAGTTTAGG	0.532000													16	44					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62287212	62287212	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62287212C>T	ENST00000378024.4	-	5	14951	c.14677G>A	c.(14677-14679)Gaa>Aaa	p.E4893K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4893					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGGGCCTTCGAAATCCAGA	0.458000													21	24					0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74079752	74079752	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74079752G>A	ENST00000607838.1	-	20	2195	c.2101C>T	c.(2101-2103)Cgc>Tgc	p.R701C	EXOC7_ENST00000467929.2_Missense_Mutation_p.R650C|EXOC7_ENST00000405575.4_Missense_Mutation_p.R687C|EXOC7_ENST00000335146.7_Missense_Mutation_p.R729C|EXOC7_ENST00000332065.5_Missense_Mutation_p.R647C|EXOC7_ENST00000411744.2_Missense_Mutation_p.R670C|EXOC7_ENST00000589210.1_Missense_Mutation_p.R678C	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	729					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TCGAAAAGGCGATCGATCATG	0.577000													29	88					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55582895	55582895	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55582895C>T	ENST00000361849.3	-	34	4991	c.4597G>A	c.(4597-4599)Gaa>Aaa	p.E1533K	PCDH15_ENST00000320301.6_Missense_Mutation_p.E1531K|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.E1462K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1528K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1491K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1508K|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000373965.2_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1531					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.E1531*(1)|p.K1530_E1531>N*(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTATGTTTTCCTTATAAAGG	0.368000										HNSCC(58;0.16)			48	35					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152283846	152283846	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152283846C>T	ENST00000368799.1	-	3	3551	c.3516G>A	c.(3514-3516)agG>agA	p.R1172R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1172	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCTCCTCTCCTTGACCCCG	0.592000									Ichthyosis				126	548					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453967	138453967	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138453967C>T	ENST00000310018.2	-	4	429	c.147G>A	c.(145-147)agG>agA	p.R49R	ATP6V0A4_ENST00000393054.1_Silent_p.R49R|ATP6V0A4_ENST00000483139.1_5'UTR|ATP6V0A4_ENST00000353492.4_Silent_p.R49R	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	49					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCACAAATTTCCTTTGAAAGC	0.338000													24	48					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373574	5373574	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5373574C>T	ENST00000380219.1	+	1	837	c.837C>T	c.(835-837)ttC>ttT	p.F279F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCCACTTCCTTTTCCCAC	0.393000													46	63					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70916889	70916889	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:70916889C>T	ENST00000322773.4	+	51	3442	c.3340C>T	c.(3340-3342)Cag>Tag	p.Q1114*	COL19A1_ENST00000393344.1_Nonsense_Mutation_p.Q736*	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	1114					cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CCCAGGCCCACAGGGCCCCCC	0.532000													55	119					0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6296833	6296833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:6296833C>T	ENST00000226760.1	+	7	948	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	WFS1_ENST00000503569.1_Missense_Mutation_p.P260S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	260					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGGCGTCATCCCCAGCAGCCT	0.577000													86	108					0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17722638	17722638	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17722638C>T	ENST00000428389.2	-	43	4848	c.4849G>A	c.(4849-4851)Gaa>Aaa	p.E1617K	UNC13A_ENST00000252773.7_Missense_Mutation_p.E1529K|UNC13A_ENST00000551649.1_Missense_Mutation_p.E1548K|UNC13A_ENST00000550896.1_Missense_Mutation_p.E1502K|UNC13A_ENST00000552293.1_Missense_Mutation_p.E1523K|UNC13A_ENST00000519716.2_Missense_Mutation_p.E1529K			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1529	C2 3.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						ACAGAGACTTCACCCACAGGG	0.577000													19	51					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140572699	140572699	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140572699C>T	ENST00000239446.4	+	1	758	c.574C>T	c.(574-576)Cca>Tca	p.P192S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		192	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGATATATCCAGAGCTAGT	0.507000													164	63					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112042916	112042916	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:112042916G>A	ENST00000241356.4	-	2	1018	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W	ADORA3_ENST00000369716.4_Intron|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	205					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	AGTTTGTTCCGAATGATGTAA	0.428000													26	2					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48634331	48634331	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:48634331C>T	ENST00000435803.1	+	58	14690	c.14666C>T	c.(14665-14667)cCc>cTc	p.P4889L	ABCA13_ENST00000544596.1_Missense_Mutation_p.P619L	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4889	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGGATGGATCCCTGCTCTAAG	0.488000													68	95					0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8152827	8152827	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8152827G>A	ENST00000600128.1	-	53	6915	c.6501C>T	c.(6499-6501)atC>atT	p.I2167I	FBN3_ENST00000601739.1_Silent_p.I2167I|FBN3_ENST00000270509.2_Silent_p.I2167I			Q75N90	FBN3_HUMAN	fibrillin 3	2167	EGF-like 35; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGCATTCGTCGATGTCTGGGG	0.672000													52	33					0	0	1	0	0
MIR363	574031	broad.mit.edu	37	X	133303441	133303441	+	RNA	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:133303441T>A	ENST00000384840.1	-	0	41					NR_029852.1																						ATTTTTCTCCTATGATACTCA	0.383000													17	19					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66240227	66240227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:66240227G>A	ENST00000380828.2	+	5	467	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.E65K|KCTD7_ENST00000451741.2_Missense_Mutation_p.E65K|RABGEF1_ENST00000450873.2_Missense_Mutation_p.E65K|RABGEF1_ENST00000284957.5_Missense_Mutation_p.E65K|RABGEF1_ENST00000437078.2_Missense_Mutation_p.E79K|RABGEF1_ENST00000439720.2_Missense_Mutation_p.E78K			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CCAGCGGGAGGAAGAAGAGGC	0.468000													31	25					0	0	1	0	0
MIR519B	574469	broad.mit.edu	37	19	54198494	54198494	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54198494C>T	ENST00000385090.1	+	0	28					NR_030191.1																						GAGGGAAGCGCTTTCTGTTGT	0.403000													47	54					0	0	1	0	0
C3orf36	80111	broad.mit.edu	37	3	133647335	133647335	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:133647335G>A	ENST00000408895.2	-	1	1321	c.313C>T	c.(313-315)Cct>Tct	p.P105S		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	105										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGTGAGCAAGGTGGGGGCCCC	0.682000													20	4					0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1254385	1254385	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1254385C>T	ENST00000300952.2	+	5	1119	c.604C>T	c.(604-606)Ccc>Tcc	p.P202S	MIDN_ENST00000591446.2_Missense_Mutation_p.P202S	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	202						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCGAGTCCCCCCGGTGCC	0.766000													2	1					0	0	1	0	0
KIF22	3835	broad.mit.edu	37	16	29816468	29816468	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:29816468G>A	ENST00000561482.1	+	13	2356	c.1719G>A	c.(1717-1719)acG>acA	p.T573T	KIF22_ENST00000569382.2_Silent_p.T587T|KIF22_ENST00000160827.4_Silent_p.T641T|KIF22_ENST00000400751.5_Silent_p.T573T	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	641					blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						AGGGCATAACGGGGAAACAGA	0.682000													22	55					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58109198	58109198	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:58109198G>A	ENST00000357272.4	+	21	3670	c.3505G>A	c.(3505-3507)Gaa>Aaa	p.E1169K	FLNB_ENST00000358537.3_Missense_Mutation_p.E1169K|FLNB_ENST00000429972.2_Missense_Mutation_p.E1169K|FLNB_ENST00000490882.1_Missense_Mutation_p.E1169K|FLNB_ENST00000419752.2_Missense_Mutation_p.E1000K|FLNB_ENST00000295956.4_Missense_Mutation_p.E1169K|FLNB_ENST00000348383.5_Missense_Mutation_p.E1169K|FLNB_ENST00000493452.1_Missense_Mutation_p.E1000K			O75369	FLNB_HUMAN	filamin B, beta	1169	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGGCCTGGAAGCTGTCTC	0.627000													40	60					0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48760186	48760186	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:48760186G>A	ENST00000316623.5	-	38	5151	c.4696C>T	c.(4696-4698)Ctg>Ttg	p.L1566L		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1566	TB 6.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GCTTTACCCAGAGAACAGCAG	0.443000													14	74					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32012967	32012967	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32012967G>A	ENST00000375244.3	-	32	10944	c.10743C>T	c.(10741-10743)ggC>ggT	p.G3581G	TNXB_ENST00000451343.1_Silent_p.G10G|TNXB_ENST00000375247.2_Silent_p.G3579G			P22105	TENX_HUMAN	tenascin XB	3626					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AATCAAAGGGGCCCTGGGCCA	0.647000													126	476					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7228681	7228681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7228681C>T	ENST00000399464.2	-	8	1493	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	NEURL4_ENST00000315614.7_Missense_Mutation_p.R493Q|NEURL4_ENST00000570460.1_Missense_Mutation_p.R471Q	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCGTTGTTTCGGCGGAGACG	0.642000													26	55					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537588	54537588	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:54537588G>A	ENST00000474759.1	+	5	499	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E151K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E151K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E57K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	151						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GCTGGGAAAGGAATTCATCTT	0.373000													47	28					0	0	1	0	0
ZNF606	80095	broad.mit.edu	37	19	58489985	58489985	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58489985G>A	ENST00000341164.4	-	7	2683	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	ZNF606_ENST00000536132.1_Missense_Mutation_p.S598F	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	688					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		ACAGTTAAAGGATCTTTCACA	0.403000													9	47					0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255642	5255642	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5255642C>T	ENST00000380299.3	-	1	236	c.22G>A	c.(22-24)Gag>Aag	p.E8K	HBD_ENST00000292901.3_Missense_Mutation_p.E8K	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	8					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTCTTCTCCTCAGGAGTC	0.502000													18	65					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2942398	2942398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:2942398G>A	ENST00000397461.1	+	10	1354	c.970G>A	c.(970-972)Gat>Aat	p.D324N	CNTN4_ENST00000418658.1_Missense_Mutation_p.D324N|CNTN4_ENST00000397459.2_5'UTR|CNTN4_ENST00000358480.3_Missense_Mutation_p.D105N|CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000448906.2_5'UTR|CNTN4_ENST00000427331.1_Missense_Mutation_p.D324N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	324	Ig-like C2-type 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AAAAATAAATGATATTCACGT	0.353000													13	49					0	0	1	0	0
TCEB3CL	728929	broad.mit.edu	37	18	44549192	44549192	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:44549192C>T	ENST00000451265.1	-	1	1342	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_001100817.1	NP_001094287.1			transcription elongation factor B polypeptide 3C-like											central_nervous_system(1)|lung(1)|prostate(1)	3						CGGGCGTCCACCCTTCCAGAA	0.602000													24	375					0	0	1	0	0
MYO3A	53904	broad.mit.edu	37	10	26432477	26432477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26432477C>T	ENST00000265944.5	+	21	2529	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	788	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	p.S788Y(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTTTACTTTCCCTACTTGAT	0.398000													13	46					0	0	1	0	0
TRIM44	54765	broad.mit.edu	37	11	35747577	35747577	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:35747577G>A	ENST00000299413.5	+	3	1160	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TRIM44_ENST00000532066.1_3'UTR	NM_017583.4	NP_060053.2	Q96DX7	TRI44_HUMAN	tripartite motif containing 44	285						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				GGACATCCAAGAGGCAATGGC	0.463000													11	42					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175116091	175116091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:175116091G>A	ENST00000239462.4	+	19	3897	c.3784G>A	c.(3784-3786)Gga>Aga	p.G1262R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1262	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	25					0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51165627	51165627	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51165627G>A	ENST00000293441.1	-	23	6099	c.6081C>T	c.(6079-6081)ccC>ccT	p.P2027P	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'UTR|SHANK1_ENST00000359082.3_Silent_p.P2018P|SHANK1_ENST00000391814.1_Silent_p.P2035P|SHANK1_ENST00000391813.1_Silent_p.P1414P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2027					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CTGGGTAGAGGGGTCCGGAAG	0.716000													8	10					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104926	183104926	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:183104926C>T	ENST00000435564.1	-	3	509	c.309G>A	c.(307-309)cgG>cgA	p.R103R	PDE1A_ENST00000358139.2_Silent_p.R103R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Silent_p.R87R|PDE1A_ENST00000331935.6_Silent_p.R103R|PDE1A_ENST00000456212.1_Silent_p.R103R|PDE1A_ENST00000410103.1_Silent_p.R103R|PDE1A_ENST00000409365.1_Silent_p.R87R|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Silent_p.R69R	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			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)			TCCCCATTTTCCGTGTAAAGG	0.423000													15	46					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121930398	121930398	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:121930398C>T	ENST00000265922.3	-	8	1711	c.1250G>A	c.(1249-1251)gGc>gAc	p.G417D	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		417					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CGTGGTGCTGCCGTGGCACAC	0.617000													4	0					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56058264	56058264	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56058264G>A	ENST00000313022.2	-	1	302	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GCCCATGAAGGAAATATAGTT	0.398000													50	145					0	0	1	0	0
KCNK2	3776	broad.mit.edu	37	1	215298058	215298058	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215298058C>T	ENST00000444842.2	+	3	590	c.440C>T	c.(439-441)tCc>tTc	p.S147F	KCNK2_ENST00000391894.2_Missense_Mutation_p.S132F|KCNK2_ENST00000391895.2_Missense_Mutation_p.S143F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	147							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TTGGGAAGTTCCTTCTTCTTT	0.368000													106	78					0	0	1	0	0
PAGE5	90737	broad.mit.edu	37	X	55247856	55247856	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:55247856G>A	ENST00000289619.5	+	2	346	c.101G>A	c.(100-102)gGa>gAa	p.G34E	PAGE5_ENST00000374955.3_Missense_Mutation_p.G14E|PAGE5_ENST00000374952.1_Missense_Mutation_p.G14E	NM_130467.3	NP_569734.2	Q96GU1	GGEE1_HUMAN	P antigen family, member 5 (prostate associated)	34										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						TCAGAAAGAGGAAATGACCAA	0.328000													15	16					0	0	1	0	0
C10orf55	414236	broad.mit.edu	37	10	75671464	75671464	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:75671464G>A	ENST00000409178.1	-	5	775	c.435C>T	c.(433-435)atC>atT	p.I145I	PLAU_ENST00000494287.1_Intron|PLAU_ENST00000372762.4_Intron|PLAU_ENST00000372764.3_Intron|PLAU_ENST00000446342.1_5'UTR|C10orf55_ENST00000412307.2_Silent_p.I145I	NM_001001791.2	NP_001001791.2	Q5SWW7	CJ055_HUMAN	chromosome 10 open reading frame 55	145										endometrium(1)	1	Prostate(51;0.0112)					GGGTCCTCCGGATTCCATCCA	0.627000													3	4					0	0	1	0	0
ACTRT1	139741	broad.mit.edu	37	X	127186075	127186075	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:127186075G>A	ENST00000371124.3	-	1	307	c.111C>T	c.(109-111)tcC>tcT	p.S37S		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	37						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GTCCCAAGACGGAGCTGATGA	0.468000													12	22					0	0	1	0	0
HSPA14	51182	broad.mit.edu	37	10	14894443	14894443	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:14894443G>A	ENST00000378372.3	+	8	886	c.647G>A	c.(646-648)cGg>cAg	p.R216Q		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	216					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						GGAATATATCGGGTTCTTTCA	0.383000													49	120					0	0	1	0	0
LARGE	9215	broad.mit.edu	37	22	34046486	34046486	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:34046486G>A	ENST00000354992.2	-	4	846	c.275C>T	c.(274-276)tCc>tTc	p.S92F	LARGE_ENST00000462606.1_5'UTR|LARGE_ENST00000402320.1_Missense_Mutation_p.S92F|LARGE_ENST00000337431.2_Missense_Mutation_p.S92F|LARGE_ENST00000397394.2_Missense_Mutation_p.S92F|LARGE_ENST00000437602.2_Missense_Mutation_p.S92F	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	92					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCGGCGATGGGATGGGGCTCG	0.687000													39	49					0	0	1	0	0
RNF146	81847	broad.mit.edu	37	6	127608726	127608726	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:127608726C>T	ENST00000368314.1	+	3	1392	c.968C>T	c.(967-969)cCc>cTc	p.P323L	RNF146_ENST00000356799.2_Missense_Mutation_p.P322L|RNF146_ENST00000309649.3_Missense_Mutation_p.P322L	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	323					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CAGACAGTACCCGATCGATCA	0.488000													12	22					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96239872	96239872	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:96239872C>T	ENST00000347108.3	-	18	2571	c.2139G>A	c.(2137-2139)ggG>ggA	p.G713G	DZIP1_ENST00000376829.2_Silent_p.G713G|DZIP1_ENST00000361156.3_Silent_p.G694G|DZIP1_ENST00000361396.2_Silent_p.G694G			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	713					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CTGTGTTCTTCCCGAAGCTGC	0.572000													38	26					0	0	1	0	0
MYBPC2	4606	broad.mit.edu	37	19	50961914	50961914	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50961914C>T	ENST00000357701.5	+	21	2460	c.2409C>T	c.(2407-2409)acC>acT	p.T803T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	803	Fibronectin type-III 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		ATCTCCCGACCGGAGCCAGAA	0.662000													9	35					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205027170	205027170	+	Silent	SNP	G	G	A	rs140395973		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205027170G>A	ENST00000331830.4	+	3	476	c.192G>A	c.(190-192)cgG>cgA	p.R64R		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	64	Ig-like C2-type 1.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGCGCCCGGGCCAGCCCTC	0.647000													29	17					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44570477	44570477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44570477C>T	ENST00000591793.1	+	7	909	c.826C>T	c.(826-828)Cct>Tct	p.P276S	ZNF223_ENST00000434772.3_Missense_Mutation_p.P166S			Q9UK11	ZN223_HUMAN	zinc finger protein 223	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTTTGATCTTCCTCAGCAAAT	0.433000													28	114					0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188876	32188876	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32188876C>T	ENST00000375023.3	-	4	816	c.678G>A	c.(676-678)caG>caA	p.Q226Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	226	EGF-like 5; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGACCCTCCTGCCCCACAG	0.632000													224	356					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137630654	137630654	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137630654G>A	ENST00000371817.3	+	11	1908	c.1494_splice	c.e11+1	p.R498_splice		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	498	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGAGAAAGGGTAAGAGGTT	0.562000													45	2					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783671	169783671	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169783671G>A	ENST00000263817.6	-	26	3737	c.3613C>T	c.(3613-3615)Cca>Tca	p.P1205S		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1205	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTCACCTCTGGGAGTGACATG	0.453000													37	96					0	0	1	0	0
KIAA2026	158358	broad.mit.edu	37	9	5920789	5920789	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:5920789A>G	ENST00000399933.3	-	8	5206	c.5207T>C	c.(5206-5208)tTa>tCa	p.L1736S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.L1706S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1736										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		AGCTGATGTTAAACATTTAGG	0.423000													65	10					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58102135	58102135	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58102135G>A	ENST00000597850.1	+	4	1171	c.956G>A	c.(955-957)gGa>gAa	p.G319E	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.G306E|ZIK1_ENST00000599456.1_Missense_Mutation_p.G264E	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATACACACTGGAGCAAGGCCT	0.453000													16	39					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9212986	9212986	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9212986G>A	ENST00000305456.2	-	1	996	c.997C>T	c.(997-999)Ctg>Ttg	p.L333L		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						GCACACCACAGAAGAGAAGGT	0.418000													22	31					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2230299	2230299	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2230299G>A	ENST00000343516.6	-	18	3162	c.3070C>T	c.(3070-3072)Cct>Tct	p.P1024S		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1024	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						TGGCCCTCAGGAGGCCTGCGG	0.721000													3	3					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42524256	42524256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:42524256C>T	ENST00000381668.5	-	22	2099	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	ATP8A1_ENST00000264449.10_Missense_Mutation_p.R608Q	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	623					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	ATAGACTGCTCGCCACTCCTG	0.433000													12	7					0	0	1	0	0
CARM1	10498	broad.mit.edu	37	19	11018788	11018788	+	Silent	SNP	G	G	A	rs141502552	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11018788G>A	ENST00000327064.4	+	3	610	c.420G>A	c.(418-420)cgG>cgA	p.R140R	CARM1_ENST00000344150.4_Silent_p.R140R	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	140					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCAGCGAGCGGACGGAGGAGT	0.637000													28	84					0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231102957	231102957	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:231102957C>T	ENST00000392045.3	+	3	381	c.267C>T	c.(265-267)gtC>gtT	p.V89V	SP140_ENST00000486687.2_Silent_p.V89V|SP140_ENST00000350136.5_Silent_p.V69V|SP140_ENST00000343805.6_Silent_p.V89V|SP140_ENST00000544128.1_3'UTR|SP140_ENST00000417495.3_Silent_p.V89V|SP140_ENST00000420434.3_Silent_p.V89V|SP140_ENST00000373645.3_Silent_p.V89V	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	89	HSR.				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAACCTGGTCCCAGTGACAA	0.378000													8	28					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25188027	25188027	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:25188027C>T	ENST00000360031.2	+	3	549	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	ENTPD6_ENST00000433259.2_Missense_Mutation_p.P124S|ENTPD6_ENST00000354989.5_Missense_Mutation_p.P107S|ENTPD6_ENST00000376652.4_Missense_Mutation_p.P124S	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	124						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CACCCGGCCCCCCAGAGGTAC	0.632000													9	24					0	0	1	0	0
LGALS12	85329	broad.mit.edu	37	11	63283053	63283053	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63283053G>A	ENST00000415491.2	+	7	1163	c.549G>A	c.(547-549)agG>agA	p.R183R	LGALS12_ENST00000340246.5_Silent_p.R245R|LGALS12_ENST00000425950.2_Silent_p.R174R|LGALS12_ENST00000255684.5_Silent_p.R235R|LGALS12_ENST00000394618.3_Silent_p.R244R	NM_001142537.1	NP_001136009.1	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	244	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						TGAGCCTGAGGGACCAGGCTG	0.612000													15	61					0	0	1	0	0
C14orf159	80017	broad.mit.edu	37	14	91681763	91681763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:91681763G>A	ENST00000518868.1	+	16	2269	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	C14orf159_ENST00000525393.2_Missense_Mutation_p.G398R|C14orf159_ENST00000523771.1_Missense_Mutation_p.G522R|C14orf159_ENST00000522322.1_Missense_Mutation_p.G522R|C14orf159_ENST00000521077.2_Missense_Mutation_p.G487R|C14orf159_ENST00000523816.1_Missense_Mutation_p.G522R|C14orf159_ENST00000520328.1_Missense_Mutation_p.G470R|C14orf159_ENST00000428926.2_Missense_Mutation_p.G522R|C14orf159_ENST00000412671.2_Missense_Mutation_p.G527R|C14orf159_ENST00000256324.10_Missense_Mutation_p.G527R			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	522						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TTCTAACTGGGGAGGCTATGC	0.522000													43	57					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123556262	123556262	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:123556262C>T	ENST00000422452.2	-	24	4394	c.4331G>A	c.(4330-4332)gGg>gAg	p.G1444E	TENM1_ENST00000371130.3_Missense_Mutation_p.G1437E|STAG2_ENST00000469481.1_3'UTR	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GAAGAGCAGCCCGCTGTGGGA	0.532000													26	49					0	0	1	0	0
CNOT3	4849	broad.mit.edu	37	19	54656727	54656727	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54656727C>T	ENST00000406403.1	+	15	3631	c.2028C>T	c.(2026-2028)taC>taT	p.Y676Y	CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000358389.3_Silent_p.Y495Y|CNOT3_ENST00000221232.5_Silent_p.Y676Y			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	676					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCATCTTCTACTATCTGGAGG	0.687000													28	119					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167021975	167021975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:167021975C>T	ENST00000061240.2	+	21	3636	c.2989C>T	c.(2989-2991)Cat>Tat	p.H997Y	TLL1_ENST00000507499.1_Missense_Mutation_p.H1020Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	997	CUB 5.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAAGGGATTTCATATAAGATA	0.343000													30	53					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85441753	85441753	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:85441753G>A	ENST00000521268.1	+	2	1302	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	RALYL_ENST00000522455.1_Missense_Mutation_p.R66Q|RALYL_ENST00000521695.1_Missense_Mutation_p.R66Q|RALYL_ENST00000518566.1_Missense_Mutation_p.R66Q|RALYL_ENST00000517638.1_Missense_Mutation_p.R79Q	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	66	RRM.						identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						ATGAGTGAGCGACATGCAAGA	0.428000													14	23					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30750077	30750077	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:30750077C>T	ENST00000262518.4	+	34	9101	c.8716C>T	c.(8716-8718)Cct>Tct	p.P2906S	SRCAP_ENST00000344771.4_Missense_Mutation_p.P2748S|SRCAP_ENST00000395059.2_Missense_Mutation_p.P2844S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2906	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TGTTGCAGATCCTGTCCTGGA	0.577000													20	17					0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109104204	109104204	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:109104204T>C	ENST00000309863.6	+	17	4694	c.3980T>C	c.(3979-3981)gTt>gCt	p.V1327A		NM_181453.3	NP_852118.1	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1327					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AAAGTCCGAGTTCATAATGTT	0.363000													20	45					0	0	1	0	0
ENTPD2	954	broad.mit.edu	37	9	139945407	139945407	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139945407G>A	ENST00000355097.2	-	5	768	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	ENTPD2_ENST00000312665.5_Missense_Mutation_p.L241F	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	241						integral to membrane	ATP binding	p.F240_C242delFLC(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCATAGCAGAGGAAGCTGTGG	0.622000													20	4					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35745412	35745412	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:35745412G>A	ENST00000400445.3	+	26	4780	c.4246G>A	c.(4246-4248)Gaa>Aaa	p.E1416K	NBEA_ENST00000379939.2_Missense_Mutation_p.E1413K|NBEA_ENST00000310336.4_Missense_Mutation_p.E1416K|NBEA_ENST00000540320.1_Missense_Mutation_p.E1416K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1416						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTAAAGACGGAATTGGAAAA	0.333000													12	17					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117696834	117696834	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117696834C>T	ENST00000317775.6	-	15	3154	c.2469G>A	c.(2467-2469)ggG>ggA	p.G823G	NOS1_ENST00000338101.4_Silent_p.G823G|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	823	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATCTCACCTCCCCATTCTCAG	0.488000													11	50					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1029144	1029144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1029144G>A	ENST00000421673.2	-	11	1332	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	428	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TCGGGAAGCTGGGGGCTCTGC	0.687000													10	12					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196801428	196801428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196801428C>T	ENST00000312428.6	-	20	3267	c.3167G>A	c.(3166-3168)gGa>gAa	p.G1056E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1056	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTCATTAAGTCCTTTAAGAAT	0.333000													12	36					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32137751	32137751	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32137751C>T	ENST00000312561.4	+	4	4276	c.3862C>T	c.(3862-3864)Ccc>Tcc	p.P1288S	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TAAACTAAATCCCTTGCAAAA	0.343000													18	16					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133575	22133575	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22133575C>T	ENST00000408935.1	+	1	279	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		AGACCATTTCCTTTGACAACT	0.438000													102	130					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187894	100187894	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100187894G>A	ENST00000241071.6	+	3	558	c.236G>A	c.(235-237)tGg>tAg	p.W79*	FBXO24_ENST00000360609.2_Nonsense_Mutation_p.W79*|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Nonsense_Mutation_p.W67*|FBXO24_ENST00000465843.1_Nonsense_Mutation_p.W79*|FBXO24_ENST00000427939.2_Nonsense_Mutation_p.W117*|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	79	F-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAAGGCGTGTGGAGACGCATC	0.587000													9	49					0	0	1	0	0
FUT9	10690	broad.mit.edu	37	6	96651774	96651774	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:96651774T>A	ENST00000302103.5	+	3	1069	c.743T>A	c.(742-744)aTc>aAc	p.I248N		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	248					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		GAAAATTCAATCCACAAGGAT	0.353000													8	7					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50957825	50957825	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50957825C>T	ENST00000374103.4	-	8	1019	c.934G>A	c.(934-936)Gac>Aac	p.D312N	OGDHL_ENST00000419399.1_Missense_Mutation_p.D255N|OGDHL_ENST00000432695.1_Missense_Mutation_p.D103N	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	312					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGCTCCAGGTCCTTGCGGATC	0.667000													3	7					0	0	1	0	0
WDR37	22884	broad.mit.edu	37	10	1175199	1175199	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:1175199C>T	ENST00000358220.1	+	14	1544	c.1400C>T	c.(1399-1401)cCc>cTc	p.P467L	WDR37_ENST00000263150.4_Missense_Mutation_p.P467L			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	467										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		GAAGACCACCCCGTGTGCAAT	0.483000													31	34					0	0	1	0	0
XPO4	64328	broad.mit.edu	37	13	21357876	21357876	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:21357876G>A	ENST00000400602.2	-	23	3476	c.3441C>T	c.(3439-3441)ctC>ctT	p.L1147L	XPO4_ENST00000255305.6_Silent_p.L1147L	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	1147					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TTACACAAAGGAGACCACCAA	0.403000													14	28					0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155590	111155590	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:111155590C>T	ENST00000262839.2	-	3	1747	c.829G>A	c.(829-831)Gaa>Aaa	p.E277K		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	277					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TCAAGCTCTTCACTGTGGTCA	0.522000													43	58					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228124588	228124588	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228124588C>T	ENST00000396578.3	+	19	1271	c.1109C>T	c.(1108-1110)cCa>cTa	p.P370L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	370	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		GCTCGTGGCCCACAAGGTAAG	0.423000													21	36					0	0	1	0	0
ADGRG1	9289	broad.mit.edu	37	16	57693313	57693313	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:57693313C>T	ENST00000388812.4	+	11	1733	c.1293C>T	c.(1291-1293)ccC>ccT	p.P431P	GPR56_ENST00000540164.2_Intron|GPR56_ENST00000568908.1_Intron|GPR56_ENST00000379696.3_Silent_p.P431P|GPR56_ENST00000544297.1_Intron|GPR56_ENST00000568909.1_Silent_p.P431P|GPR56_ENST00000538815.1_Intron|GPR56_ENST00000456916.1_Silent_p.P431P|GPR56_ENST00000562558.1_Intron|GPR56_ENST00000388813.5_Intron|GPR56_ENST00000562631.1_Intron|GPR56_ENST00000379694.4_Silent_p.P261P|GPR56_ENST00000567835.1_Silent_p.P431P			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	431					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CCAGGGTGCCCCTGCCGTGCA	0.632000													11	34					0	0	1	0	0
FAM196A	642938	broad.mit.edu	37	10	128952171	128952171	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:128952171C>T	ENST00000522781.1	-	5	1756	c.1201G>A	c.(1201-1203)Ggg>Agg	p.G401R	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	401										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTGTCTTGCCCCGTCCGATAT	0.438000													8	30					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79181018	79181018	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79181018G>A	ENST00000269392.4	-	4	541	c.294C>T	c.(292-294)ttC>ttT	p.F98F	AZI1_ENST00000450824.2_Silent_p.F98F|AZI1_ENST00000575907.1_Silent_p.F98F|AZI1_ENST00000374782.3_Silent_p.F98F	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	98					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			AGAGCATCAGGAAGTCTGTGG	0.632000													9	38					0	0	1	0	0
NPY1R	4886	broad.mit.edu	37	4	164246629	164246629	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:164246629G>A	ENST00000296533.2	-	3	1512	c.981C>T	c.(979-981)ttC>ttT	p.F327F	NPY1R_ENST00000509586.1_Silent_p.F84F	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	327					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	p.F327F(1)		breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				AGTCTCTCTGGAAGTTTTTGT	0.433000													48	58					0	0	1	0	0
ZNF175	7728	broad.mit.edu	37	19	52090935	52090935	+	Missense_Mutation	SNP	G	G	A	rs144001773		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52090935G>A	ENST00000262259.2	+	5	1709	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	451					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		TGTGTGTATCGAATGCGGGCA	0.488000													8	29					0	0	1	0	0
PPY	5539	broad.mit.edu	37	17	42018982	42018982	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42018982G>A	ENST00000591228.1	-	2	128	c.41C>T	c.(40-42)tCc>tTc	p.S14F	PPY_ENST00000587006.1_Missense_Mutation_p.S14F|PPY_ENST00000225992.3_Missense_Mutation_p.S14F			P01298	PAHO_HUMAN	pancreatic polypeptide	14					digestion|protein secretion	extracellular region	hormone activity			large_intestine(2)|lung(1)|skin(1)	4		Breast(137;0.00314)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CACGCAGGTGGACAGGAGCAG	0.652000													20	35					0	0	1	0	0
ALDH3B2	222	broad.mit.edu	37	11	67433000	67433000	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67433000G>A	ENST00000349015.3	-	7	900	c.462C>T	c.(460-462)ttC>ttT	p.F154F	ALDH3B2_ENST00000530069.1_Silent_p.F154F	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	154					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TGAAGTAGCAGAACCAGGCCA	0.662000													35	134					0	0	1	0	0
LCN9	392399	broad.mit.edu	37	9	138557709	138557709	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:138557709C>T	ENST00000277526.3	+	6	478	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	160						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		CCTTCCAGATCCCTGCTACTC	0.692000													4	5					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796656	21796656	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21796656G>A	ENST00000206660.6	+	18	2969	c.2969G>A	c.(2968-2970)gGa>gAa	p.G990E	RPGRIP1_ENST00000557771.1_Missense_Mutation_p.G952E|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.G647E|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.G990E|RPGRIP1_ENST00000307974.4_Missense_Mutation_p.G349E|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.G316E			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	990	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CCTCATGGGGGAGAAAGAAAG	0.433000													30	43					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196661399	196661399	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:196661399C>T	ENST00000312428.6	-	56	10516	c.10416G>A	c.(10414-10416)atG>atA	p.M3472I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3472	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTAACATCTTCATAGCAATGG	0.428000													16	7					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247921025	247921025	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247921025G>A	ENST00000408896.2	-	1	957	c.684C>T	c.(682-684)atC>atT	p.I228I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GAGTAGAGGTGATCTTCAGAA	0.493000													36	24					0	0	1	0	0
MIDN	90007	broad.mit.edu	37	19	1251902	1251902	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:1251902T>C	ENST00000300952.2	+	4	899		c.e4+2		MIDN_ENST00000591446.2_Splice_Site	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin							nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGACGCAGGTAAGACCTCGC	0.652000													11	6					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67225861	67225861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:67225861G>A	ENST00000438189.2	+	6	700	c.356G>A	c.(355-357)gGa>gAa	p.G119E	CABP4_ENST00000325656.5_Missense_Mutation_p.G224E			P57796	CABP4_HUMAN	calcium binding protein 4	224					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GACAGGGATGGACGAATTACG	0.602000													19	35					0	0	1	0	0
TCTN1	79600	broad.mit.edu	37	12	111057720	111057720	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:111057720G>A	ENST00000551590.1	+	2	456	c.300G>A	c.(298-300)gtG>gtA	p.V100V	TCTN1_ENST00000550703.2_Silent_p.V100V|TCTN1_ENST00000471804.2_Silent_p.V100V|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000397655.3_Silent_p.V100V|TCTN1_ENST00000397659.4_Silent_p.V100V|TCTN1_ENST00000377654.3_5'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	100					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						GCAGCTCCGTGGATTTCAGTG	0.443000													19	81					0	0	1	0	0
SLC13A2	9058	broad.mit.edu	37	17	26820755	26820755	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26820755G>A	ENST00000444914.3	+	7	1612	c.1192G>A	c.(1192-1194)Ggc>Agc	p.G398S	SLC13A2_ENST00000314669.5_Missense_Mutation_p.G349S|SLC13A2_ENST00000545060.1_Missense_Mutation_p.G306S|SLC13A2_ENST00000537681.1_Missense_Mutation_p.G278S	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	349						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCGGGAGCCGGGCTTTTTTCT	0.587000													73	55					0	0	1	0	0
TP53I11	9537	broad.mit.edu	37	11	44959777	44959777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:44959777C>T	ENST00000533940.1	-	5	714	c.110G>A	c.(109-111)gGg>gAg	p.G37E	TP53I11_ENST00000531928.2_Missense_Mutation_p.G37E|TP53I11_ENST00000308212.5_Missense_Mutation_p.G37E|TP53I11_ENST00000531130.2_5'UTR|TP53I11_ENST00000395648.3_Missense_Mutation_p.G37E|TP53I11_ENST00000525680.1_Missense_Mutation_p.G37E	NM_001258320.1	NP_001245249.1	O14683	P5I11_HUMAN	tumor protein p53 inducible protein 11	37					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						ATGCACCTCCCCGTCGTCATC	0.672000													6	9					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983235	2983235	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2983235G>A	ENST00000342628.2	-	2	523	c.410C>T	c.(409-411)aCc>aTc	p.T137I	FOXM1_ENST00000359843.3_Missense_Mutation_p.T137I|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.T137I	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	137					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			GGTCTCCAGGGTCACTTCTGT	0.547000													54	90					0	0	1	0	0
GCOM1	145781	broad.mit.edu	37	15	57896515	57896515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:57896515C>T	ENST00000574161.1	+	2	243	c.124C>T	c.(124-126)Cct>Tct	p.P42S	GCOM1_ENST00000380561.2_Missense_Mutation_p.P42S|GCOM1_ENST00000380568.3_Missense_Mutation_p.P42S|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Missense_Mutation_p.P42S|GCOM1_ENST00000587652.1_Missense_Mutation_p.P42S|GCOM1_ENST00000380569.2_Missense_Mutation_p.P42S|MYZAP_ENST00000380565.4_Missense_Mutation_p.P42S|GCOM1_ENST00000572390.1_Missense_Mutation_p.P42S|GCOM1_ENST00000396180.1_Missense_Mutation_p.P42S|GCOM1_ENST00000380560.2_Missense_Mutation_p.P42S	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		42					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GAGTCCAGTTCCTGAGCAATG	0.498000													85	103					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50893737	50893737	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50893737G>A	ENST00000380817.2	-	33	4653	c.4470C>T	c.(4468-4470)ttC>ttT	p.F1490F	SBF1_ENST00000390679.3_Silent_p.F1464F|SBF1_ENST00000348911.6_Silent_p.F1465F	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	1464	Myotubularin phosphatase.				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CACGGTGGCTGAAGCGATGGC	0.642000													28	19					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135429841	135429841	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:135429841G>A	ENST00000394143.1	+	6	4267	c.3976G>A	c.(3976-3978)Gga>Aga	p.G1326R	GPR112_ENST00000287534.4_Missense_Mutation_p.G1263R|GPR112_ENST00000412101.1_Missense_Mutation_p.G1121R|GPR112_ENST00000394141.1_Missense_Mutation_p.G1121R|GPR112_ENST00000370652.1_Missense_Mutation_p.G1326R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1326					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G1326R(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCCTCTGATGGAAATTTGGC	0.438000													44	8					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21752007	21752007	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:21752007C>T	ENST00000382254.1	-	15	3310	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	CDH12_ENST00000504376.2_Missense_Mutation_p.E742K|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Missense_Mutation_p.E702K	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	742					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCACTCCCTTCGTAGGCATAT	0.507000										HNSCC(59;0.17)			132	29					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100696408	100696408	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100696408C>T	ENST00000306151.4	+	10	13309	c.13245C>T	c.(13243-13245)cgC>cgT	p.R4415R		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4415						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCGTTTTCCGCTCCAAGAGAG	0.577000													12	30					0	0	1	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275641	32275641	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:32275641C>T	ENST00000382105.2	+	35	3735	c.3593C>T	c.(3592-3594)tCc>tTc	p.S1198F	DEPDC5_ENST00000266091.3_Silent_p.L1290L|DEPDC5_ENST00000382111.2_Silent_p.L1312L|DEPDC5_ENST00000539165.1_Silent_p.L129L|DEPDC5_ENST00000400249.2_Silent_p.L1281L|DEPDC5_ENST00000400246.1_Silent_p.L1312L|DEPDC5_ENST00000400248.1_Silent_p.L1281L|DEPDC5_ENST00000382112.3_Silent_p.L1303L|DEPDC5_ENST00000535622.1_Silent_p.L1212L			O75140	DEPD5_HUMAN	DEP domain containing 5	0	DEP.				intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CTGCCTTTCTCCTGCCCTGGC	0.582000													17	42					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117681160	117681160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:117681160G>A	ENST00000368508.3	-	23	3658	c.3460C>T	c.(3460-3462)Cct>Tct	p.P1154S	ROS1_ENST00000368507.3_Missense_Mutation_p.P1149S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1154					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGAGGTGAGGAAATGGGTTG	0.348000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								11	8					0	0	1	0	0
MEF2B	100271849	broad.mit.edu	37	19	19257959	19257959	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:19257959C>T	ENST00000602424.2	-	7	1153	c.427G>A	c.(427-429)Gta>Ata	p.V143I	MEF2B_ENST00000410050.1_Missense_Mutation_p.V143I|MEF2B_ENST00000162023.5_Missense_Mutation_p.V143I|MEF2B_ENST00000424583.2_Missense_Mutation_p.V143I|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.V143I|MEF2B_ENST00000409447.2_Missense_Mutation_p.V143I|MEF2B_ENST00000409224.1_Missense_Mutation_p.V146I|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.V160I	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GCCCCGTATACCACATCTGGG	0.652000													3	9					0	0	1	0	0
ZNF239	8187	broad.mit.edu	37	10	44053046	44053046	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:44053046T>A	ENST00000306006.6	-	2	1134	c.482A>T	c.(481-483)aAa>aTa	p.K161I	ZNF239_ENST00000491188.1_5'UTR|ZNF239_ENST00000426961.1_Missense_Mutation_p.K161I|ZNF239_ENST00000374446.2_Missense_Mutation_p.K161I|ZNF239_ENST00000535642.1_Missense_Mutation_p.K161I	NM_005674.2	NP_005665.2	Q16600	ZN239_HUMAN	zinc finger protein 239	161					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CACCTGTGATTTCCATCCATG	0.448000													68	62					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9065944	9065944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9065944C>T	ENST00000397910.4	-	3	21705	c.21502G>A	c.(21502-21504)Gac>Aac	p.D7168N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7170	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						TTTGTGGTGTCCTTGCCAGTG	0.507000													41	50					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78380432	78380432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:78380432G>A	ENST00000278550.7	-	32	7420	c.6958C>T	c.(6958-6960)Ccc>Tcc	p.P2320S		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		ACCTTGGTGGGGTTGGTCAGG	0.592000													64	65					0	0	1	0	0
ZNF28	7576	broad.mit.edu	37	19	53303290	53303290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53303290C>T	ENST00000438150.2	-	2	2542	c.1649G>A	c.(1648-1650)gGa>gAa	p.G550E	ZNF28_ENST00000457749.2_Missense_Mutation_p.G603E|ZNF28_ENST00000414252.2_Missense_Mutation_p.G550E|ZNF28_ENST00000360272.4_Missense_Mutation_p.G550E			P17035	ZNF28_HUMAN	zinc finger protein 28	603					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		AGGTTTCTCTCCAGTATGAAC	0.448000													36	126					0	0	1	0	0
COPZ2	51226	broad.mit.edu	37	17	46110610	46110610	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:46110610G>A	ENST00000006101.4	-	5	320	c.321C>T	c.(319-321)ttC>ttT	p.F107F	COPZ2_ENST00000584666.1_5'UTR	NM_016429.2	NP_057513.1	Q9P299	COPZ2_HUMAN	coatomer protein complex, subunit zeta 2	109					intracellular protein transport|vesicle-mediated transport	cis-Golgi network|COPI vesicle coat				lung(3)|upper_aerodigestive_tract(1)	4						CCACGTATAGGAAGAGGTCAA	0.488000													8	21					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626087	140626087	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140626087C>T	ENST00000231173.3	+	1	941	c.941C>T	c.(940-942)tCg>tTg	p.S314L		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		314	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S314L(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGTCTTCGTATGATCTA	0.403000													68	29					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33991977	33991977	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:33991977C>T	ENST00000389232.4	+	41	6392	c.6322C>T	c.(6322-6324)Cag>Tag	p.Q2108*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.Q2108*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2108	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCGGCAAAATCAGAAGGCCAT	0.448000													21	16					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12844398	12844398	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:12844398G>A	ENST00000379672.5	+	8	908	c.608G>A	c.(607-609)aGt>aAt	p.S203N	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.S203N|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.S203N	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	203	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GATATGTACAGTTTTGTGGCC	0.413000													13	44					0	0	1	0	0
SIGLEC6	946	broad.mit.edu	37	19	52034461	52034461	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52034461C>T	ENST00000346477.3	-	2	448	c.380G>A	c.(379-381)tGg>tAg	p.W127*	SIGLEC6_ENST00000425629.3_Nonsense_Mutation_p.W127*|SIGLEC6_ENST00000343300.4_Nonsense_Mutation_p.W127*|SIGLEC6_ENST00000359982.4_Nonsense_Mutation_p.W127*|SIGLEC6_ENST00000436458.1_Nonsense_Mutation_p.W91*|SIGLEC6_ENST00000391797.3_Nonsense_Mutation_p.W127*	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	127					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.W116*(1)|p.W127*(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTATTTCATCCATTTGGACTT	0.537000													47	69					0	0	1	0	0
TMEM200A	114801	broad.mit.edu	37	6	130762727	130762727	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:130762727C>T	ENST00000392429.1	+	2	3538	c.1160C>T	c.(1159-1161)tCc>tTc	p.S387F	TMEM200A_ENST00000296978.3_Missense_Mutation_p.S387F|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S387F	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	387						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TCCAATACATCCTTGCATTTG	0.527000													15	21					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167653194	167653194	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:167653194A>G	ENST00000519204.1	+	23	4965	c.4847A>G	c.(4846-4848)aAc>aGc	p.N1616S	TENM2_ENST00000520394.1_Missense_Mutation_p.N1498S|TENM2_ENST00000545108.1_Missense_Mutation_p.N1736S|TENM2_ENST00000403607.2_Missense_Mutation_p.N1561S|TENM2_ENST00000518659.1_Missense_Mutation_p.N1737S					teneurin transmembrane protein 2																		GACATTGAGAACTCCAACCGT	0.537000													14	7					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958276	53958276	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53958276C>T	ENST00000454407.1	+	0	968							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CACGATGCTTCCTTGGTTTCA	0.383000													23	81					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177249620	177249620	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177249620C>T	ENST00000361539.4	+	8	1620	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		436						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CTGGCACTTTCCTGGAACAGA	0.577000													29	26					0	0	1	0	0
RFXANK	8625	broad.mit.edu	37	19	19308364	19308364	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:19308364C>T	ENST00000303088.4	+	6	846	c.372C>T	c.(370-372)ggC>ggT	p.G124G	RFXANK_ENST00000353145.1_Silent_p.G101G|RFXANK_ENST00000407360.3_Silent_p.G124G|RFXANK_ENST00000456252.3_Silent_p.G102G|RFXANK_ENST00000392324.4_Silent_p.G101G	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	124						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			ACGAGCGCGGCTTCACCCCCC	0.652000													14	25					0	0	1	0	0
KIN	22944	broad.mit.edu	37	10	7829871	7829871	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:7829871G>A	ENST00000379562.3	-	1	73	c.26C>T	c.(25-27)cCc>cTc	p.P9L	KIN_ENST00000535925.1_Missense_Mutation_p.P9L|KIN_ENST00000543003.1_5'UTR			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	9					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GATAGCCTTGGGAGTAAGAAA	0.612000													54	76					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36422171	36422171	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:36422171G>A	ENST00000273183.3	+	1	336	c.36G>A	c.(34-36)gtG>gtA	p.V12V	STAC_ENST00000457375.2_Silent_p.V12V|STAC_ENST00000476388.1_3'UTR	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	12					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						AGGACGGCGTGGACGGGCTGC	0.701000													6	16					0	0	1	0	0
RIC3	79608	broad.mit.edu	37	11	8148274	8148274	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:8148274C>T	ENST00000396677.2	-	2	115	c.116G>A	c.(115-117)gGa>gAa	p.G39E	RIC3_ENST00000309737.6_Missense_Mutation_p.G201E|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000343202.4_Missense_Mutation_p.G200E|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000539720.1_Missense_Mutation_p.G152E|RIC3_ENST00000335425.7_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	201						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		AATGAATTTTCCTTCTTTCAT	0.433000													21	34					0	0	1	0	0
BMP5	653	broad.mit.edu	37	6	55638936	55638936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55638936C>T	ENST00000370830.3	-	4	1636	c.938G>A	c.(937-939)cGa>cAa	p.R313Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R313Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	313					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTCACGGATCGAAGAAGTAC	0.453000													18	74					0	0	1	0	0
CNOT6L	246175	broad.mit.edu	37	4	78697514	78697514	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:78697514G>A	ENST00000504123.1	-	2	168	c.38C>T	c.(37-39)cCt>cTt	p.P13L	CNOT6L_ENST00000506166.1_5'UTR|CNOT6L_ENST00000264903.4_Missense_Mutation_p.P13L			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	13					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AGGATCTGGAGGATCATATTT	0.358000													27	45					0	0	1	0	0
CST6	1474	broad.mit.edu	37	11	65780337	65780337	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65780337G>A	ENST00000312134.2	+	2	485	c.281G>A	c.(280-282)gGg>gAg	p.G94E		NM_001323.3	NP_001314.1	Q15828	CYTM_HUMAN	cystatin E/M	94					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						ATGGAGATGGGGAGCACAGAC	0.627000													16	32					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35641692	35641692	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:35641692G>A	ENST00000440995.2	+	3	321	c.321G>A	c.(319-321)aaG>aaA	p.K107K	SPEF2_ENST00000282469.6_Silent_p.K107K|SPEF2_ENST00000356031.3_Silent_p.K107K|SPEF2_ENST00000509059.1_Silent_p.K107K			Q9C093	SPEF2_HUMAN	sperm flagellar 2	107					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAGAAAAAGAAGAAAAGTG	0.408000													19	47					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33080581	33080581	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:33080581A>G	ENST00000334274.4	+	6	1115	c.715A>G	c.(715-717)Atg>Gtg	p.M239V	TCP11L1_ENST00000531632.2_Missense_Mutation_p.M239V|TCP11L1_ENST00000324357.9_Missense_Mutation_p.M18V|TCP11L1_ENST00000432887.1_Missense_Mutation_p.M239V	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	239										kidney(1)|liver(2)|lung(2)|skin(1)	6						GCCTCATCTCATGCAGCAGTC	0.378000													34	46					0	0	1	0	0
HSPA13	6782	broad.mit.edu	37	21	15753598	15753598	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:15753598C>T	ENST00000285667.3	-	2	359	c.292G>A	c.(292-294)Gat>Aat	p.D98N	HSPA13_ENST00000478035.1_5'UTR|HSPA13_ENST00000544452.1_5'UTR	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	98						endoplasmic reticulum|microsome	ATP binding	p.D98N(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTTTTGGCATCATATATTGTG	0.368000													12	63					0	0	1	0	0
TRAPPC10	7109	broad.mit.edu	37	21	45518271	45518271	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45518271C>T	ENST00000291574.4	+	21	3377	c.3202C>T	c.(3202-3204)Cct>Tct	p.P1068S		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1068					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GATCTTTCCCCCTTCGGGAAT	0.488000													66	74					0	0	1	0	0
MIR381HG	378881	broad.mit.edu	37	14	101512865	101512865	+	RNA	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:101512865T>C	ENST00000553692.1	+	0	28				MIR487B_ENST00000385021.1_RNA																							CATCCACTTTTTCAGTAtcaa	0.483000													6	36					0	0	1	0	0
WDFY2	115825	broad.mit.edu	37	13	52313275	52313275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:52313275G>A	ENST00000298125.5	+	7	869	c.689G>A	c.(688-690)gGg>gAg	p.G230E		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	230							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GACATCGGTGGGAGAAAAGGA	0.512000													37	23					0	0	1	0	0
OR10J1	26476	broad.mit.edu	37	1	159409735	159409735	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159409735G>A	ENST00000423932.3	+	1	224	c.187G>A	c.(187-189)Gat>Aat	p.D63N	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	63					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CATCCGAATGGATCTTCATCT	0.448000													27	100					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802432	185802432	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:185802432G>A	ENST00000302277.6	+	4	2903	c.2309G>A	c.(2308-2310)cGa>cAa	p.R770Q		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	770						intracellular	zinc ion binding	p.R770Q(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						AGATTCTATCGAAAACGTAGA	0.333000													10	33					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027196	55027196	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:55027196C>T	ENST00000371336.3	+	5	1165	c.964C>T	c.(964-966)Cct>Tct	p.P322S	CASS4_ENST00000360314.3_Missense_Mutation_p.P322S|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	322					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AGGCACATTTCCTTTGGATGA	0.448000													29	53					0	0	1	0	0
RBAK	57786	broad.mit.edu	37	7	5104829	5104829	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:5104829C>T	ENST00000396912.1	+	5	2261	c.1742C>T	c.(1741-1743)tCc>tTc	p.S581F	RBAK_ENST00000407184.1_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.S581F|RBAK_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	581	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		CATAATTCATCCCTCTTCAGA	0.363000													44	23					0	0	1	0	0
SCAF1	58506	broad.mit.edu	37	19	50156268	50156268	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50156268C>T	ENST00000360565.3	+	7	2746	c.2622C>T	c.(2620-2622)tcC>tcT	p.S874S		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	874					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		AGAGTCGCTCCCCCTTCCTCA	0.657000													23	16					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150337310	150337310	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:150337310C>T	ENST00000401000.4	+	1	185	c.120C>T	c.(118-120)tcC>tcT	p.S40S	RPRD2_ENST00000369068.4_Silent_p.S40S|RPRD2_ENST00000369067.3_Silent_p.S40S|RPRD2_ENST00000539519.1_Silent_p.S40S|RPRD2_ENST00000492220.1_Intron			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	40	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CCATGGAGTCCATTCAAGGCT	0.522000													23	29					0	0	1	0	0
KRT86	3892	broad.mit.edu	37	12	52699848	52699848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:52699848C>T	ENST00000293525.5	+	7	1083	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	KRT86_ENST00000544024.1_Missense_Mutation_p.S344F|KRT86_ENST00000423955.2_Missense_Mutation_p.S344F	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	344	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTTCAGAATTCCAAGCTGGAG	0.597000											OREG0021845	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	11					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96963065	96963065	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:96963065G>A	ENST00000389672.5	+	5	1578	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R	EPHA6_ENST00000470610.2_Missense_Mutation_p.G514R	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	419	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGCAATGAATGGAGTTTCTGA	0.433000													27	66					0	0	1	0	0
TAS2R50	259296	broad.mit.edu	37	12	11139091	11139091	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11139091C>T	ENST00000506868.1	-	1	420	c.369G>A	c.(367-369)agG>agA	p.R123R	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176890.2	NP_795371.2	P59544	T2R50_HUMAN	taste receptor, type 2, member 50	123					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)	17						TCCTAACTCTCCTCTTTAAAT	0.398000													78	101					0	0	1	0	0
CLEC16A	23274	broad.mit.edu	37	16	11038592	11038592	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:11038592G>A	ENST00000409790.1	+	1	248	c.18G>A	c.(16-18)cgG>cgA	p.R6R	CLEC16A_ENST00000409552.3_Silent_p.R6R	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	6										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCGCTCGCGGAGCTGGGTGG	0.701000													9	9					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13400058	13400058	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:13400058G>A	ENST00000284110.1	-	2	1474	c.677C>T	c.(676-678)cCc>cTc	p.P226L	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.P24L	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	226						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GATGCGCGCGGGGGCCTCCCG	0.622000													16	113					0	0	1	0	0
FAM131C	348487	broad.mit.edu	37	1	16388684	16388684	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:16388684A>C	ENST00000375662.4	-	4	361	c.178T>G	c.(178-180)Tgc>Ggc	p.C60G	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	60										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GTCTGGAAGCACCTCTGGAGG	0.662000													25	8					0	0	1	0	0
CENPO	79172	broad.mit.edu	37	2	25016342	25016342	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:25016342G>A	ENST00000260662.1	+	0	10				CENPO_ENST00000473706.1_De_novo_Start_InFrame|CENPO_ENST00000380834.2_De_novo_Start_InFrame	NM_024322.2	NP_077298.1	Q9BU64	CENPO_HUMAN	centromere protein O						cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TGAAGACGTGGATGGCGGGAA	0.617000													10	57					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181702850	181702850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181702850G>A	ENST00000526775.1	+	20	3334	c.3169G>A	c.(3169-3171)Gac>Aac	p.D1057N	CACNA1E_ENST00000367567.4_Missense_Mutation_p.D683N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1076N|CACNA1E_ENST00000367573.2_Missense_Mutation_p.D1076N|CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1027N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1057N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1008N	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1076					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGCCATCCCCGACGTGGACCC	0.657000													8	39					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130594	153130594	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:153130594G>A	ENST00000370060.1	-	22	3010	c.2821C>T	c.(2821-2823)Cca>Tca	p.P941S	L1CAM_ENST00000370057.3_Missense_Mutation_p.P941S|L1CAM_ENST00000543994.1_Missense_Mutation_p.P943S|L1CAM_ENST00000370055.1_Missense_Mutation_p.P936S|L1CAM_ENST00000538883.1_Missense_Mutation_p.P943S|L1CAM_ENST00000361699.4_Missense_Mutation_p.P941S|L1CAM_ENST00000361981.3_Missense_Mutation_p.P936S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	941	Fibronectin type-III 4.		Missing (in HSAS).|P -> L (in HSAS and MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCTGAGTGGGGGCTGCCAG	0.701000													11	7					0	0	1	0	0
SPATA2	9825	broad.mit.edu	37	20	48522672	48522672	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:48522672C>T	ENST00000422556.1	-	3	1396	c.1047G>A	c.(1045-1047)cgG>cgA	p.R349R	SPATA2_ENST00000543716.1_Silent_p.R212R|SPATA2_ENST00000289431.5_Silent_p.R349R	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	349					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			GAGCATCCTGCCGACGGTAGG	0.637000													25	117					0	0	1	0	0
AIMP1	9255	broad.mit.edu	37	4	107258161	107258161	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:107258161C>T	ENST00000394701.4	+	6	852	c.811C>T	c.(811-813)Cct>Tct	p.P271S	AIMP1_ENST00000442366.1_Missense_Mutation_p.P247S|AIMP1_ENST00000358008.3_Missense_Mutation_p.P247S	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	247					angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						TGGGTCTGTTCCTGGAGACAG	0.383000													51	84					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51980459	51980459	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:51980459G>A	ENST00000220478.3	+	5	803	c.400G>A	c.(400-402)Gat>Aat	p.D134N	SCG3_ENST00000542355.2_5'UTR	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	134					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		CTGTCTAGATGATCCAGATGG	0.388000													9	28					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75210084	75210084	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:75210084C>T	ENST00000413679.2	+	17	2430	c.2127C>T	c.(2125-2127)tcC>tcT	p.S709S	SEC14L1_ENST00000436233.4_Silent_p.S709S|SEC14L1_ENST00000585618.1_Silent_p.S709S|SEC14L1_ENST00000591437.1_Silent_p.S675S|SEC14L1_ENST00000430767.4_Silent_p.S709S|SEC14L1_ENST00000392476.2_Silent_p.S709S|SEC14L1_ENST00000431431.2_Silent_p.S675S|SEC14L1_ENST00000443798.4_Silent_p.S709S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470.1|NP_001137471.1|NP_002994.3	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	709					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AGTCCCACTCCAGCTCCATGA	0.672000													34	58					0	0	1	0	0
RASSF7	8045	broad.mit.edu	37	11	562279	562279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:562279C>T	ENST00000397583.3	+	3	758	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	RASSF7_ENST00000344375.4_Missense_Mutation_p.R109C|RASSF7_ENST00000431809.1_Missense_Mutation_p.R109C|RASSF7_ENST00000454668.2_Missense_Mutation_p.R109C|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000397582.3_Missense_Mutation_p.R109C	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	109					regulation of transcription, DNA-dependent|signal transduction	nucleus	DNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGCCTAATTCGTGCCAGCCT	0.672000													8	29					0	0	1	0	0
OR1J2	26740	broad.mit.edu	37	9	125273161	125273161	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:125273161C>T	ENST00000335302.5	+	1	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AGGCTGTGTTCTTCACCCTGT	0.592000													46	61					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86468442	86468442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86468442G>A	ENST00000361669.2	+	4	2711	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	GRM3_ENST00000536043.1_Missense_Mutation_p.E410K|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.E130K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	538					synaptic transmission	integral to plasma membrane		p.E538K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGAACCCTACGAATACCTGGC	0.532000													102	102					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24579086	24579086	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:24579086G>A	ENST00000358321.3	+	2	399	c.138G>A	c.(136-138)ccG>ccA	p.P46P		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	46	SMB.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CCTGCCACCCGACGTGCTCTG	0.632000													50	269					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494591	55494591	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55494591T>C	ENST00000543010.1	+	6	1668	c.1525T>C	c.(1525-1527)Ttt>Ctt	p.F509L	NLRP2_ENST00000537859.1_Missense_Mutation_p.F487L|NLRP2_ENST00000448584.2_Missense_Mutation_p.F509L|NLRP2_ENST00000538819.1_Missense_Mutation_p.F485L|NLRP2_ENST00000391721.4_Missense_Mutation_p.F485L|NLRP2_ENST00000427260.2_Missense_Mutation_p.F486L|NLRP2_ENST00000263437.6_Missense_Mutation_p.F506L|NLRP2_ENST00000339757.7_Missense_Mutation_p.F487L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	509	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTTCCAGCAGTTTCTCACTGC	0.582000													35	47					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87285767	87285767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:87285767C>T	ENST00000304053.6	+	2	587	c.104C>T	c.(103-105)tCc>tTc	p.S35F	NTRK2_ENST00000376214.1_Missense_Mutation_p.S35F|NTRK2_ENST00000277120.3_Missense_Mutation_p.S35F|NTRK2_ENST00000376208.1_Missense_Mutation_p.S35F|NTRK2_ENST00000376213.1_Missense_Mutation_p.S35F|NTRK2_ENST00000395882.1_Missense_Mutation_p.S35F|NTRK2_ENST00000323115.4_Missense_Mutation_p.S35F|NTRK2_ENST00000359847.3_Missense_Mutation_p.S35F	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	35	LRRNT.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TGTCCCACGTCCTGCAAATGC	0.602000										TSP Lung(25;0.17)			19	31					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36093595	36093595	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:36093595C>T	ENST00000303965.4	-	28	4822	c.4333G>A	c.(4333-4335)Gaa>Aaa	p.E1445K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1445	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GATGGTTCTTCTTTGATTTTC	0.353000													24	36					0	0	1	0	0
HMGCS2	3158	broad.mit.edu	37	1	120306940	120306940	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:120306940G>A	ENST00000369406.3	-	2	463	c.414C>T	c.(412-414)tcC>tcT	p.S138S	HMGCS2_ENST00000544913.2_Silent_p.S138S|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	138					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGACAGCTTTGGACTTGTCAA	0.527000													147	617					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43821160	43821160	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43821160G>A	ENST00000382031.1	+	5	8234	c.8203G>A	c.(8203-8205)Gag>Aag	p.E2735K	MAP1A_ENST00000399453.1_Missense_Mutation_p.E2497K|MAP1A_ENST00000300231.5_Missense_Mutation_p.E2497K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2497						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGTGACTGATGAGACACCCCC	0.617000													47	69					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35745584	35745584	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:35745584G>A	ENST00000400445.3	+	26	4952	c.4418G>A	c.(4417-4419)aGa>aAa	p.R1473K	NBEA_ENST00000379939.2_Missense_Mutation_p.R1470K|NBEA_ENST00000310336.4_Missense_Mutation_p.R1473K|NBEA_ENST00000540320.1_Missense_Mutation_p.R1473K	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1473						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGTGCCTAAGATTAGGTAAG	0.333000													29	68					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163292020	163292020	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:163292020C>T	ENST00000332142.5	-	8	1741	c.1642G>A	c.(1642-1644)Ggc>Agc	p.G548S	KCNH7_ENST00000328032.4_Missense_Mutation_p.G541S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	548					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)	ACAGCAGCGCCATATTCTGAA	0.458000													14	32					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49830143	49830143	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:49830143C>T	ENST00000527477.1	+	0	1474																											GAGCTCAGTGCAGGGCCCATC	0.468000													8	17					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42361005	42361005	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:42361005G>A	ENST00000298119.4	+	4	3127	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	646						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AGAAAAGAAAGACTGGCACAA	0.458000										HNSCC(30;0.082)			9	21					0	0	1	0	0
DENND2A	27147	broad.mit.edu	37	7	140301675	140301675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:140301675C>T	ENST00000275884.6	-	2	940	c.523G>A	c.(523-525)Gca>Aca	p.A175T	DENND2A_ENST00000492720.1_Missense_Mutation_p.A175T|DENND2A_ENST00000537639.1_Missense_Mutation_p.A175T|DENND2A_ENST00000496613.1_Missense_Mutation_p.A175T			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	175										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TCCAGCCCTGCCGACCCATCC	0.597000													25	31					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131812690	131812690	+	Silent	SNP	G	G	A	rs142352284		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:131812690G>A	ENST00000286355.5	-	15	5134	c.3042C>T	c.(3040-3042)atC>atT	p.I1014I	ADCY8_ENST00000377928.3_Silent_p.I883I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1014					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AGTCAGCAATGATCTCATTGA	0.428000										HNSCC(32;0.087)			28	69					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119345519	119345519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:119345519C>T	ENST00000338891.7	-	2	1062	c.619G>A	c.(619-621)Gat>Aat	p.D207N	FAM184A_ENST00000368475.4_Missense_Mutation_p.D87N|FAM184A_ENST00000352896.5_Missense_Mutation_p.D87N|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000521531.1_Missense_Mutation_p.D207N|FAM184A_ENST00000522284.1_Missense_Mutation_p.D87N	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	207										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GCACTGTGATCCTGCTGTGAC	0.443000													21	25					0	0	1	0	0
TYK2	7297	broad.mit.edu	37	19	10473091	10473091	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10473091G>A	ENST00000525621.1	-	11	1999	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	TYK2_ENST00000529370.1_Silent_p.P506P|TYK2_ENST00000524462.1_Silent_p.P321P|TYK2_ENST00000264818.6_Silent_p.P506P	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	506	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GCTGCTCAATGGGGAACTTTC	0.667000													8	7					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136150	55136150	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55136150C>T	ENST00000314706.3	+	1	791	c.791C>T	c.(790-792)gCt>gTt	p.A264V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAACGAAAAGCTTTCTACACC	0.433000													55	78					0	0	1	0	0
CCDC109B	55013	broad.mit.edu	37	4	110605797	110605797	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:110605797C>T	ENST00000394650.4	+	6	944	c.811C>T	c.(811-813)Cga>Tga	p.R271*		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	271						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TATAGTCACTCGACAGGTGAG	0.368000													30	38					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33565765	33565765	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:33565765C>T	ENST00000321505.4	+	1	1945	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P589S|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P589S					KIAA1549-like																		TGCTTCCACACCATTCCAGAA	0.463000													20	83					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179504809	179504809	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179504809G>A	ENST00000589042.1	-	222	40976	c.40752C>T	c.(40750-40752)ctC>ctT	p.L13584L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.L11016L|TTN_ENST00000460472.2_Silent_p.L4519L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.L4644L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Silent_p.L4711L|TTN-AS1_ENST00000418062.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Silent_p.L11943L|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11943	Ig-like 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L11016L(2)|p.L4644L(1)|p.L4519L(1)|p.L4711L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTGCAGGGAGAGGTATTG	0.388000													26	74					0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11785885	11785885	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:11785885C>G	ENST00000356957.3	-	9	1349	c.1242G>C	c.(1240-1242)gaG>gaC	p.E414D	TXNDC11_ENST00000283033.5_Missense_Mutation_p.E387D			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	414					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAGGAGACGCTCCACCACCT	0.612000													10	19					0	0	1	0	0
C6orf165	154313	broad.mit.edu	37	6	88173757	88173757	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:88173757T>C	ENST00000507897.1	+	13	1741	c.1658T>C	c.(1657-1659)gTt>gCt	p.V553A	C6ORF165_ENST00000369562.4_Missense_Mutation_p.V553A|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	553										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		CGCCAGAAAGTTACTCACTCA	0.368000													7	10					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479941	4479941	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:4479941G>A	ENST00000237837.1	-	3	469	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	108					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F108F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617000													24	73					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128092	83128092	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:83128092C>T	ENST00000329312.4	+	4	413	c.376C>T	c.(376-378)Cct>Tct	p.P126S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	126					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGGAGGAACACCTTTGAAGAA	0.358000													5	3					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256583	63256583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:63256583C>T	ENST00000323865.3	-	1	1197	c.964G>A	c.(964-966)Gag>Aag	p.E322K	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	322					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTTTTCCTCTCGAAAGAGGCG	0.617000													25	27					0	0	1	0	0
TROAP	10024	broad.mit.edu	37	12	49724857	49724857	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49724857C>T	ENST00000551245.1	+	13	2340	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000547923.1_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	0					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GCCTGGCTCTCCCTCAGGAAG	0.607000													3	9					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160277270	160277270	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:160277270C>T	ENST00000264431.4	+	23	4853	c.4434C>T	c.(4432-4434)ctC>ctT	p.L1478L		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1478					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ACCCGCGCCTCGCCCCCTATC	0.532000													12	43					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059369	9059369	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9059369C>T	ENST00000397910.4	-	3	28280	c.28077G>A	c.(28075-28077)agG>agA	p.R9359R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9361	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGATTCTTTCCTTGTGAGGG	0.517000													32	90					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36222831	36222831	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36222831C>T	ENST00000222270.7	+	27	5460	c.5460C>T	c.(5458-5460)ccC>ccT	p.P1820P	WBP7_ENST00000420124.1_Silent_p.P1820P|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1																					GTGAGGACCCCCCACTGGACA	0.622000													16	20					0	0	1	0	0
NEK8	284086	broad.mit.edu	37	17	27068554	27068554	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:27068554C>T	ENST00000268766.6	+	14	2049	c.2015C>T	c.(2014-2016)tCc>tTc	p.S672F	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	672						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					ACTTCCGTGTCCTGTTGCCAT	0.587000													18	94					0	0	1	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189734	58189734	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58189734G>A	ENST00000318203.5	+	5	1460	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	255					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAGATCTCAGGAAGGGTCCAT	0.507000													33	26					0	0	1	0	0
BRINP2	57795	broad.mit.edu	37	1	177225162	177225162	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:177225162G>A	ENST00000361539.4	+	3	689	c.377G>A	c.(376-378)gGa>gAa	p.G126E		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		126						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CGCCTCCTTGGAAGGAGACCC	0.468000											OREG0014006	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	70					0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50187175	50187175	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50187175C>T	ENST00000335999.6	-	10	3501	c.3300G>A	c.(3298-3300)gaG>gaA	p.E1100E		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	1096	Pro-rich.							p.E691E(1)|p.E1100E(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCAGGCTGTCCTCCGAGGGCA	0.662000													26	61					0	0	1	0	0
VSTM4	196740	broad.mit.edu	37	10	50256622	50256622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:50256622C>T	ENST00000332853.3	-	6	699	c.676G>A	c.(676-678)Gag>Aag	p.E226K		NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	226						integral to membrane|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						GTGACAGTCTCCCCTGAGCTG	0.483000													7	28					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23768866	23768866	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23768866G>A	ENST00000300113.2	+	7	976	c.553G>A	c.(553-555)Gac>Aac	p.D185N		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	185	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		AGAGAAGATGGACGTTGAGCA	0.517000													25	75					0	0	1	0	0
PLCB3	5331	broad.mit.edu	37	11	64030187	64030187	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:64030187C>T	ENST00000540288.1	+	19	2365	c.2262C>T	c.(2260-2262)ctC>ctT	p.L754L	PLCB3_ENST00000279230.6_Silent_p.L754L|PLCB3_ENST00000325234.5_Silent_p.L687L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	754	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGTTTGGCCTCCCTGTTGATA	0.627000													29	99					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16271479	16271479	+	Missense_Mutation	SNP	C	C	T	rs72653794		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:16271479C>T	ENST00000205557.7	-	19	2449	c.2420G>A	c.(2419-2421)cGg>cAg	p.R807Q		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	807	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CACGAGAATCCGTGTCTGGGC	0.562000													20	36					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69324055	69324055	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:69324055G>A	ENST00000260364.5	+	5	770	c.469G>A	c.(469-471)Gaa>Aaa	p.E157K	NOX5_ENST00000455873.3_Missense_Mutation_p.E140K|NOX5_ENST00000530406.2_Missense_Mutation_p.E147K|NOX5_ENST00000388866.3_Missense_Mutation_p.E175K|NOX5_ENST00000448182.3_Missense_Mutation_p.E129K			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	175	N-terminal regulatory region; interacts with the C-terminal catalytic region in a calcium-dependent manner.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GGCGCTCTTCGAATCGGCCGA	0.652000													11	23					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144946528	144946528	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144946528C>T	ENST00000525985.1	-	2	965	c.894G>A	c.(892-894)aaG>aaA	p.K298K				P58107	EPIPL_HUMAN	epiplakin 1	298						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AAAAGCTCTTCTTGTGGCCTT	0.687000													19	75					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7730139	7730139	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:7730139C>T	ENST00000507866.2	+	22	3041	c.2932C>T	c.(2932-2934)Cct>Tct	p.P978S	SORCS2_ENST00000329016.9_Missense_Mutation_p.P806S	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	978						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CCCCAACACCCCTGAGTGGAG	0.592000													8	9					0	0	1	0	0
WFDC6	140870	broad.mit.edu	37	20	44163098	44163098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:44163098C>T	ENST00000600168.1	-	4	529	c.442G>A	c.(442-444)Gat>Aat	p.D148N	WFDC6_ENST00000372670.3_3'UTR					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				TGAGCCAAATCCTGGAGGTTA	0.488000													20	86					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61009067	61009067	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:61009067C>T	ENST00000238714.3	+	11	1203	c.954C>T	c.(952-954)gcC>gcT	p.A318A	PAPOLG_ENST00000483370.1_3'UTR	NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	318					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TCACCCCTGCCTACCCACAAC	0.393000													21	100					0	0	1	0	0
EPN2	22905	broad.mit.edu	37	17	19215451	19215451	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:19215451G>A	ENST00000314728.5	+	6	1450	c.966G>A	c.(964-966)aaG>aaA	p.K322K	EPN2_ENST00000575595.1_Silent_p.K37K|EPN2_ENST00000347697.2_Silent_p.K265K|EPN2_ENST00000395618.3_Silent_p.K37K|EPN2_ENST00000395626.1_Silent_p.K322K|EPN2_ENST00000395620.2_Silent_p.K265K|EPN2_ENST00000571254.1_Silent_p.K265K	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	322					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					TTCCAAAAAAGAAAGAGGTAA	0.507000													34	61					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176525627	176525627	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176525627C>T	ENST00000367662.3	+	2	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.R57*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	57					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GGCCAAGGTTCGAAGACCCAG	0.567000													116	104					0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20559469	20559469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20559469C>T	ENST00000329697.6	-	8	1181	c.1013G>A	c.(1012-1014)gGg>gAg	p.G338E	ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000567001.1_Missense_Mutation_p.G338E|ACSM2B_ENST00000565232.1_Missense_Mutation_p.G338E|ACSM2B_ENST00000565322.1_Missense_Mutation_p.G259E	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	338					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGGGACTCCCCTCCAGCGAG	0.527000													45	105					0	0	1	0	0
PKP2	5318	broad.mit.edu	37	12	32974395	32974395	+	Silent	SNP	G	G	A	rs138495471		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32974395G>A	ENST00000340811.4	-	9	2016	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S	PKP2_ENST00000070846.6_Silent_p.S680S	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	680					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TTATAACAATGGAATGCCACA	0.507000													19	45					0	0	1	0	0
ACACA	31	broad.mit.edu	37	17	35640208	35640208	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:35640208G>A	ENST00000353139.5	-	5	1051	c.570C>T	c.(568-570)ttC>ttT	p.F190F	ACACA_ENST00000335166.5_Silent_p.F75F|ACACA_ENST00000360679.3_Silent_p.F95F|ACACA_ENST00000394406.2_Silent_p.F153F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	153	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATGACAACGAATCTAATTG	0.413000													21	31					0	0	1	0	0
APOC1	341	broad.mit.edu	37	19	45422464	45422464	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45422464G>A	ENST00000588750.1	+	5	554	c.229G>A	c.(229-231)Gag>Aag	p.E77K	APOC1_ENST00000592885.1_Missense_Mutation_p.G125E|APOC1_ENST00000588802.1_Missense_Mutation_p.E77K|APOC1_ENST00000586638.1_Missense_Mutation_p.G88E|APOC1_ENST00000589781.1_3'UTR|APOC1_ENST00000252491.4_Missense_Mutation_p.E77K			P02654	APOC1_HUMAN	apolipoprotein C-I	77					cholesterol efflux|chylomicron remnant clearance|high-density lipoprotein particle remodeling|lipoprotein metabolic process|negative regulation of cholesterol transport|negative regulation of fatty acid biosynthetic process|negative regulation of lipoprotein lipase activity|negative regulation of phosphatidylcholine catabolic process|negative regulation of receptor-mediated endocytosis|negative regulation of very-low-density lipoprotein particle clearance|phospholipid efflux|positive regulation of cholesterol esterification|very-low-density lipoprotein particle assembly|very-low-density lipoprotein particle clearance	chylomicron|endoplasmic reticulum|high-density lipoprotein particle|very-low-density lipoprotein particle	fatty acid binding|phosphatidylcholine binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipase inhibitor activity			cervix(1)|large_intestine(1)|lung(2)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)		GAAAGTGAAGGAGAAACTCAA	0.542000													164	220					0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	84117513	84117513	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:84117513G>A	ENST00000369705.3	-	2	302	c.186C>T	c.(184-186)ttC>ttT	p.F62F	ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	62					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TCAGATGCTCGAAATTTTTTA	0.383000													24	28					0	0	1	0	0
TAOK2	9344	broad.mit.edu	37	16	29994070	29994070	+	Missense_Mutation	SNP	C	C	T	rs141012429		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:29994070C>T	ENST00000308893.4	+	11	1890	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	TAOK2_ENST00000279394.3_Missense_Mutation_p.R283W|TAOK2_ENST00000543033.1_Missense_Mutation_p.R283W|TAOK2_ENST00000416441.2_Missense_Mutation_p.R110W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	283					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CTTTGTGCTCCGGGAGCGGCC	0.622000													31	31					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109623478	109623478	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109623478C>T	ENST00000338432.7	+	12	2032	c.1913C>T	c.(1912-1914)cCc>cTc	p.P638L	ACACB_ENST00000377854.5_Missense_Mutation_p.P638L|ACACB_ENST00000377848.3_Missense_Mutation_p.P638L			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	638	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTTGAAACCCCCTCAAACCCT	0.572000													9	44					0	0	1	0	0
P2RY10	27334	broad.mit.edu	37	X	78217036	78217036	+	Nonstop_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:78217036A>T	ENST00000171757.2	+	4	1299	c.1019A>T	c.(1018-1020)tAa>tTa	p.*340L	P2RY10_ENST00000544091.1_Nonstop_Mutation_p.*340L	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	0						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						ATGATTGGCTAAAATTAAGAT	0.413000													45	3					0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5557717	5557717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:5557717G>A	ENST00000397747.3	+	5	979	c.731G>A	c.(730-732)aGa>aAa	p.R244K	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.R154K	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	244					immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		ATAGCCCTAAGAAAACAACTC	0.448000													24	37					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141796141	141796141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141796141G>A	ENST00000475668.2	+	65	7672	c.7618G>A	c.(7618-7620)Gac>Aac	p.D2540N	MGAM_ENST00000549489.2_Missense_Mutation_p.D1644N			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1644					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTTTGTGTCAGACCAGGTGAC	0.577000													17	11					0	0	1	0	0
SYT13	57586	broad.mit.edu	37	11	45275930	45275930	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:45275930C>T	ENST00000020926.3	-	3	546	c.435G>A	c.(433-435)atG>atA	p.M145I	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	145						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						TCCAGGTCTCCATGACACAGA	0.512000													16	29					0	0	1	0	0
LY75	4065	broad.mit.edu	37	2	160676372	160676372	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:160676372T>C	ENST00000263636.4	-	29	4045	c.4018A>G	c.(4018-4020)Aga>Gga	p.R1340G	LY75_ENST00000554112.1_Missense_Mutation_p.R1340G|LY75_ENST00000553424.1_Missense_Mutation_p.R1340G|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1340G|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1340G	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATAGTTGGTCTTCCTGCTCTC	0.343000													20	43					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79434659	79434659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:79434659C>T	ENST00000554719.1	+	11	2484	c.1993C>T	c.(1993-1995)Cgg>Tgg	p.R665W	NRXN3_ENST00000335750.5_Missense_Mutation_p.R665W	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane		p.R665W(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGCTCTTCATCGGAGCGGACA	0.527000													24	39					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891395	44891395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44891395G>A	ENST00000330997.4	-	4	1076	c.1012C>T	c.(1012-1014)Cac>Tac	p.H338Y	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.H345Y|ZNF285_ENST00000544719.2_Missense_Mutation_p.H338Y	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCCCCTGTGTGGACTCGATGA	0.473000													11	80					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62758790	62758790	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62758790C>T	ENST00000400873.3	-	0	1155					NR_026899.1																						TTTCGGTGCTCAACCGTGAAA	0.363000													5	14					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61833787	61833787	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61833787C>T	ENST00000280772.1	-	37	7043	c.6852G>A	c.(6850-6852)cgG>cgA	p.R2284R	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2284					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGAAGGATCCCGCCCGGACT	0.493000													81	43					0	0	1	0	0
TRMT10C	54931	broad.mit.edu	37	3	101284528	101284528	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101284528C>T	ENST00000309922.6	+	2	1057	c.903C>T	c.(901-903)ttC>ttT	p.F301F		NM_017819.2	NP_060289.2			tRNA methyltransferase 10 homolog C (S. cerevisiae)																		TGACTACTTTCAGGCATGACA	0.378000													11	35					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228547871	228547871	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228547871G>A	ENST00000284548.11	+	81	19352	c.19278G>A	c.(19276-19278)gaG>gaA	p.E6426E	OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Silent_p.E3545E|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000422127.1_Intron			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	0	Ig-like 54.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCATGGAGGAGGCGGGAGAGG	0.637000													29	20					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392009	178392009	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:178392009G>A	ENST00000320129.3	+	5	907	c.604G>A	c.(604-606)Gaa>Aaa	p.E202K	ZNF454_ENST00000519564.1_Missense_Mutation_p.E202K	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AATTCATAATGAAAAAAATGC	0.348000													23	20					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134151925	134151925	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134151925C>T	ENST00000389887.5	+	5	2934	c.438C>T	c.(436-438)ttC>ttT	p.F146F	GLB1L3_ENST00000431683.2_Silent_p.F146F			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	146					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTAGGGCCTTCGTCCTGATGG	0.672000													4	9					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121631883	121631883	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121631883C>T	ENST00000489711.1	+	5	832	c.444C>T	c.(442-444)atC>atT	p.I148I	SLC15A2_ENST00000295605.2_Silent_p.I117I	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	148					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TATCATTGATCGGCCTGAGTC	0.448000													124	218					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175907	71175907	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:71175907C>T	ENST00000333538.5	+	10	2296	c.1662C>T	c.(1660-1662)ttC>ttT	p.F554F	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	554	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTGGAACTTCATCCAGGTGA	0.607000													9	34					0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124646631	124646631	+	Missense_Mutation	SNP	G	G	A	rs148320577		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124646631G>A	ENST00000311075.3	-	2	297	c.259C>T	c.(259-261)Ccc>Tcc	p.P87S		NM_033049.3	NP_149038.3	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	87	Thr-rich.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTAATTATGGGGGGAGCAGGT	0.438000													51	175					0	0	1	0	0
RXFP4	339403	broad.mit.edu	37	1	155911667	155911667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155911667G>A	ENST00000368318.3	+	1	188	c.167G>A	c.(166-168)gGa>gAa	p.G56E		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	56						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCTTGCTGGGAAATTTGGCG	0.597000													47	70					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55223849	55223849	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55223849G>A	ENST00000340465.2	+	6	951	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	289						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTCCTTCAAGTGCAATGTAC	0.413000													56	44					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117559820	117559820	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:117559820G>A	ENST00000256652.4	+	5	1395	c.1337G>A	c.(1336-1338)aGc>aAc	p.S446N	CD101_ENST00000369470.1_Missense_Mutation_p.S446N	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	446	Ig-like C2-type 4.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGTCTGTGAGCTGGTGGCAC	0.577000													52	30					0	0	1	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004517	75004517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:75004517G>A	ENST00000373359.2	-	1	562	c.370C>T	c.(370-372)Cag>Tag	p.Q124*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	124	MAGE 1.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCAGGGAACTGATCTGAGTAC	0.493000													6	5					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644594	169644594	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169644594C>T	ENST00000428432.2	+	6	933	c.544C>T	c.(544-546)Cgt>Tgt	p.R182C	SAMD7_ENST00000335556.3_Missense_Mutation_p.R182C	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	182										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCAGAGATGTCGTCGACTCAG	0.483000													12	63					0	0	1	0	0
SLC2A10	81031	broad.mit.edu	37	20	45354767	45354767	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:45354767G>A	ENST00000359271.2	+	2	1342	c.1092G>A	c.(1090-1092)agG>agA	p.R364R		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	364						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				AGGACCAAAGGGAGCCAATCT	0.622000													27	43					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132552948	132552948	+	Silent	SNP	G	G	A	rs111394662		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:132552948G>A	ENST00000265342.7	-	13	1830	c.1581C>T	c.(1579-1581)gtC>gtT	p.V527V	CTB-49A3.2_ENST00000502776.1_RNA|CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	527						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTGGATGTCGACCACAAGGA	0.502000													62	31					0	0	1	0	0
GLTSCR1	29998	broad.mit.edu	37	19	48198219	48198219	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:48198219C>T	ENST00000396720.3	+	9	3152	c.2958C>T	c.(2956-2958)tcC>tcT	p.S986S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	986							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CGCAGACCTCCACCAGCCTGG	0.721000													10	4					0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100171	66100171	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66100171G>A	ENST00000311320.4	-	10	2054	c.1928C>T	c.(1927-1929)aCc>aTc	p.T643I	RIN1_ENST00000530056.1_Missense_Mutation_p.T477I|RIN1_ENST00000524804.1_5'UTR|RIN1_ENST00000424433.2_Missense_Mutation_p.T538I	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	643	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACGGCCAGGGTCTTGGAGGT	0.592000													32	82					0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	74973893	74973893	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74973893C>T	ENST00000261978.4	-	26	4282	c.3896G>A	c.(3895-3897)gGa>gAa	p.G1299E	LTBP2_ENST00000556690.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1299	Cys-rich.|EGF-like 14; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AATGCAGTCTCCGTTCGGGGC	0.547000													42	36					0	0	1	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083417	107083417	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:107083417C>T	ENST00000455737.1	-	0	226																											CACTCCAGTCCCTTCCCTGGG	0.547000													53	79					0	0	1	0	0
C9orf43	257169	broad.mit.edu	37	9	116184837	116184837	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:116184837G>A	ENST00000288462.4	+	6	901	c.455G>A	c.(454-456)gGg>gAg	p.G152E	C9orf43_ENST00000374165.1_Missense_Mutation_p.G152E	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	152										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						AGCCAGCATGGGAAGAAGAAA	0.353000													14	8					0	0	1	0	0
KIR2DL3	3804	broad.mit.edu	37	19	55263828	55263828	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55263828G>A	ENST00000342376.3	+	8	914	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GGACTCTGATGAACAAGACCC	0.527000													62	61					0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42219036	42219036	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42219036C>T	ENST00000221992.6	+	3	685	c.571C>T	c.(571-573)Ctg>Ttg	p.L191L	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.L191L|CEACAM5_ENST00000398599.4_Silent_p.L191L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	191	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CAGTCCCAGGCTGCAGCTGTC	0.532000													65	99					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46823779	46823779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46823779C>T	ENST00000339613.2	+	9	1192	c.937C>T	c.(937-939)Ccc>Tcc	p.P313S	HIF3A_ENST00000472815.1_Missense_Mutation_p.P300S|HIF3A_ENST00000420102.2_Missense_Mutation_p.P318S|HIF3A_ENST00000377670.4_Missense_Mutation_p.P369S|HIF3A_ENST00000244303.6_Missense_Mutation_p.P300S|AC007193.10_ENST00000596807.1_RNA|HIF3A_ENST00000600383.1_Missense_Mutation_p.P300S|HIF3A_ENST00000300862.3_Missense_Mutation_p.P367S			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCGGGGCGCCCCCTCTCAGAA	0.652000													37	56					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73070995	73070995	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:73070995C>T	ENST00000429829.1	-	0	1593					NR_001564.2																						CAGCACTGTCCATCCCACCTT	0.502000													120	12					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14880876	14880876	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:14880876C>T	ENST00000403951.2	-	2	432	c.13G>A	c.(13-15)Gaa>Aaa	p.E5K	DGKB_ENST00000407950.1_Missense_Mutation_p.E5K|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000406247.3_Missense_Mutation_p.E5K|DGKB_ENST00000399322.3_Missense_Mutation_p.E5K|DGKB_ENST00000444700.2_Missense_Mutation_p.E5K|DGKB_ENST00000258767.5_Missense_Mutation_p.E5K|DGKB_ENST00000402815.1_Missense_Mutation_p.E5K			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	5					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GCCCATTTTTCCTGGTTTGTC	0.403000													31	11					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942740	10942740	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:10942740C>T	ENST00000298232.7	-	12	1014	c.647G>A	c.(646-648)gGa>gAa	p.G216E	TPTE_ENST00000342420.5_Missense_Mutation_p.G196E|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.G234E	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	234					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGGTCAAATCCATCCCTTGT	0.318000													21	338					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11633061	11633061	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:11633061G>A	ENST00000423059.3	-	3	1342	c.1091C>T	c.(1090-1092)tCc>tTc	p.S364F		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	364	TSP type-1 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGACCACTCGGAAACCTGGCA	0.493000										HNSCC(18;0.044)			16	120					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81207605	81207605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:81207605G>A	ENST00000312465.7	+	3	812	c.586G>A	c.(586-588)Gga>Aga	p.G196R	FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	196					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GAATAAAAGAGGAAAAGCCAA	0.468000													74	58					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36597316	36597316	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:36597316A>G	ENST00000299440.5	+	2	2574	c.2462A>G	c.(2461-2463)aAt>aGt	p.N821S		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	821					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTGTATAAGAATCCCAATGCT	0.468000									Familial Hemophagocytic Lymphohistiocytosis				34	42					0	0	1	0	0
ZNF285	26974	broad.mit.edu	37	19	44891924	44891924	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44891924G>A	ENST00000330997.4	-	4	547	c.483C>T	c.(481-483)aaC>aaT	p.N161N	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Silent_p.N168N|ZNF285_ENST00000544719.2_Silent_p.N161N	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TTCCCTGAGAGTTCTGGGGCT	0.448000													24	69					0	0	1	0	0
LRMP	4033	broad.mit.edu	37	12	25242563	25242563	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:25242563C>T	ENST00000354454.3	+	11	1218	c.389C>T	c.(388-390)cCt>cTt	p.P130L	LRMP_ENST00000548766.1_Missense_Mutation_p.P130L|LRMP_ENST00000547044.1_Missense_Mutation_p.P130L	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	186					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					GTGGTTTCCCCTCTTCCTGTA	0.318000													11	11					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062910	9062910	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062910G>A	ENST00000397910.4	-	3	24739	c.24536C>T	c.(24535-24537)tCc>tTc	p.S8179F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8181	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGTTTCTGTGGAAGTCTCTGG	0.507000													17	49					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542915	14542915	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:14542915C>T	ENST00000358970.5	-	1	230	c.231G>A	c.(229-231)acG>acA	p.T77T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	77								p.T77T(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCACGTTGCTCGTGCCGCTCC	0.577000													17	259					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158262476	158262476	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:158262476C>T	ENST00000296526.7	+	12	2230	c.1905C>T	c.(1903-1905)tcC>tcT	p.S635S	GRIA2_ENST00000507898.1_Silent_p.S588S|GRIA2_ENST00000264426.9_Silent_p.S635S|GRIA2_ENST00000393815.2_Silent_p.S588S|GRIA2_ENST00000449365.1_Silent_p.S588S	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	635					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TCATAATCTCCTCCTACACGG	0.433000													81	83					0	0	1	0	0
LGALS4	3960	broad.mit.edu	37	19	39303084	39303084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39303084C>T	ENST00000307751.4	-	2	598	c.121G>A	c.(121-123)Gag>Aag	p.E41K	LGALS4_ENST00000597803.1_5'UTR	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	41	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			TTCATGTGCTCGCTGGCCACT	0.627000													11	59					0	0	1	0	0
KIAA0408	9729	broad.mit.edu	37	6	127765408	127765408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:127765408G>A	ENST00000483725.3	-	6	2267	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	644							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCCATGTGAGGCGTTCACTGA	0.488000													20	26					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37118348	37118348	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:37118348G>A	ENST00000435416.1	+	3	3041	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K	ZNF382_ENST00000439428.1_Missense_Mutation_p.E516K|ZNF382_ENST00000292928.2_Missense_Mutation_p.E517K|ZNF382_ENST00000423582.1_Missense_Mutation_p.E468K			Q96SR6	ZN382_HUMAN	zinc finger protein 382	517	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TCACACAGGCGAGAAACCATA	0.423000													16	37					0	0	1	0	0
LMOD1	25802	broad.mit.edu	37	1	201869436	201869436	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201869436C>T	ENST00000367288.4	-	2	951	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	235	8 X approximate tandem repeats.				muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCTTCTCACCCTCTTTTCTGG	0.463000													7	18					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176640217	176640217	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176640217C>T	ENST00000367662.3	+	4	3267	c.2103C>T	c.(2101-2103)acC>acT	p.T701T	PAPPA2_ENST00000367661.3_Silent_p.T701T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	701	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGCTGCCACCTGGCCTTGGG	0.512000													45	153					0	0	1	0	0
NPY2R	4887	broad.mit.edu	37	4	156135713	156135713	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:156135713C>T	ENST00000329476.3	+	2	1111	c.622C>T	c.(622-624)Cct>Tct	p.P208S	NPY2R_ENST00000506608.1_Missense_Mutation_p.P208S	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	208					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGAAAAGTGGCCTGGCGAGGA	0.488000													98	88					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152279796	152279796	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152279796T>C	ENST00000368799.1	-	3	7601	c.7566A>G	c.(7564-7566)caA>caG	p.Q2522Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2522	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCTCCTGATTGTTCATCGT	0.587000									Ichthyosis				279	251					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672472	186672472	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:186672472G>A	ENST00000343098.5	+	17	18706	c.18706G>A	c.(18706-18708)Gaa>Aaa	p.E6236K	FSIP2_ENST00000424728.1_Missense_Mutation_p.E6147K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGTGGAAGTTGAAAACATCGT	0.393000													16	30					0	0	1	0	0
NAALAD2	10003	broad.mit.edu	37	11	89883650	89883650	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:89883650G>A	ENST00000534061.1	+	5	714	c.483_splice	c.e5-1	p.G162_splice	NAALAD2_ENST00000525171.1_Splice_Site_p.G162_splice|NAALAD2_ENST00000321955.4_Splice_Site_p.G162_splice|NAALAD2_ENST00000375944.3_Splice_Site_p.G162_splice	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	162					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTCCCTATAGGGAGATCTTGT	0.303000													8	15					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611306	17611306	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:17611306G>A	ENST00000252595.7	+	9	1433	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K	SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598424.1_Missense_Mutation_p.E267K|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E446K	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	446	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CTCCCTAGGGGAGCCTGGCCT	0.677000													8	8					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19261652	19261652	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:19261652G>A	ENST00000328041.6	+	2	389	c.192G>A	c.(190-192)gcG>gcA	p.A64A	RP5-1027G4.3_ENST00000319682.2_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	64						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGATGATGGCGAGGAAGCTGA	0.522000													20	15					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104987692	104987692	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:104987692G>A	ENST00000507740.1	+	13	2497	c.2261G>A	c.(2260-2262)gGa>gAa	p.G754E	RIMS2_ENST00000436393.2_Missense_Mutation_p.G740E|RIMS2_ENST00000406091.3_Missense_Mutation_p.G962E|RIMS2_ENST00000262231.10_Missense_Mutation_p.G801E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1024	PDZ.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GATGTTATAGGAAGGACTAGA	0.433000										HNSCC(12;0.0054)			23	6					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228884529	228884529	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:228884529G>A	ENST00000392056.3	-	7	1087	c.1041C>T	c.(1039-1041)tcC>tcT	p.S347S	SPHKAP_ENST00000344657.5_Silent_p.S347S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	347						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)		TATCCATCATGGAGAAATAAG	0.423000													14	44					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27700155	27700155	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:27700155G>A	ENST00000260570.3	-	13	1357	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	IFT172_ENST00000359466.6_Silent_p.T418T|IFT172_ENST00000416524.2_Silent_p.T397T	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	418					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ATTCCACCAGGGTTAGCTCTC	0.463000													30	214					0	0	1	0	0
CARD14	79092	broad.mit.edu	37	17	78169111	78169111	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:78169111G>A	ENST00000573882.1	+	12	2014	c.1478G>A	c.(1477-1479)gGg>gAg	p.G493E	CARD14_ENST00000570421.1_Missense_Mutation_p.G493E|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.G256E|CARD14_ENST00000344227.2_Missense_Mutation_p.G493E			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	493					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAGGACTTCGGGGAAGAACCC	0.652000													5	26					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489632	233489632	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233489632G>A	ENST00000366624.3	+	3	1327	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	MLK4_ENST00000366623.3_Missense_Mutation_p.V356I	NM_032435.2	NP_115811.2																					GGCTTATGGGGTAGCAGTCAA	0.517000													15	95					0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47428008	47428008	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:47428008C>T	ENST00000295454.3	+	9	1690	c.1398C>T	c.(1396-1398)gtC>gtT	p.V466V	GABRB1_ENST00000538619.1_Silent_p.V396V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	466					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTTTAATGTCGTCTATTGGC	0.418000													12	45					0	0	1	0	0
RTDR1	27156	broad.mit.edu	37	22	23404098	23404098	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:23404098C>T	ENST00000216036.4	-	6	875	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	227							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		AAATGACACACCTGTTTCTTG	0.582000													14	24					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24846501	24846501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:24846501C>T	ENST00000313367.2	-	21	2789	c.2338G>A	c.(2338-2340)Gag>Aag	p.E780K	OSBPL3_ENST00000487020.1_Intron|OSBPL3_ENST00000431825.2_Missense_Mutation_p.E713K|OSBPL3_ENST00000396431.1_Missense_Mutation_p.E749K|OSBPL3_ENST00000409069.1_Missense_Mutation_p.E713K|OSBPL3_ENST00000396429.1_Missense_Mutation_p.E744K|OSBPL3_ENST00000353930.1_Missense_Mutation_p.E744K|OSBPL3_ENST00000352860.1_Missense_Mutation_p.E749K	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	780					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TAGTATTGCTCGTAGCCTTTC	0.378000													11	144					0	0	1	0	0
MRGPRX3	117195	broad.mit.edu	37	11	18159579	18159579	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:18159579C>T	ENST00000396275.2	+	3	1191	c.830C>T	c.(829-831)tCc>tTc	p.S277F		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	277						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCGTGGGCTCCTTTAGGCAG	0.507000													14	52					0	0	1	0	0
ADGRG6	57211	broad.mit.edu	37	6	142630688	142630688	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:142630688C>T	ENST00000230173.6	+	2	486	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C	GPR126_ENST00000545477.1_3'UTR|GPR126_ENST00000367608.2_Missense_Mutation_p.R4C|GPR126_ENST00000367609.3_Missense_Mutation_p.R4C|GPR126_ENST00000296932.8_Missense_Mutation_p.R4C	NM_020455.5	NP_065188.4	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		CAGGATGTTTCGCTCAGATCG	0.398000													8	6					0	0	1	0	0
RP11-50E11.3	0	broad.mit.edu	37	10	52389385	52389385	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:52389385C>T	ENST00000443374.1	+	0	78																											TTCAGTTGTTCCCCCAAGCTC	0.532000													7	31					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513717	165513717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:165513717G>A	ENST00000294818.1	+	1	474	c.184G>A	c.(184-186)Gag>Aag	p.E62K	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	62						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GTTCCTGAACGAGAACAGAAT	0.473000													115	108					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247040	56247040	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56247040G>A	ENST00000545221.1	+	1	24	c.24G>A	c.(22-24)tgG>tgA	p.W8*		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACCTCACGTGGGTATCAGACT	0.473000													31	102					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36758297	36758297	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:36758297C>T	ENST00000354618.5	+	7	2241	c.2017C>T	c.(2017-2019)Cca>Tca	p.P673S	THRAP3_ENST00000466743.1_3'UTR|THRAP3_ENST00000469141.2_Missense_Mutation_p.P673S	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	673					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAAGAAAAGCCCAGAGATACA	0.408000			T	USP6	aneurysmal bone cysts								28	42					0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201060904	201060904	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:201060904C>T	ENST00000362061.3	-	5	784	c.558G>A	c.(556-558)ctG>ctA	p.L186L	CACNA1S_ENST00000367338.3_Silent_p.L186L	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	186					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGATGGAGTTCAGGACCACCT	0.572000													18	12					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130927194	130927194	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130927194C>T	ENST00000261655.4	-	8	815	c.652G>A	c.(652-654)Gat>Aat	p.D218N	RIMBP2_ENST00000536002.1_Missense_Mutation_p.D126N|RIMBP2_ENST00000535703.1_Missense_Mutation_p.D126N	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	218	SH3 1.					cell junction|synapse		p.D218N(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTCTGGCCATCGAGGAGCTCT	0.612000													18	16					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80749524	80749524	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:80749524G>A	ENST00000458043.2	+	46	5581	c.5575G>A	c.(5575-5577)Gat>Aat	p.D1859N	OTOGL_ENST00000547103.1_Missense_Mutation_p.D1847N	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AGCATGCACTGATAGTGAAGA	0.423000													29	28					0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247328	56247328	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:56247328C>T	ENST00000545221.1	+	1	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCTTCTTCTTCCACTTTTTGG	0.517000													68	63					0	0	1	0	0
MYL1	4632	broad.mit.edu	37	2	211179661	211179661	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:211179661C>T	ENST00000352451.3	-	1	253	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	36					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TCAATTTTTTCTTCTTTGGGT	0.512000													44	121					0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492157	42492157	+	Silent	SNP	G	G	A	rs142806181	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42492157G>A	ENST00000545399.1	-	4	480	c.327C>T	c.(325-327)atC>atT	p.I109I	ATP1A3_ENST00000543770.1_Silent_p.I107I|ATP1A3_ENST00000602133.1_Silent_p.I66I|ATP1A3_ENST00000302102.5_Silent_p.I96I	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	96					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GGATAGCCCCGATCCACAGCA	0.652000													29	91					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33058209	33058209	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:33058209C>T	ENST00000307363.5	-	14	1615	c.1471G>A	c.(1471-1473)Gat>Aat	p.D491N	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.D539N|GLB1_ENST00000399402.3_Missense_Mutation_p.D461N|GLB1_ENST00000307377.8_Missense_Mutation_p.D360N	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	491			D -> N (in GM1G1).|D -> Y (in GM1G1).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ACCTTAAAATCGTTGATATAT	0.448000													53	107					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41062138	41062138	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41062138G>A	ENST00000352632.3	+	25	5319	c.5233G>A	c.(5233-5235)Gag>Aag	p.E1745K	SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1745K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1745K|SPTBN4_ENST00000392025.1_Missense_Mutation_p.E488K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1745K|SPTBN4_ENST00000392023.1_Missense_Mutation_p.E421K			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1745					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGATTGCCGAGAAGGAGGT	0.587000													34	31					0	0	1	0	0
BCRP7	100133163	broad.mit.edu	37	22	18846126	18846126	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18846126G>A	ENST00000412938.1	+	0	3484																											ACTGGCGCACGATGTAGGGCA	0.617000													28	42					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75347738	75347738	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:75347738G>A	ENST00000305249.4	-	2	1311	c.546C>T	c.(544-546)atC>atT	p.I182I	TACR1_ENST00000497764.1_5'UTR|TACR1_ENST00000409848.3_Silent_p.I182I	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	182					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	CTGGCCATTCGATCATGCACA	0.547000													27	107					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87591016	87591016	+	Silent	SNP	C	C	T	rs142347723		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:87591016C>T	ENST00000320005.5	-	17	2051	c.2004G>A	c.(2002-2004)ccG>ccA	p.P668P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	668					signal transduction|visual perception	integral to membrane	cGMP binding	p.P668P(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCTCTTCTTTCGGTGGGAAGA	0.473000													39	65					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25817909	25817909	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:25817909G>A	ENST00000374343.4	+	10	1805	c.1626G>A	c.(1624-1626)cgG>cgA	p.R542R	TMEM57_ENST00000399763.3_Silent_p.R184R|TMEM57_ENST00000399766.3_Silent_p.R315R	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	542						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGGAGCTTCGGAAATATAAGG	0.398000													11	28					0	0	1	0	0
RPN2	6185	broad.mit.edu	37	20	35854136	35854136	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:35854136C>T	ENST00000237530.6	+	11	1541	c.1230C>T	c.(1228-1230)agC>agT	p.S410S	RPN2_ENST00000373622.5_Silent_p.S378S	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	410					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TCGCAGACAGCCACCAGAACT	0.488000													21	34					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542485	179542485	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179542485A>G	ENST00000589042.1	-	146	34378	c.34154T>C	c.(34153-34155)cTa>cCa	p.L11385P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L10141P|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L11068P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11068	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)			TTCTTCAGGTAGAACTTCCTC	0.423000													53	49					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43813932	43813932	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43813932C>A	ENST00000382031.1	+	5	1006	c.975C>A	c.(973-975)ctC>ctA	p.L325L	MAP1A_ENST00000399453.1_Silent_p.L87L|MAP1A_ENST00000300231.5_Silent_p.L87L			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	87	Lys-rich (basic).					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CGGTGCTACTCACACACATTG	0.542000													44	61					9.84934e-19	9.96232e-19	1	1	0
RNF20	56254	broad.mit.edu	37	9	104303238	104303238	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:104303238C>T	ENST00000389120.3	+	5	699	c.609C>T	c.(607-609)tcC>tcT	p.S203S		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	203					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		AGCTCTTATCCCGGAAGCTAA	0.488000													23	4					0	0	1	0	0
OR10G7	390265	broad.mit.edu	37	11	123909299	123909299	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123909299C>T	ENST00000330487.5	-	1	418	c.410G>A	c.(409-411)gGg>gAg	p.G137E		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ACACGAGCGCCCAGTCATCAT	0.567000													38	60					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103141269	103141269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:103141269C>T	ENST00000428762.1	-	53	8749	c.8590G>A	c.(8590-8592)Gga>Aga	p.G2864R	RELN_ENST00000343529.5_Missense_Mutation_p.G2864R|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.G2864R	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2864	EGF-like 7.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGCAATCTCCATGGCCCCTG	0.507000													80	85					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42414941	42414941	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:42414941C>T	ENST00000381668.5	-	37	3718	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E1148K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1163					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATCACCATTCGTCGGGCCTC	0.483000													5	5					0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169227849	169227849	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:169227849T>A	ENST00000393743.3	-	5	578	c.287A>T	c.(286-288)aAc>aTc	p.N96I		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	96							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TTCAGGGAAGTTGAAATACGC	0.348000													26	35					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95384481	95384481	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95384481G>A	ENST00000336148.5	-	15	2774	c.2650C>T	c.(2650-2652)Ctt>Ttt	p.L884F	RAD54B_ENST00000519348.1_5'UTR	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	231					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GGATCTGTAAGATTTAAATGA	0.363000								Direct reversal of damage;Homologous recombination					12	24					0	0	1	0	0
STRADB	55437	broad.mit.edu	37	2	202344248	202344248	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:202344248C>A	ENST00000194530.3	+	11	1472	c.1107C>A	c.(1105-1107)ttC>ttA	p.F369L	STRADB_ENST00000392249.2_Missense_Mutation_p.F369L	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	369	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						ATGTTTTCTTCAAACAGGTGA	0.303000													7	24					1.76689e-08	1.77599e-08	1	1	0
OAS3	4940	broad.mit.edu	37	12	113400489	113400489	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113400489C>T	ENST00000228928.7	+	9	2045	c.1866C>T	c.(1864-1866)gcC>gcT	p.A622A	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	622	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						AAGGACCAGCCCCTGCCTCTC	0.562000													23	114					0	0	1	0	0
USP42	84132	broad.mit.edu	37	7	6196598	6196598	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6196598G>A	ENST00000306177.5	+	16	4013	c.3855G>A	c.(3853-3855)ctG>ctA	p.L1285L		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1285					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GCCCGCCTCTGGAAGGCGTCG	0.557000													16	45					0	0	1	0	0
KLRD1	3824	broad.mit.edu	37	12	10462062	10462062	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10462062G>A	ENST00000381908.3	+	2	343	c.83G>A	c.(82-84)gGa>gAa	p.G28E	KLRD1_ENST00000381907.4_Missense_Mutation_p.G28E|KLRD1_ENST00000350274.5_Intron|KLRD1_ENST00000336164.4_Missense_Mutation_p.G28E|KLRD1_ENST00000543777.1_Missense_Mutation_p.G28E|KLRD1_ENST00000543420.1_Missense_Mutation_p.G28E|KLRD1_ENST00000538997.1_Intron			Q13241	KLRD1_HUMAN	killer cell lectin-like receptor subfamily D, member 1	28					cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity	p.G28E(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TCTACGTTGGGAATTTTGTTG	0.348000													16	57					0	0	1	0	0
OTX2	5015	broad.mit.edu	37	14	57268715	57268715	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:57268715G>A	ENST00000339475.5	-	5	908	c.632C>T	c.(631-633)tCa>tTa	p.S211L	OTX2_ENST00000408990.3_Missense_Mutation_p.S203L|OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.S203L	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	203					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GGTCAAATATGATCCACAGTC	0.527000													29	24					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196519	55196519	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:55196519G>A	ENST00000340465.2	+	2	115	c.29G>A	c.(28-30)gGg>gAg	p.G10E		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	10						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAAGCTATGGGGTTAAGCTTG	0.323000													8	28					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37618501	37618501	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:37618501C>T	ENST00000337995.3	+	5	823	c.608C>T	c.(607-609)gCc>gTc	p.A203V	ZNF585A_ENST00000588723.1_Intron|ZNF420_ENST00000304239.7_Missense_Mutation_p.A203V	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	203					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAGGCCTTTACTCAA	0.398000													13	20					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409093	56409093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:56409093C>T	ENST00000544374.1	-	1	854	c.826G>A	c.(826-828)Gag>Aag	p.E276K	OR5AP2_ENST00000302981.1_Missense_Mutation_p.E275K			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGTCTTGCTCCATTGAGTAG	0.408000													27	43					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50453675	50453675	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:50453675C>T	ENST00000228468.4	+	3	881	c.496C>T	c.(496-498)Cga>Tga	p.R166*	ASIC1_ENST00000447966.2_Nonsense_Mutation_p.R166*	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	166					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCACGACATTCGAGACATGCT	0.582000													30	33					0	0	1	0	0
OAS2	4939	broad.mit.edu	37	12	113445716	113445716	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:113445716G>A	ENST00000392583.2	+	9	2070	c.1863G>A	c.(1861-1863)agG>agA	p.R621R	OAS2_ENST00000342315.4_Silent_p.R621R|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	621	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGACCGTGAGGAAGTTTCTAC	0.488000													42	140					0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232073	132232073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:132232073C>T	ENST00000265343.5	-	11	2628	c.2249G>A	c.(2248-2250)aGa>aAa	p.R750K	AFF4_ENST00000378595.3_Missense_Mutation_p.R750K	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	750					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGAGCCTCTCTCGTGTGCTT	0.408000													78	30					0	0	1	0	0
TAS2R39	259285	broad.mit.edu	37	7	142880788	142880788	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142880788G>A	ENST00000446620.1	+	1	277	c.277G>A	c.(277-279)Gaa>Aaa	p.E93K		NM_176881.2	NP_795362.2	P59534	T2R39_HUMAN	taste receptor, type 2, member 39	93					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					CATGATGTTAGAAATTACCAT	0.378000													55	72					0	0	1	0	0
RGS1	5996	broad.mit.edu	37	1	192547539	192547539	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:192547539C>T	ENST00000469578.2	+	4	488	c.468C>T	c.(466-468)atC>atT	p.I156I	RGS1_ENST00000367459.3_Intron			Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	0	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				TTATCATCATCAGTTTCTCCA	0.313000													19	52					0	0	1	0	0
LILRA4	23547	broad.mit.edu	37	19	54848860	54848860	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54848860G>A	ENST00000291759.4	-	5	819	c.763C>T	c.(763-765)Ctg>Ttg	p.L255L		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	255	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TCCTTGTACAGAGTGTATCTG	0.662000													13	19					0	0	1	0	0
C4orf45	152940	broad.mit.edu	37	4	159836327	159836327	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:159836327C>T	ENST00000434826.2	-	4	625	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	181										large_intestine(2)|lung(3)	5						CATACCTTTTCCTTTTTTGGT	0.373000													16	10					0	0	1	0	0
MAP3K1	4214	broad.mit.edu	37	5	56178417	56178417	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:56178417C>T	ENST00000399503.3	+	14	3390	c.3390C>T	c.(3388-3390)tcC>tcT	p.S1130S		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1130					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGCTCAACTCCAGTATTGAGG	0.423000													20	21					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39442147	39442147	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:39442147C>T	ENST00000265707.5	+	1	51	c.6C>T	c.(4-6)ttC>ttT	p.F2F	ADAM18_ENST00000379866.1_Silent_p.F2F|ADAM18_ENST00000520772.1_Silent_p.F2F|ADAM18_ENST00000541111.1_5'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	2					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GAGCCATGTTCCTTCTCCTCG	0.627000													12	59					0	0	1	0	0
ACOT1	641371	broad.mit.edu	37	14	74004356	74004356	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:74004356C>T	ENST00000311148.4	+	1	539	c.231C>T	c.(229-231)ccC>ccT	p.P77P	ACOT1_ENST00000557556.1_Silent_p.P77P|HEATR4_ENST00000553558.1_Intron|HEATR4_ENST00000560393.1_Intron|HEATR4_ENST00000334988.2_Intron	NM_001037161.1	NP_001032238.1			acyl-CoA thioesterase 1											endometrium(1)|large_intestine(1)|lung(2)	4				OV - Ovarian serous cystadenocarcinoma(108;1.37e-45)|BRCA - Breast invasive adenocarcinoma(234;0.0033)		GGCTTGAGCCCATGGGGCTGC	0.716000													6	28					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149489749	149489749	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:149489749G>A	ENST00000378016.2	+	0	5805							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTCCTTCCGGAGCTCCAACA	0.692000													15	34					0	0	1	0	0
SYT1	6857	broad.mit.edu	37	12	79685898	79685898	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:79685898C>T	ENST00000261205.4	+	6	1119	c.462C>T	c.(460-462)ttC>ttT	p.F154F	SYT1_ENST00000393240.3_Silent_p.F154F|SYT1_ENST00000457153.2_Silent_p.F151F|SYT1_ENST00000552744.1_Silent_p.F154F	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	154	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATTATGATTTCCAAAATAACC	0.343000													22	23					0	0	1	0	0
TRAV17	28666	broad.mit.edu	37	14	22466140	22466140	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22466140G>A	ENST00000390445.2	+	0	217																											CAGTCAACAGGGAGAAGAGGA	0.428000													7	35					0	0	1	0	0
CALML5	51806	broad.mit.edu	37	10	5541215	5541215	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:5541215C>T	ENST00000380332.3	-	1	318	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	63	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AAGCTGATTTCGCCGTCGCCG	0.672000													39	38					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20216075	20216075	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:20216075G>A	ENST00000418063.2	+	3	288	c.176G>A	c.(175-177)gGa>gAa	p.G59E	ZNF90_ENST00000474284.1_3'UTR	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	59	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						CTGGAGCAAGGAAAAAAACCC	0.398000													13	36					0	0	1	0	0
OR8D1	283159	broad.mit.edu	37	11	124180576	124180576	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:124180576G>A	ENST00000357821.2	-	1	157	c.87C>T	c.(85-87)ctC>ctT	p.L29L		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		CCAGGAACAGGAGGAAGAGGG	0.478000													33	12					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814320	106814320	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:106814320G>A	ENST00000407775.2	+	8	2260	c.2010G>A	c.(2008-2010)gtG>gtA	p.V670V	ZFPM2_ENST00000517361.1_Silent_p.V538V|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Silent_p.V401V|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.V538V|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	670					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CTGTTGATGTGAAAAATCCCA	0.443000													7	20					0	0	1	0	0
UBE2NL	389898	broad.mit.edu	37	X	142967434	142967434	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:142967434C>T	ENST00000370494.1	+	1	262	c.232C>T	c.(232-234)Cat>Tat	p.H78Y		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	78							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CAAAATTTATCATCCAAATGT	0.428000													58	4					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412130	81412130	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:81412130C>T	ENST00000430430.1	+	3	2153	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	ZBTB10_ENST00000426744.2_Silent_p.F458F|ZBTB10_ENST00000455036.3_Silent_p.F458F|ZBTB10_ENST00000379091.4_Silent_p.F166F	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	458					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GCCGAAATTTCATTAAAGATG	0.373000													23	42					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372970	24372970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:24372970G>A	ENST00000005284.3	+	4	1936	c.734G>A	c.(733-735)cGa>cAa	p.R245Q		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	245					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CCCAGATCCCGAGACCTGTCC	0.582000													15	30					0	0	1	0	0
OR2T1	26696	broad.mit.edu	37	1	248570147	248570147	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248570147G>A	ENST00000366474.1	+	1	852	c.852G>A	c.(850-852)agG>agA	p.R284R		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGAGGGCAGGAAGAAGGCAT	0.507000													10	88					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37438752	37438752	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:37438752G>A	ENST00000374660.1	+	11	1551	c.1452G>A	c.(1450-1452)ttG>ttA	p.L484L	ANKRD30A_ENST00000602533.1_Silent_p.L484L|ANKRD30A_ENST00000361713.1_Silent_p.L484L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	540						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCTTTGAATTGAAGAATGAAC	0.313000													31	48					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941395	38941395	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:38941395G>A	ENST00000302328.3	-	13	2210	c.2012C>T	c.(2011-2013)tCc>tTc	p.S671F	SCN11A_ENST00000456224.3_Missense_Mutation_p.S671F|SCN11A_ENST00000450244.1_Missense_Mutation_p.S671F|SCN11A_ENST00000444237.2_Missense_Mutation_p.S671F	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	671					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CACTCTGAAGGAACGCAAGAA	0.413000													6	20					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76528619	76528619	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76528619C>T	ENST00000389840.5	-	20	3183	c.3059G>A	c.(3058-3060)tGg>tAg	p.W1020*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W1017*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GTCATCTGTCCAGGTGTCCAA	0.552000													6	14					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35835204	35835204	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:35835204C>T	ENST00000187397.4	+	20	2649	c.2193C>T	c.(2191-2193)acC>acT	p.T731T	ARPP21_ENST00000337271.5_Silent_p.T712T|ARPP21_ENST00000444190.1_Silent_p.T712T|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000458225.1_Silent_p.T732T|ARPP21_ENST00000417925.1_Silent_p.T732T	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	731	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TGCCAATGACCCAGGGTTCTC	0.458000													17	56					0	0	1	0	0
CBLC	23624	broad.mit.edu	37	19	45281486	45281486	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45281486C>T	ENST00000270279.3	+	1	361	c.298C>T	c.(298-300)Ccc>Tcc	p.P100S	CBLC_ENST00000341505.4_Missense_Mutation_p.P100S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	100	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				GCTGCTGCCTCCCCGGGGCCG	0.692000			M		AML								46	125					0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169578921	169578921	+	Missense_Mutation	SNP	G	G	A	rs3917742	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169578921G>A	ENST00000263686.6	-	8	1191	c.1154C>T	c.(1153-1155)tCg>tTg	p.S385L	SELP_ENST00000367788.2_Missense_Mutation_p.S323L|SELP_ENST00000367794.2_Missense_Mutation_p.S323L|SELP_ENST00000367792.2_Missense_Mutation_p.S323L|SELP_ENST00000367791.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.S323L|SELP_ENST00000367793.2_Missense_Mutation_p.S323L|SELP_ENST00000367786.2_Missense_Mutation_p.S323L	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	385	Sushi 4.		S -> L (in dbSNP:rs3917742).		platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CGGCTCACACGAAATAGCTAA	0.478000													22	24					0	0	1	0	0
APLP1	333	broad.mit.edu	37	19	36362577	36362577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36362577C>T	ENST00000221891.4	+	5	793	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W	APLP1_ENST00000537454.2_Missense_Mutation_p.R162W|APLP1_ENST00000586861.1_Missense_Mutation_p.R195W	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	201					apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCTCGGATCGGTTCCGTGG	0.642000													15	63					0	0	1	0	0
SV2A	9900	broad.mit.edu	37	1	149882500	149882500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:149882500G>A	ENST00000369146.3	-	4	1323	c.833C>T	c.(832-834)tCc>tTc	p.S278F	SV2A_ENST00000369145.1_Missense_Mutation_p.S278F	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	278					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGAGAAATAGGAGAAGACAAT	0.522000													10	49					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1544401	1544401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1544401C>T	ENST00000345913.4	+	16	2745	c.2654C>T	c.(2653-2655)tCg>tTg	p.S885L	TPO_ENST00000337415.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.S712L|TPO_ENST00000382201.3_Missense_Mutation_p.S828L|TPO_ENST00000349624.3_Missense_Mutation_p.S712L|TPO_ENST00000346956.3_Missense_Mutation_p.S841L|TPO_ENST00000329066.4_Missense_Mutation_p.S885L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	885					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTGCCCATCTCGGAGACAGGC	0.642000													54	74					0	0	1	0	0
OR52A5	390054	broad.mit.edu	37	11	5153503	5153503	+	Missense_Mutation	SNP	G	G	A	rs143161168		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5153503G>A	ENST00000307388.1	-	1	369	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCCACATAGCGATCCAGGGCC	0.468000													18	23					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48389863	48389863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48389863C>T	ENST00000224600.4	-	1	1128	c.1015G>A	c.(1015-1017)Gac>Aac	p.D339N		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	339	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GTGTAGTAGTCCTTCAGGACC	0.642000													17	31					0	0	1	0	0
CHFR	55743	broad.mit.edu	37	12	133434031	133434031	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:133434031G>A	ENST00000266880.7	-	9	1125	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	CHFR_ENST00000432561.2_Silent_p.I354I|CHFR_ENST00000541837.2_5'UTR|CHFR_ENST00000450056.2_Silent_p.I342I|CHFR_ENST00000315585.7_Silent_p.I313I|CHFR_ENST00000443047.2_Silent_p.I262I			Q96EP1	CHFR_HUMAN	checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase	354					cell division|mitosis|mitotic cell cycle checkpoint|modification-dependent protein catabolic process|protein polyubiquitination	PML body	nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00552)|all_epithelial(31;0.226)		OV - Ovarian serous cystadenocarcinoma(86;2.59e-08)|Epithelial(86;6.38e-07)|all cancers(50;1.56e-05)		GGTTGTTGAGGATGTGGTTTT	0.622000													30	34					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902232	51902232	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51902232G>A	ENST00000268919.4	+	1	1994	c.1838G>A	c.(1837-1839)gGg>gAg	p.G613E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	613					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAATTTCAGGGAAGGGATCT	0.423000													34	67					0	0	1	0	0
PROS1	5627	broad.mit.edu	37	3	93598108	93598108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:93598108G>A	ENST00000394236.3	-	13	1859	c.1543C>T	c.(1543-1545)Cgt>Tgt	p.R515C	PROS1_ENST00000407433.1_Missense_Mutation_p.R384C	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	515	Laminin G-like 2.		R -> C (in PROS1D; secretion of the mutant markedly decreased compared with that of the wild-type; intracellular degradation and impaired secretion of the mutant).|R -> P (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTGGATGGACGAATATTCAAG	0.433000													31	78					0	0	1	0	0
LAMB1	3912	broad.mit.edu	37	7	107576049	107576049	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:107576049C>T	ENST00000393561.1	-	25	4255	c.4071G>A	c.(4069-4071)gaG>gaA	p.E1357E	LAMB1_ENST00000474380.1_5'UTR|LAMB1_ENST00000222399.6_Silent_p.E1333E			P07942	LAMB1_HUMAN	laminin, beta 1	1333	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATTCACCCTCTCCTCTGCCT	0.498000													22	97					0	0	1	0	0
ALDH2	217	broad.mit.edu	37	12	112230430	112230430	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:112230430C>T	ENST00000261733.2	+	9	988	c.927C>T	c.(925-927)ttC>ttT	p.F309F	ALDH2_ENST00000416293.3_Silent_p.F262F	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	309					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AGGCCCACTTCGCCCTGTTCT	0.647000			T	HMGA2	leiomyoma								5	11					0	0	1	0	0
CD109	135228	broad.mit.edu	37	6	74440165	74440165	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74440165G>A	ENST00000437994.2	+	4	806	c.375G>A	c.(373-375)gaG>gaA	p.E125E	CD109_ENST00000287097.5_Silent_p.E125E|CD109_ENST00000422508.2_Intron	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	125						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATCATTTGAGACCAAGAGAA	0.403000													16	47					0	0	1	0	0
IGSF9B	22997	broad.mit.edu	37	11	133790959	133790959	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:133790959G>A	ENST00000321016.8	-	18	2891	c.2661C>T	c.(2659-2661)ccC>ccT	p.P887P	IGSF9B_ENST00000533871.2_Silent_p.P887P			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	887						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGCGGAACTCGGGGTACATGT	0.652000													29	40					0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124395546	124395546	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:124395546C>T	ENST00000368909.3	+	50	6307	c.6201C>T	c.(6199-6201)ttC>ttT	p.F2067F	DMBT1_ENST00000368956.2_Silent_p.F1439F|DMBT1_ENST00000330163.4_Silent_p.F1439F|DMBT1_ENST00000338354.3_Silent_p.F2067F|DMBT1_ENST00000344338.3_Silent_p.F2057F|DMBT1_ENST00000368955.3_Silent_p.F2057F|DMBT1_ENST00000359586.6_Silent_p.F787F	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2067	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTGAAGTTTTCGATGGCCCCT	0.502000													13	36					0	0	1	0	0
FCRL1	115350	broad.mit.edu	37	1	157771797	157771797	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:157771797G>A	ENST00000358292.3	-	5	845	c.794C>T	c.(793-795)tCc>tTc	p.S265F	FCRL1_ENST00000368176.3_Missense_Mutation_p.S265F|FCRL1_ENST00000491942.1_Missense_Mutation_p.S265F|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	265	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCAGTCAGGGAAAGGTTGAA	0.567000													14	152					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100331064	100331064	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:100331064G>A	ENST00000341853.1	-	0	3127					NR_003260.1																						TCTCCCAGAGGGGGCGGCCCC	0.507000													27	39					0	0	1	0	0
KCTD21	283219	broad.mit.edu	37	11	77885238	77885238	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:77885238C>T	ENST00000340067.3	-	2	641	c.363G>A	c.(361-363)caG>caA	p.Q121Q	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	121						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGTGGACCGTCTGCACACGCT	0.577000													12	33					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607970	68607970	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:68607970G>A	ENST00000234313.7	+	3	493	c.314G>A	c.(313-315)gGa>gAa	p.G105E		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	105					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TGCATTGAAGGAGGCCAGAAA	0.478000													149	38					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012249	29012249	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29012249C>T	ENST00000377175.1	-	1	768	c.704G>A	c.(703-705)cGa>cAa	p.R235Q		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CATTGCTTTTCGCTGGCTTGC	0.408000													21	97					0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111431408	111431408	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:111431408G>A	ENST00000265162.5	+	6	1544	c.1202G>A	c.(1201-1203)gGa>gAa	p.G401E		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	401					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CAGTGGTTTGGAAATATTGTG	0.378000													11	46					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90468627	90468627	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:90468627A>T	ENST00000369393.3	-	18	2628	c.2513T>A	c.(2512-2514)aTt>aAt	p.I838N	MDN1_ENST00000428876.1_Missense_Mutation_p.I838N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	838					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AGCCAAGTTAATCTCATCCAA	0.413000													11	10					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826630	46826630	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:46826630G>A	ENST00000283296.7	-	17	3298	c.3010C>T	c.(3010-3012)Cct>Tct	p.P1004S	GPR116_ENST00000265417.7_Missense_Mutation_p.P1004S|GPR116_ENST00000456426.2_Missense_Mutation_p.P862S|GPR116_ENST00000362015.4_Missense_Mutation_p.P1004S|GPR116_ENST00000545669.1_Missense_Mutation_p.P433S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1004					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGAGAACTAGGATCTGGGGAG	0.488000													12	70					0	0	1	0	0
DMTN	2039	broad.mit.edu	37	8	21925112	21925112	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:21925112C>T	ENST00000358242.3	+	4	661	c.168C>T	c.(166-168)atC>atT	p.I56I	DMTN_ENST00000443491.2_Silent_p.I31I|DMTN_ENST00000519907.1_Silent_p.I56I|DMTN_ENST00000517600.1_Silent_p.I31I|DMTN_ENST00000523782.2_Silent_p.I31I|DMTN_ENST00000415253.1_Silent_p.I56I|DMTN_ENST00000265800.5_Silent_p.I56I|DMTN_ENST00000432128.1_Silent_p.I56I|DMTN_ENST00000381470.3_Silent_p.I56I|DMTN_ENST00000523266.1_Silent_p.I56I					dematin actin binding protein																		TCCTGGACATCGAGCGGCCCG	0.602000													20	64					0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47279701	47279701	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:47279701C>T	ENST00000271153.4	+	6	774	c.738C>T	c.(736-738)ttC>ttT	p.F246F	CYP4B1_ENST00000371923.4_Silent_p.F247F|CYP4B1_ENST00000452782.2_Silent_p.F84F|CYP4B1_ENST00000371919.4_Silent_p.F232F			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	246					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					GCCGCCGCTTCCTGCGGGCCT	0.597000													20	40					0	0	1	0	0
GABRB2	2561	broad.mit.edu	37	5	160763709	160763709	+	Silent	SNP	C	C	T	rs138163747	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:160763709C>T	ENST00000274547.2	-	7	826	c.609G>A	c.(607-609)acG>acA	p.T203T	GABRB2_ENST00000517547.1_Silent_p.T43T|GABRB2_ENST00000517901.1_Silent_p.T140T|GABRB2_ENST00000393959.1_Silent_p.T203T|GABRB2_ENST00000520240.1_Silent_p.T203T|GABRB2_ENST00000353437.6_Silent_p.T203T	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	203					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTTCAATTTTCGTTACTCCTG	0.378000													13	57					0	0	1	0	0
GBE1	2632	broad.mit.edu	37	3	81548268	81548268	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:81548268G>A	ENST00000429644.2	-	15	2688	c.2045C>T	c.(2044-2046)tCt>tTt	p.S682F	GBE1_ENST00000489715.1_Missense_Mutation_p.S641F	NM_000158.3	NP_000149.3	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	682					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TACCAAAAGAGAATAGGGACG	0.358000									Glycogen Storage Disease, type IV				4	6					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57578924	57578924	+	Silent	SNP	C	C	T	rs141806742		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57578924C>T	ENST00000243077.3	+	40	6865	c.6399C>T	c.(6397-6399)ccC>ccT	p.P2133P		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2133					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACTCCGTGCCCCTGCGAACCG	0.607000													11	84					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2806851	2806851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2806851C>T	ENST00000520002.1	-	69	10930	c.10375G>A	c.(10375-10377)Gac>Aac	p.D3459N	CSMD1_ENST00000400186.3_Missense_Mutation_p.D3282N|CSMD1_ENST00000602557.1_Missense_Mutation_p.D3459N|CSMD1_ENST00000537824.1_Missense_Mutation_p.D3458N|CSMD1_ENST00000542608.1_Missense_Mutation_p.D3281N|CSMD1_ENST00000602723.1_Missense_Mutation_p.D3282N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3459						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTCCAAAGTCTTTTCCATGA	0.333000													16	31					0	0	1	0	0
STARD3	10948	broad.mit.edu	37	17	37819233	37819233	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:37819233G>T	ENST00000580611.1	+	14	1485	c.1355G>T	c.(1354-1356)tGg>tTg	p.W452L	STARD3_ENST00000394250.4_3'UTR|STARD3_ENST00000336308.5_3'UTR|STARD3_ENST00000544210.2_3'UTR			Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	0					cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GGTGCCAGTTGGGCTCGCACT	0.692000													14	25					0.000151284	0.000151645	1	1	0
MMP24	10893	broad.mit.edu	37	20	33862257	33862257	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:33862257G>A	ENST00000246186.6	+	9	1868	c.1783G>A	c.(1783-1785)Gat>Aat	p.D595N	MMP24-AS1_ENST00000566203.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000455178.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000454184.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	595					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GACCATCAACGATGTGCCGGG	0.617000													28	90					0	0	1	0	0
GPR174	84636	broad.mit.edu	37	X	78427144	78427144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:78427144G>A	ENST00000276077.1	+	1	676	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	214						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D214N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATCACTGCAAGATAAATATCC	0.428000										HNSCC(63;0.18)			20	21					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40958353	40958353	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:40958353G>A	ENST00000313164.9	+	11	1838	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	493					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TCCTCGTAGGGAATCAAGCAG	0.488000													15	53					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62289083	62289083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:62289083G>A	ENST00000378024.4	-	5	13080	c.12806C>T	c.(12805-12807)cCc>cTc	p.P4269L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4269					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCACCTTGGGACCTTTCAG	0.498000													97	119					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036905	32036905	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:32036905C>T	ENST00000375244.3	-	16	5797	c.5596G>A	c.(5596-5598)Gaa>Aaa	p.E1866K	TNXB_ENST00000375247.2_Missense_Mutation_p.E1866K			P22105	TENX_HUMAN	tenascin XB	1948	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TCCGTTTCTTCCCTGCCGGCT	0.627000													85	316					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72993058	72993058	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:72993058G>A	ENST00000268489.5	-	2	1659	c.987C>T	c.(985-987)atC>atT	p.I329I	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	329					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTCTTTGCCGATCCCTTGGA	0.473000													16	24					0	0	1	0	0
CEP112	201134	broad.mit.edu	37	17	63633277	63633277	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:63633277G>A	ENST00000577662.1	-	2	99	c.100C>T	c.(100-102)Cct>Tct	p.P34S	CEP112_ENST00000317442.8_Silent_p.I199I|CEP112_ENST00000535342.2_Silent_p.I943I|CEP112_ENST00000537949.1_Silent_p.I901I|CEP112_ENST00000541355.1_Silent_p.I507I|CEP112_ENST00000392769.2_Silent_p.I943I																							CTTCCTGAAGGATGGAAGCTC	0.433000													24	29					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82581333	82581333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82581333G>A	ENST00000423517.2	-	5	9273	c.8936C>T	c.(8935-8937)tCa>tTa	p.S2979L	PCLO_ENST00000333891.8_Missense_Mutation_p.S2979L	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2910					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATATGGCCCTGATCGATCATA	0.428000													34	183					0	0	1	0	0
SLC6A2	6530	broad.mit.edu	37	16	55725871	55725871	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:55725871C>T	ENST00000379906.2	+	5	1080	c.825C>T	c.(823-825)ttC>ttT	p.F275F	SLC6A2_ENST00000568943.1_Silent_p.F275F|SLC6A2_ENST00000567238.1_Silent_p.F170F|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000561820.1_Silent_p.F275F|SLC6A2_ENST00000219833.8_Silent_p.F275F|SLC6A2_ENST00000414754.3_Silent_p.F275F	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	275					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCGTGCTGTTCGTGCTCCTGG	0.602000													14	15					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1491747	1491747	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1491747G>A	ENST00000345913.4	+	10	1843	c.1752G>A	c.(1750-1752)cgG>cgA	p.R584R	TPO_ENST00000337415.3_Silent_p.R584R|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Silent_p.R411R|TPO_ENST00000382201.3_Intron|TPO_ENST00000349624.3_Silent_p.R411R|TPO_ENST00000346956.3_Silent_p.R584R|TPO_ENST00000329066.4_Silent_p.R584R	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	584					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AGAGGGGCCGGGACCACGGGC	0.582000													75	76					0	0	1	0	0
TRIP12	9320	broad.mit.edu	37	2	230643656	230643656	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:230643656C>A	ENST00000283943.5	-	34	5098	c.4920G>T	c.(4918-4920)caG>caT	p.Q1640H	TRIP12_ENST00000389045.3_Missense_Mutation_p.Q1370H|TRIP12_ENST00000389044.4_Missense_Mutation_p.Q1688H	NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1640					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TCTGTAGTTCCTGAGATACAA	0.398000													4	126					0.150653	0.150709	1	1	0
PACS2	23241	broad.mit.edu	37	14	105836195	105836195	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105836195G>A	ENST00000447393.1	+	8	934	c.759G>A	c.(757-759)caG>caA	p.Q253Q	PACS2_ENST00000430725.2_Silent_p.Q178Q|PACS2_ENST00000547217.1_Silent_p.Q223Q|PACS2_ENST00000458164.2_Silent_p.Q253Q|PACS2_ENST00000325438.8_Silent_p.Q253Q	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	253					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACTTCAAGCAGAAAGTGGTAG	0.672000													3	13					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149902842	149902842	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:149902842G>A	ENST00000439741.2	-	14	1556	c.1306C>T	c.(1306-1308)Ctc>Ttc	p.L436F	MTMR11_ENST00000361405.6_Silent_p.S233S|MTMR11_ENST00000369140.3_Missense_Mutation_p.L364F|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.P352L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	436	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCAAGGAAGAGGAGAAACACC	0.473000													25	20					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634264	70634264	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:70634264C>T	ENST00000381269.2	-	2	1629	c.876G>A	c.(874-876)atG>atA	p.M292I	SLC8A3_ENST00000356921.2_Missense_Mutation_p.M292I|SLC8A3_ENST00000534137.1_Missense_Mutation_p.M292I|SLC8A3_ENST00000357887.3_Missense_Mutation_p.M292I|SLC8A3_ENST00000528359.1_Missense_Mutation_p.M292I	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	292					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		AATGGGAATTCATCATTTTCC	0.473000													13	52					0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33157238	33157238	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33157238G>A	ENST00000341947.2	-	2	318	c.91C>T	c.(91-93)Cct>Tct	p.P31S	COL11A2_ENST00000361917.1_Missense_Mutation_p.P31S|COL11A2_ENST00000395197.1_Missense_Mutation_p.P31S|COL11A2_ENST00000357486.1_Missense_Mutation_p.P31S|COL11A2_ENST00000395194.1_Missense_Mutation_p.P31S|COL11A2_ENST00000374713.1_Missense_Mutation_p.P31S|COL11A2_ENST00000374714.1_Missense_Mutation_p.P31S|COL11A2_ENST00000374712.1_Missense_Mutation_p.P31S|COL11A2_ENST00000374708.4_Missense_Mutation_p.P31S	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	31	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACATCCACAGGGGGTGCACCT	0.587000													20	50					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140202440	140202440	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140202440G>A	ENST00000529859.1	+	1	1080	c.1080G>A	c.(1078-1080)gaG>gaA	p.E360E	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.E360E|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000378126.3_Silent_p.E360E|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCAAAGAGGACGCTCCAC	0.527000													54	29					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	20699541	20699541	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:20699541A>G	ENST00000298925.5	+	3	356	c.203A>G	c.(202-204)aAc>aGc	p.N68S	NELL1_ENST00000532434.1_Missense_Mutation_p.N40S|NELL1_ENST00000357134.5_Missense_Mutation_p.N40S|NELL1_ENST00000325319.5_Missense_Mutation_p.N40S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	40					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GACCTTGTGAACACCACCCTT	0.488000													51	43					0	0	1	0	0
DHRS9	10170	broad.mit.edu	37	2	169938249	169938249	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:169938249G>A	ENST00000327239.4	+	5	1662	c.158G>A	c.(157-159)gGa>gAa	p.G53E	DHRS9_ENST00000428522.1_Missense_Mutation_p.G53E|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000602501.1_Missense_Mutation_p.G53E|DHRS9_ENST00000412271.1_Missense_Mutation_p.G53E|DHRS9_ENST00000436483.2_Missense_Mutation_p.G53E|DHRS9_ENST00000432060.2_Missense_Mutation_p.G113E|DHRS9_ENST00000357546.2_Missense_Mutation_p.G53E	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	53					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GATAAAAAGGGATTTCATGTA	0.423000													21	33					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45855556	45855556	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45855556G>A	ENST00000391945.4	-	22	2178	c.2101C>T	c.(2101-2103)Ctc>Ttc	p.L701F	ERCC2_ENST00000391944.3_Missense_Mutation_p.L623F	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	701					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GCATCTGTGAGGTGCTCCTGG	0.657000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				32	44					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64473769	64473769	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:64473769C>T	ENST00000358025.3	+	31	4636	c.4406C>T	c.(4405-4407)tCa>tTa	p.S1469L	SYNE2_ENST00000344113.4_Missense_Mutation_p.S1469L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.S1469L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1469					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGAAAAAATCATTAATCAGA	0.343000													19	80					0	0	1	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98355344	98355344	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:98355344C>T	ENST00000339364.5	-	17	2527	c.2408G>A	c.(2407-2409)aGa>aAa	p.R803K	PIK3AP1_ENST00000371109.3_Missense_Mutation_p.R402K|PIK3AP1_ENST00000371110.2_Missense_Mutation_p.R625K	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	803						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCAGCGTCCTCTGGGTGGAAC	0.423000													24	68					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23295898	23295898	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:23295898G>A	ENST00000298032.5	+	14	1901	c.1817G>A	c.(1816-1818)aGt>aAt	p.S606N	ARMC3_ENST00000409049.3_Missense_Mutation_p.S606N|ARMC3_ENST00000376528.4_Missense_Mutation_p.S343N|ARMC3_ENST00000409983.3_Missense_Mutation_p.S606N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	606							binding	p.S606I(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTAATCAACAGTAAATCTTAC	0.438000													29	109					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2706434	2706434	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:2706434C>T	ENST00000399655.1	+	21	3097	c.2832C>T	c.(2830-2832)ttC>ttT	p.F944F	CACNA1C_ENST00000406454.3_Silent_p.F944F|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000347598.4_Silent_p.F944F|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399606.1_Silent_p.F944F|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399649.1_Silent_p.F944F|CACNA1C_ENST00000399603.1_Silent_p.F944F|CACNA1C_ENST00000399595.1_Silent_p.F944F|CACNA1C_ENST00000399634.1_Silent_p.F944F|CACNA1C_ENST00000399617.1_Silent_p.F944F|CACNA1C_ENST00000399638.1_Silent_p.F944F|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000344100.3_Silent_p.F944F|CACNA1C_ENST00000399597.1_Silent_p.F944F|CACNA1C_ENST00000402845.3_Silent_p.F944F|CACNA1C_ENST00000399621.1_Silent_p.F944F|CACNA1C_ENST00000335762.5_Silent_p.F969F	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	944					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCACCATTTTCACCATTGAAA	0.493000													66	73					0	0	1	0	0
SENP7	57337	broad.mit.edu	37	3	101044921	101044921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101044921G>A	ENST00000394095.2	-	24	3072	c.3019C>T	c.(3019-3021)Cct>Tct	p.P1007S	SENP7_ENST00000358203.3_Missense_Mutation_p.P843S|SENP7_ENST00000394085.3_Missense_Mutation_p.P195S|SENP7_ENST00000314261.7_Missense_Mutation_p.P941S|SENP7_ENST00000348610.3_Missense_Mutation_p.P974S|SENP7_ENST00000394091.1_Missense_Mutation_p.P843S|SENP7_ENST00000394094.2_Missense_Mutation_p.P942S	NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	1007	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTAACAATAGGATCCTAATGA	0.308000													12	5					0	0	1	0	0
SHF	90525	broad.mit.edu	37	15	45464451	45464451	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:45464451G>A	ENST00000290894.8	-	6	1353	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	SHF_ENST00000318390.6_Missense_Mutation_p.P297S|SHF_ENST00000458022.2_Missense_Mutation_p.P103S|SHF_ENST00000560471.1_Missense_Mutation_p.P352S|SHF_ENST00000560540.1_Missense_Mutation_p.P305S|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000560734.1_Intron	NM_138356.2	NP_612365.2	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	287										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GAGAGTCGGGGAGGTAGCCGC	0.602000													27	46					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970798	151970798	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:151970798G>A	ENST00000355193.2	-	7	1222	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	KMT2C_ENST00000262189.6_Missense_Mutation_p.P335L					lysine (K)-specific methyltransferase 2C																		ACATCTTTCAGGAGCTTGGTC	0.388000													10	169					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745540	77745540	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:77745540A>C	ENST00000409088.3	-	3	1869	c.1455T>G	c.(1453-1455)taT>taG	p.Y485*	LRRTM4_ENST00000409282.1_Nonsense_Mutation_p.Y486*|LRRTM4_ENST00000409093.1_Nonsense_Mutation_p.Y485*|LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.Y485*|LRRTM4_ENST00000409911.1_Nonsense_Mutation_p.Y486*	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	485						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TGTAGTCCACATAATACTCCT	0.463000													4	19					0	0	1	0	0
ITGAV	3685	broad.mit.edu	37	2	187455095	187455095	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:187455095C>T	ENST00000261023.3	+	1	304	c.30C>T	c.(28-30)cgC>cgT	p.R10R	ITGAV_ENST00000374907.3_Silent_p.R10R	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	10					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACGGCTGCGCCTCGGTCCCC	0.716000													6	22					0	0	1	0	0
CNTNAP4	85445	broad.mit.edu	37	16	76481970	76481970	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:76481970C>T	ENST00000307431.8	+	6	982	c.597C>T	c.(595-597)tcC>tcT	p.S199S	CNTNAP4_ENST00000478060.1_Silent_p.S175S|CNTNAP4_ENST00000476707.1_Silent_p.S203S|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Silent_p.S199S	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	200					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATCAAAAATCCCTGAGCCCAA	0.383000													34	3					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146220446	146220446	+	RNA	SNP	G	G	A	rs4489360	by1000genomes	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:146220446G>A	ENST00000426361.2	-	0	245					NR_023392.1															endometrium(1)	1						TGGCACATACGAGATCTCTGA	0.502000													4	8					0	0	1	0	0
TBXA2R	6915	broad.mit.edu	37	19	3600469	3600469	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:3600469C>T	ENST00000375190.4	-	2	557	c.164G>A	c.(163-165)gGg>gAg	p.G55E	TBXA2R_ENST00000589966.1_Missense_Mutation_p.G55E|TBXA2R_ENST00000411851.3_Missense_Mutation_p.G55E	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	55					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GTGCGAACCCCCCTGCCGCGC	0.701000													13	19					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219873831	219873831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:219873831C>T	ENST00000341552.5	-	29	4695	c.4612G>A	c.(4612-4614)Gag>Aag	p.E1538K	CCDC108_ENST00000453220.1_Missense_Mutation_p.E1538K|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1538K	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1538						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTCCACTCCTGCAGCTCC	0.562000													15	37					0	0	1	0	0
ANKRD36BP1	84832	broad.mit.edu	37	1	168215983	168215983	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:168215983C>T	ENST00000358576.4	-	0	598					NR_026844.1															lung(1)	1						TTTTCCTTCTCCAGTTTAGAA	0.398000													3	8					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739032	40739032	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:40739032G>A	ENST00000373198.3	-	24	3496	c.3261C>T	c.(3259-3261)ttC>ttT	p.F1087F	PTPRT_ENST00000373201.1_Silent_p.F1055F|PTPRT_ENST00000356100.2_Silent_p.F1074F|PTPRT_ENST00000373184.1_Silent_p.F1075F|PTPRT_ENST00000373190.1_Silent_p.F1064F|PTPRT_ENST00000373193.3_Silent_p.F1068F|PTPRT_ENST00000373187.1_Silent_p.F1065F	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1065	Substrate binding (By similarity).|Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGGCGGACGAAGCCCAGAA	0.622000													9	53					0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761627	92761627	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:92761627C>T	ENST00000318238.4	-	5	4874	c.3658G>A	c.(3658-3660)Gaa>Aaa	p.E1220K	SAMD9L_ENST00000411955.1_Missense_Mutation_p.E1220K|SAMD9L_ENST00000437805.1_Missense_Mutation_p.E1220K	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1220								p.E1220*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATTCATTTTCTTTGTGGAAA	0.368000													16	74					0	0	1	0	0
SLC1A5	6510	broad.mit.edu	37	19	47280488	47280488	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47280488G>A	ENST00000542575.2	-	6	1861	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	SLC1A5_ENST00000412532.2_Silent_p.F183F|SLC1A5_ENST00000594991.1_Silent_p.F235F|SLC1A5_ENST00000434726.2_Silent_p.F209F	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	411					cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TGATCTTTACGAAGTCCAAGG	0.612000													7	28					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60928079	60928079	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:60928079C>T	ENST00000321731.3	-	13	1269	c.1110G>A	c.(1108-1110)ggG>ggA	p.G370G		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	370										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TACCTTTATCCCCTTTTTCCG	0.289000													8	17					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831736	49831736	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:49831736C>T	ENST00000527477.1	+	0	1961																											TATACACCATCCCTAATTGCT	0.443000													30	151					0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32098175	32098175	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32098175G>A	ENST00000373703.4	-	4	568	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	182	EF-hand 2.|EF-hand 3.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		ACTGCTGGATGAATTTCCACA	0.572000													10	14					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93708899	93708899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:93708899G>A	ENST00000334746.5	-	11	3426	c.3119C>T	c.(3118-3120)cCt>cTt	p.P1040L	BTBD7_ENST00000554565.1_Missense_Mutation_p.P689L|BTBD7_ENST00000393170.2_Missense_Mutation_p.P614L	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	1040										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GGCTGCCAAAGGAAAGTCTGA	0.517000													44	140					0	0	1	0	0
PTGER3	5733	broad.mit.edu	37	1	71512661	71512661	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:71512661G>A	ENST00000370924.4	-	1	830	c.600C>T	c.(598-600)acC>acT	p.T200T	PTGER3_ENST00000414819.1_Silent_p.T200T|PTGER3_ENST00000370931.3_Silent_p.T200T|PTGER3_ENST00000460330.1_Silent_p.T200T|PTGER3_ENST00000306666.5_Silent_p.T200T|PTGER3_ENST00000356595.4_Silent_p.T200T|PTGER3_ENST00000370932.2_Silent_p.T200T|PTGER3_ENST00000354608.5_Silent_p.T200T|PTGER3_ENST00000351052.5_Silent_p.T200T	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	200					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GCCACTGGACGGTGTACTGGC	0.677000													13	14					0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842823	4842823	+	Missense_Mutation	SNP	C	C	T	rs113742153	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:4842823C>T	ENST00000322110.5	+	1	273	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGGAGCCTCCATAAGCCTAT	0.473000													90	101					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	112005938	112005938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:112005938G>A	ENST00000374566.3	-	15	1886	c.1369C>T	c.(1369-1371)Ccc>Tcc	p.P457S	EPB41L4B_ENST00000374557.4_Missense_Mutation_p.P457S	NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	457						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTGGCTGGGATGGATATTA	0.433000													30	9					0	0	1	0	0
SYNGR1	9145	broad.mit.edu	37	22	39772135	39772135	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:39772135C>T	ENST00000328933.5	+	3	431	c.416C>T	c.(415-417)cCa>cTa	p.P139L	SYNGR1_ENST00000318801.4_Missense_Mutation_p.P139L|SYNGR1_ENST00000381535.4_Missense_Mutation_p.P140L|SYNGR1_ENST00000406293.3_Missense_Mutation_p.P139L	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					AAGGACAACCCACTGAACGAA	0.637000													25	102					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349370	101349370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:101349370C>T	ENST00000534062.1	-	1	1814	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	586										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCAGAAAGATCATCGGATCCG	0.562000													17	49					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949435	118949435	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:118949435C>T	ENST00000328252.3	+	2	787	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	140					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCACATAGGGCTGTATGACAA	0.413000													28	2					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215853493	215853493	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:215853493T>C	ENST00000366943.2	-	62	12678	c.12292A>G	c.(12292-12294)Aag>Gag	p.K4098E	USH2A_ENST00000307340.3_Missense_Mutation_p.K4098E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4098	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GACATTACCTTAATCACACCA	0.433000										HNSCC(13;0.011)			61	45					0	0	1	0	0
ELMOD1	55531	broad.mit.edu	37	11	107518278	107518278	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:107518278C>T	ENST00000265840.7	+	7	770	c.505C>T	c.(505-507)Cct>Tct	p.P169S	ELMOD1_ENST00000443271.2_Missense_Mutation_p.P169S|ELMOD1_ENST00000531234.1_Missense_Mutation_p.P163S	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	169	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGGTGATGATCCTAAAACAGA	0.403000													15	10					0	0	1	0	0
PLA2G3	50487	broad.mit.edu	37	22	31532914	31532914	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:31532914G>A	ENST00000215885.3	-	5	1431	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	393					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						AGTTGCAGTGGAAGAGGGGCT	0.682000													3	6					0	0	1	0	0
HSPA5	3309	broad.mit.edu	37	9	128000919	128000919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:128000919G>A	ENST00000324460.6	-	6	1387	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	395					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	AGCACCATACGCTACAGCTTC	0.478000										Prostate(1;0.17)			3	37					0	0	1	0	0
SPPL3	121665	broad.mit.edu	37	12	121206221	121206221	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:121206221G>A	ENST00000353487.2	-	8	1183	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	228						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AACGTCAAGGGGATTGTCAGC	0.532000													41	136					0	0	1	0	0
IL2RG	3561	broad.mit.edu	37	X	70329078	70329078	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:70329078C>T	ENST00000374202.2	-	5	848	c.757_splice	c.e5+1	p.E253_splice	IL2RG_ENST00000456850.2_Splice_Site_p.E63_splice|IL2RG_ENST00000374188.3_Splice_Site_p.R14_splice	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	253					immune response|interleukin-4-mediated signaling pathway|interspecies interaction between organisms	external side of plasma membrane|integral to plasma membrane	cytokine receptor activity|interleukin-2 binding			breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CCCATTTTACCTTTTGAAGTA	0.517000									Severe Combined Immunodeficiency, X-linked				17	14					0	0	1	0	0
WBP2NL	164684	broad.mit.edu	37	22	42415784	42415784	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:42415784G>A	ENST00000328823.9	+	3	321	c.290G>A	c.(289-291)gGa>gAa	p.G97E	WBP2NL_ENST00000543212.1_Missense_Mutation_p.G23E	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like	97					egg activation|male pronucleus assembly|meiosis	perinuclear theca	WW domain binding			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						TTCATTAAGGGAACTATTCAG	0.388000													33	108					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18528467	18528467	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:18528467G>A	ENST00000536719.1	-	6	619	c.485C>T	c.(484-486)tCc>tTc	p.S162F	TSG101_ENST00000357193.3_Missense_Mutation_p.S57F|TSG101_ENST00000251968.3_Missense_Mutation_p.S162F|TSG101_ENST00000543087.1_5'UTR			Q99816	TS101_HUMAN	tumor susceptibility 101	162	Interaction with CEP55.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TGGCATGTAGGAAGCTAAAAA	0.368000													10	53					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134179596	134179596	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134179596C>T	ENST00000431683.2	+	11	1038	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	346					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGGAACCAACTTTGGTTTCA	0.478000													9	3					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	19970322	19970322	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:19970322C>T	ENST00000396085.1	+	10	2702	c.2341C>T	c.(2341-2343)Ctg>Ttg	p.L781L	NAV2_ENST00000396087.3_Silent_p.L804L|NAV2_ENST00000360655.4_Silent_p.L717L|NAV2_ENST00000540292.1_Silent_p.L735L|NAV2_ENST00000527559.2_Silent_p.L733L|NAV2_ENST00000349880.4_Silent_p.L781L	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	804						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GCCCACACCTCTGTCCTGGAG	0.577000													15	17					0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159170697	159170697	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:159170697G>A	ENST00000368125.4	+	9	1339	c.1182G>A	c.(1180-1182)aaG>aaA	p.K394K	CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.K428K|CADM3_ENST00000497636.1_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	394					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACGACAAGAAGGAATATTTCA	0.617000													19	103					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93173037	93173037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:93173037G>A	ENST00000322349.8	-	25	3772	c.3508C>T	c.(3508-3510)Cag>Tag	p.Q1170*		NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN	early endosome antigen 1	1170	Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AATTTCTGCTGAATTAGAAGC	0.363000													24	2					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56487560	56487560	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56487560A>T	ENST00000291971.3	+	8	2838	c.2767A>T	c.(2767-2769)Aat>Tat	p.N923Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.N904Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	923						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GCTCTGTAAAAATAAAACCCT	0.408000													40	36					0	0	1	0	0
SALL3	27164	broad.mit.edu	37	18	76755193	76755193	+	Missense_Mutation	SNP	C	C	T	rs149889901		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:76755193C>T	ENST00000536229.3	+	2	3296	c.2587C>T	c.(2587-2589)Cac>Tac	p.H863Y	SALL3_ENST00000537592.2_Missense_Mutation_p.H1068Y|SALL3_ENST00000575389.2_Missense_Mutation_p.H996Y			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1068					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AGTGAACGGTCACGGCAAGGC	0.652000													27	15					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66430726	66430726	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:66430726C>T	ENST00000383703.3	-	20	3777	c.3174G>A	c.(3172-3174)ggG>ggA	p.G1058G	SLC25A26_ENST00000536651.1_3'UTR|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Silent_p.G1081G			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	1081						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCCTCTGTTTCCCGGGGAGCT	0.557000													43	9					0	0	1	0	0
OR1G1	8390	broad.mit.edu	37	17	3030189	3030189	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3030189C>T	ENST00000328890.2	-	1	686	c.657G>A	c.(655-657)acG>acA	p.T219T		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						AGAAAACGTTCGTGTAAGAGA	0.512000													17	67					0	0	1	0	0
LENEP	55891	broad.mit.edu	37	1	154966191	154966191	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154966191G>A	ENST00000392487.1	+	1	128	c.108G>A	c.(106-108)tgG>tgA	p.W36*				Q9Y5L5	LENEP_HUMAN	lens epithelial protein	36					multicellular organismal development		DNA binding			lung(2)	2	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCACAGGGTGGGAGGGCTTCC	0.607000													28	47					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196658634	196658634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196658634G>A	ENST00000367429.4	+	8	1289	c.1049G>A	c.(1048-1050)gGa>gAa	p.G350E	CFH_ENST00000439155.2_Missense_Mutation_p.G350E|CFH_ENST00000359637.2_Missense_Mutation_p.G286E	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	350	Sushi 6.				complement activation, alternative pathway	extracellular space		p.G350E(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTAGCTGTAGGAAAATATTAC	0.383000													7	82					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73458247	73458247	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:73458247C>T	ENST00000252034.7	+	9	865	c.466C>T	c.(466-468)Cca>Tca	p.P156S	ELN_ENST00000320399.6_Missense_Mutation_p.P156S|ELN_ENST00000458204.1_Missense_Mutation_p.P146S|ELN_ENST00000445912.1_Missense_Mutation_p.P156S|ELN_ENST00000357036.5_Missense_Mutation_p.P161S|ELN_ENST00000429192.1_Missense_Mutation_p.P161S|ELN_ENST00000320492.7_Missense_Mutation_p.P144S|ELN_ENST00000414324.1_Missense_Mutation_p.P151S|ELN_ENST00000380553.4_Intron|ELN_ENST00000380562.4_Missense_Mutation_p.P156S|ELN_ENST00000380575.4_Missense_Mutation_p.P146S|ELN_ENST00000380576.5_Missense_Mutation_p.P156S|ELN_ENST00000380584.4_Missense_Mutation_p.P156S|ELN_ENST00000358929.4_Missense_Mutation_p.P156S	NM_000501.2	NP_000492.2	P15502	ELN_HUMAN	elastin	156					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCGTGCTCCCAGGTGAGAG	0.572000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						18	24					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6679431	6679431	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6679431G>A	ENST00000245907.6	-	37	4625	c.4533C>T	c.(4531-4533)tgC>tgT	p.C1511C	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1511					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGCACAGCGGCACAGTTCAT	0.572000													77	66					0	0	1	0	0
RBM45	129831	broad.mit.edu	37	2	178977483	178977483	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:178977483C>T	ENST00000286070.5	+	1	302	c.210C>T	c.(208-210)ttC>ttT	p.F70F		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	70	RRM 1.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			GCATTGCTTTCGTCAAGTTCG	0.627000													19	35					0	0	1	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168838	142168838	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142168838G>A	ENST00000454561.2	-	0	207																											AGGAGCCCAGGGCCCATGGCA	0.607000													10	31					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52961997	52961997	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:52961997C>T	ENST00000549343.1	-	8	1391	c.1353G>A	c.(1351-1353)atG>atA	p.M451I	KRT74_ENST00000305620.2_Missense_Mutation_p.M437I			Q7RTS7	K2C74_HUMAN	keratin 74	437	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGGCAATCTCCATGTCCAGGG	0.642000													12	31					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121725944	121725944	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121725944G>A	ENST00000273691.3	-	2	228	c.123C>T	c.(121-123)atC>atT	p.I41I	ILDR1_ENST00000393631.1_Silent_p.I41I|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Silent_p.I53I|ILDR1_ENST00000344209.5_Silent_p.I41I	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	41	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ATTTGAGGATGATAGAGGCAA	0.522000													16	51					0	0	1	0	0
APCDD1	147495	broad.mit.edu	37	18	10471728	10471728	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:10471728C>T	ENST00000355285.4	+	3	798	c.444C>T	c.(442-444)caC>caT	p.H148H	APCDD1_ENST00000578882.1_Silent_p.H148H	NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1	148					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		ACCAGCTGCACAACGTCCAGG	0.647000													42	5					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56477621	56477621	+	Silent	SNP	C	C	T	rs61740147	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56477621C>T	ENST00000291971.3	+	5	2327	c.2256C>T	c.(2254-2256)atC>atT	p.I752I	NLRP8_ENST00000590542.1_Silent_p.I752I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	752						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGGACTTAATCGGTGTTTTGA	0.502000													42	65					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	98994205	98994205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:98994205G>A	ENST00000393504.1	+	3	574	c.157G>A	c.(157-159)Gag>Aag	p.E53K	CNGA3_ENST00000272602.2_Missense_Mutation_p.E53K|CNGA3_ENST00000409937.1_Missense_Mutation_p.E2K|CNGA3_ENST00000436404.2_Missense_Mutation_p.E53K	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	53					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GATCGCCATGGAGACCAGAGG	0.592000													5	25					0	0	1	0	0
PTGER2	5732	broad.mit.edu	37	14	52793975	52793975	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52793975G>A	ENST00000245457.5	+	2	1034	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	PTGER2_ENST00000557436.1_Missense_Mutation_p.E39K	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	294						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	TTCCCGAAAGGAAAAATGGGA	0.398000													7	53					0	0	1	0	0
OR2M4	26245	broad.mit.edu	37	1	248402747	248402747	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248402747G>A	ENST00000306687.1	+	1	517	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTCTCTGGAAATTCATCA	0.433000													22	132					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283441	33283441	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:33283441G>A	ENST00000431845.2	-	2	1404	c.1253C>T	c.(1252-1254)cCc>cTc	p.P418L	ZBTB22_ENST00000418724.1_Missense_Mutation_p.P418L	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						CATGTCCAAGGGAAGGAGCGG	0.617000													124	97					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155721887	155721887	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155721887C>T	ENST00000437809.1	-	30	6456	c.6334G>A	c.(6334-6336)Ggg>Agg	p.G2112R	GON4L_ENST00000271883.5_Missense_Mutation_p.G2112R|GON4L_ENST00000368331.1_Missense_Mutation_p.G2113R			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2113					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GCCAAACCCCCTCTAGGGGCT	0.562000													19	144					0	0	1	0	0
RETNLB	84666	broad.mit.edu	37	3	108474705	108474705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108474705C>T	ENST00000295755.6	-	3	454	c.256G>A	c.(256-258)Gat>Aat	p.D86N	RETNLB_ENST00000482939.1_Intron	NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	86					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						AGCTGAACATCCCACGAACCA	0.572000													47	23					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454770	179454770	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179454770G>A	ENST00000589042.1	-	304	61906	c.61682C>T	c.(61681-61683)tCa>tTa	p.S20561L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S17993L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S11496L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S11621L|TTN_ENST00000342175.6_Missense_Mutation_p.S11688L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S18920L|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18920	Fibronectin type-III 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACGATGGCTGAACCTTGGGC	0.433000													36	30					0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848477	78848477	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:78848477G>A	ENST00000545128.1	+	22	3369	c.2831G>A	c.(2830-2832)gGa>gAa	p.G944E		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	647					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGATGCCAAGGAAGTGGCCCT	0.527000													33	7					0	0	1	0	0
KL	9365	broad.mit.edu	37	13	33634886	33634886	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:33634886T>C	ENST00000380099.3	+	4	1678	c.1670T>C	c.(1669-1671)cTt>cCt	p.L557P	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	557	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGTAAAAGGCTTATTAAAGTG	0.468000													24	43					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54573733	54573733	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:54573733C>T	ENST00000064571.2	-	3	1786	c.486G>A	c.(484-486)acG>acA	p.T162T		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	162	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			GGACACCATTCGTGGCAGCTT	0.403000													5	71					0	0	1	0	0
CAAP1	79886	broad.mit.edu	37	9	26842533	26842533	+	Silent	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:26842533G>C	ENST00000333916.5	-	6	940	c.852C>G	c.(850-852)gtC>gtG	p.V284V	CAAP1_ENST00000535437.1_Silent_p.V139V|CAAP1_ENST00000520187.1_3'UTR	NM_001167575.1|NM_024828.3	NP_001161047.1|NP_079104.3	Q9H8G2	CI082_HUMAN	caspase activity and apoptosis inhibitor 1	284																	CTTCACTTTGGACTGTATTTT	0.458000													101	21					0	0	1	0	0
OXCT1	5019	broad.mit.edu	37	5	41794831	41794831	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41794831G>A	ENST00000196371.5	-	12	1280	c.1120C>T	c.(1120-1122)Ctt>Ttt	p.L374F	OXCT1_ENST00000509987.1_Missense_Mutation_p.L188F	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	374					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GCTCCTGGAAGAATAGTAACT	0.398000													9	42					0	0	1	0	0
OR8S1	341568	broad.mit.edu	37	12	48919680	48919680	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:48919680G>A	ENST00000310194.1	+	1	266	c.266G>A	c.(265-267)aGg>aAg	p.R89K	OR8S1_ENST00000551654.1_Intron	NM_001005203.2	NP_001005203.2	Q8NH09	OR8S1_HUMAN	olfactory receptor, family 8, subfamily S, member 1	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						CTGTCACAGAGGAAAACCATT	0.502000													19	59					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169312711	169312711	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:169312711C>T	ENST00000511577.1	-	29	4142	c.3895G>A	c.(3895-3897)Gat>Aat	p.D1299N	DDX60L_ENST00000505890.1_Missense_Mutation_p.D1300N|DDX60L_ENST00000260184.7_Missense_Mutation_p.D1299N			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1299	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTAAAGCATCCAGATAGACT	0.403000													9	6					0	0	1	0	0
STX16	8675	broad.mit.edu	37	20	57245658	57245658	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:57245658G>A	ENST00000371141.4	+	6	1371	c.648_splice	c.e6+1	p.R216_splice	STX16_ENST00000359617.4_Splice_Site_p.R163_splice|STX16_ENST00000358029.4_Splice_Site_p.R212_splice|STX16_ENST00000355957.5_Splice_Site_p.R199_splice|STX16_ENST00000361770.5_Splice_Site_p.R199_splice|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361830.3_Splice_Site_p.R216_splice|STX16_ENST00000371132.4_Splice_Site_p.R195_splice|STX16-NPEPL1_ENST00000530122.1_Splice_Site_p.R216_splice	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	216					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			CTTTACCATCGGGTACGTGAA	0.473000													30	90					0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234346084	234346084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:234346084C>T	ENST00000264057.2	+	8	893	c.881C>T	c.(880-882)tCa>tTa	p.S294L	DGKD_ENST00000409813.3_Missense_Mutation_p.S250L	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	294					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TGCAAAGTGTCAGTCATCCCA	0.552000													6	14					0	0	1	0	0
MAPK8IP1	9479	broad.mit.edu	37	11	45926268	45926268	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:45926268G>A	ENST00000395629.2	+	9	2076		c.e9-1		MAPK8IP1_ENST00000241014.2_Splice_Site			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1						vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		GTCACCTGTAGATTGCCACCA	0.607000													29	73					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101540541	101540541	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101540541C>T	ENST00000422132.1	+	5	1620	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	NXPE3_ENST00000477909.1_Missense_Mutation_p.P475S|NXPE3_ENST00000273347.5_Missense_Mutation_p.P475S|NXPE3_ENST00000491511.1_Missense_Mutation_p.P475S					neurexophilin and PC-esterase domain family, member 3																		CGATCGAAGCCCAAAGACCGT	0.567000													27	71					0	0	1	0	0
ZBTB32	27033	broad.mit.edu	37	19	36205574	36205574	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36205574C>T	ENST00000392197.2	+	3	364	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	ZBTB32_ENST00000262630.3_Missense_Mutation_p.R16W			Q9Y2Y4	ZBT32_HUMAN	zinc finger and BTB domain containing 32	16					DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			large_intestine(5)|lung(1)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	14	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGGCTCTGATCGGCTGGTACA	0.602000													82	118					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76734938	76734938	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76734938G>A	ENST00000369963.3	-	4	490	c.301C>T	c.(301-303)Cct>Tct	p.P101S	IMPG1_ENST00000369950.3_Missense_Mutation_p.P179S			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	179					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GTTTCACCAGGCTCTCCCAAT	0.343000													10	24					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65784602	65784602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65784602C>T	ENST00000312106.5	-	11	2382	c.2245G>A	c.(2245-2247)Gtg>Atg	p.V749M		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	749					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TCCTGCTCCACGCTTGCCACC	0.657000													8	24					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900779	51900779	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:51900779G>A	ENST00000268919.4	+	1	541	c.385G>A	c.(385-387)Gac>Aac	p.D129N		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	129					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCCTCAGGGGACAGCCTGGA	0.572000													24	111					0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74907304	74907304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:74907304C>T	ENST00000357877.2	+	14	2430	c.2281C>T	c.(2281-2283)Cct>Tct	p.P761S	SEMA4F_ENST00000339773.5_Missense_Mutation_p.P606S	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	761					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						AACTGGGGCTCCTCTAGCCAC	0.557000													14	99					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712496	121712496	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:121712496C>T	ENST00000273691.3	-	6	1073	c.968G>A	c.(967-969)gGg>gAg	p.G323E	ILDR1_ENST00000393631.1_Missense_Mutation_p.G278E|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Missense_Mutation_p.G335E|ILDR1_ENST00000344209.5_Missense_Mutation_p.G367E	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	367						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GTGGCTTCTCCCCTCCCTCAG	0.592000													23	29					0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88085211	88085211	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:88085211G>A	ENST00000273963.5	-	9	1899	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S	KLHL8_ENST00000498875.2_Missense_Mutation_p.P444S|KLHL8_ENST00000425278.2_Missense_Mutation_p.P337S|KLHL8_ENST00000512111.1_Missense_Mutation_p.P520S|KLHL8_ENST00000545252.1_Missense_Mutation_p.P169S	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	520			P -> R (in dbSNP:rs17854114).							breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GAACTCAGAGGAGAATTATCA	0.383000													15	48					0	0	1	0	0
SPOCK3	50859	broad.mit.edu	37	4	167656164	167656164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:167656164C>T	ENST00000357154.3	-	12	1356	c.1219G>A	c.(1219-1221)Gat>Aat	p.D407N	SPOCK3_ENST00000502330.1_Missense_Mutation_p.D407N|SPOCK3_ENST00000511269.1_Missense_Mutation_p.D404N|SPOCK3_ENST00000511531.1_Missense_Mutation_p.D407N|SPOCK3_ENST00000357545.4_Missense_Mutation_p.D404N|SPOCK3_ENST00000541354.1_Missense_Mutation_p.D287N|SPOCK3_ENST00000512681.1_Missense_Mutation_p.D309N|SPOCK3_ENST00000421836.2_Missense_Mutation_p.D356N|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000541637.1_Missense_Mutation_p.D309N|SPOCK3_ENST00000510741.1_Missense_Mutation_p.D364N|SPOCK3_ENST00000506886.1_Missense_Mutation_p.D407N|SPOCK3_ENST00000535728.1_Missense_Mutation_p.D275N|SPOCK3_ENST00000534949.1_Missense_Mutation_p.D311N|SPOCK3_ENST00000504953.1_Missense_Mutation_p.D404N	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	407	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D404N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		ttcataatatcgtcttcatca	0.358000													7	45					0	0	1	0	0
AKAP11	11215	broad.mit.edu	37	13	42875112	42875112	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:42875112C>T	ENST00000025301.2	+	8	2405	c.2230C>T	c.(2230-2232)Cct>Tct	p.P744S		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	744					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CACGTTTTCCCCTTCTTTTCA	0.418000													19	40					0	0	1	0	0
EIF4H	7458	broad.mit.edu	37	7	73609501	73609501	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:73609501G>C	ENST00000265753.8	+	7	749	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	EIF4H_ENST00000353999.6_Missense_Mutation_p.E184Q	NM_022170.1	NP_071496.1	Q15056	IF4H_HUMAN	eukaryotic translation initiation factor 4H	204					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TCCCCCAGAGGAAAGAGCACA	0.522000													10	64					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136396	40136396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:40136396C>T	ENST00000278198.2	-	2	3410	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	LRRC4C_ENST00000527150.1_Missense_Mutation_p.D483N|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D483N|LRRC4C_ENST00000528697.1_Missense_Mutation_p.D483N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	483					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)				GTCTCCCAGTCGACCACTGGA	0.502000													36	41					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67121137	67121137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:67121137G>A	ENST00000284425.2	-	9	1333	c.1159C>T	c.(1159-1161)Cct>Tct	p.P387S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	387					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAAGGGTCAGGAAAAATTACA	0.284000													15	33					0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35544123	35544123	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:35544123T>G	ENST00000287272.2	+	6	832	c.812T>G	c.(811-813)tTg>tGg	p.L271W	UNC5D_ENST00000416672.1_Missense_Mutation_p.L327W|UNC5D_ENST00000404895.2_Missense_Mutation_p.L327W|UNC5D_ENST00000453357.2_Missense_Mutation_p.L322W|UNC5D_ENST00000420357.1_Missense_Mutation_p.L271W			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	327	TSP type-1 1.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGTGAACATTTGCGGATCCGG	0.498000													27	34					0	0	1	0	0
KLRC2	3822	broad.mit.edu	37	12	10586473	10586473	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:10586473C>T	ENST00000381902.2	-	4	406	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	KLRC2_ENST00000381901.1_Missense_Mutation_p.E134K|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000536833.2_Missense_Mutation_p.E75K	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	134	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GTTCTTCTTTCCTTACCAATG	0.368000													27	38					0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48372429	48372429	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:48372429G>A	ENST00000380518.3	-	42	3010	c.2846C>T	c.(2845-2847)cCt>cTt	p.P949L	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.P880L	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	949	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	GGGTCCAGCAGGACCTTGGAG	0.662000													12	43					0	0	1	0	0
HARS	3035	broad.mit.edu	37	5	140062771	140062771	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140062771C>G	ENST00000504366.1	-	2	1826	c.7G>C	c.(7-9)Gtt>Ctt	p.V3L	HARS_ENST00000431330.2_Intron|HARS_ENST00000415192.2_Missense_Mutation_p.V72L|HARS_ENST00000438307.2_Intron|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000504156.1_Missense_Mutation_p.V72L|HARS_ENST00000457527.2_Missense_Mutation_p.V72L|HARS_ENST00000307633.3_Intron			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	72	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TTCTCGCGAACTGCCATCTGC	0.458000													18	53					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57640749	57640749	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:57640749C>T	ENST00000254181.4	+	4	1160	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USP29_ENST00000598197.1_Missense_Mutation_p.P236S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	236					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TAATGGAAATCCTAACCTAGA	0.413000													36	37					0	0	1	0	0
SLC10A4	201780	broad.mit.edu	37	4	48490878	48490878	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:48490878G>A	ENST00000273861.4	+	3	1455	c.1236G>A	c.(1234-1236)gaG>gaA	p.E412E		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	412						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						TAAAAGAAGAGGAAATGGCAG	0.348000													9	22					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61835987	61835987	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61835987G>A	ENST00000280772.1	-	37	4843	c.4652C>T	c.(4651-4653)tCc>tTc	p.S1551F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1551	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GCCTAATGTGGATTTGATTGG	0.418000													28	83					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90073739	90073739	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:90073739G>A	ENST00000405460.2	+	62	12641	c.12545G>A	c.(12544-12546)gGg>gAg	p.G4182E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4182					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CGAGGCCCAGGGATTTTGGGG	0.413000													7	12					0	0	1	0	0
TBP	6908	broad.mit.edu	37	6	170871064	170871064	+	Silent	SNP	G	G	A	rs112748399		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:170871064G>A	ENST00000392092.2	+	3	519	c.240G>A	c.(238-240)caG>caA	p.Q80Q	TBP_ENST00000230354.6_Silent_p.Q80Q|TBP_ENST00000540980.1_Silent_p.Q60Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	80	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577000													7	13					0	0	1	0	0
SRSF3	6428	broad.mit.edu	37	6	36567607	36567607	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:36567607C>T	ENST00000339436.7	+	4	467	c.351C>T	c.(349-351)atC>atT	p.I117I	SRSF3_ENST00000373715.6_Intron			P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	0	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						GAGTCACCATCATGTCTCTTC	0.443000													8	41					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5462260	5462260	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5462260G>A	ENST00000380211.1	-	1	484	c.485C>T	c.(484-486)cCt>cTt	p.P162L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P162L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCACAAAAGGGAAAGGGAA	0.463000													31	39					0	0	1	0	0
CMA1	1215	broad.mit.edu	37	14	24974865	24974865	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:24974865C>T	ENST00000250378.3	-	5	630	c.600_splice	c.e5-1	p.G201_splice	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Splice_Site_p.G90_splice	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	201	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCAGAGTCTCCCTGTAGGGGG	0.602000													24	74					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42885818	42885818	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42885818G>A	ENST00000342560.5	+	2	294	c.206G>A	c.(205-207)gGc>gAc	p.G69D	GDAP1L1_ENST00000372952.3_Missense_Mutation_p.G69D|GDAP1L1_ENST00000537864.1_Intron	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	69	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCGAGAAGGGCCTGGTGTGC	0.697000													3	7					0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140984622	140984622	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140984622C>T	ENST00000544766.1	+	5	711	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	MAGEC3_ENST00000536088.1_Missense_Mutation_p.P62S|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000409007.1_Missense_Mutation_p.P62S|MAGEC3_ENST00000298296.1_Intron|MAGEC3_ENST00000483584.1_3'UTR	NM_177456.2	NP_803251.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	591										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ctcatcctcACCCTTGTCCTC	0.527000													7	3					0	0	1	0	0
SLC38A10	124565	broad.mit.edu	37	17	79225352	79225352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79225352G>A	ENST00000374759.3	-	14	2389	c.2006C>T	c.(2005-2007)cCt>cTt	p.P669L	SLC38A10_ENST00000288439.5_Missense_Mutation_p.P669L	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	669					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTGCTCGCGAGGCTCGGGCGG	0.692000													19	14					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6077561	6077561	+	Silent	SNP	C	C	T	rs34569233	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:6077561C>T	ENST00000217289.4	-	8	1865	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	FERMT1_ENST00000536936.1_Silent_p.A102A	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	359	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AAAGGCTGTCCGCTTTTCCAC	0.403000													36	146					0	0	1	0	0
ZNF497	162968	broad.mit.edu	37	19	58868095	58868095	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:58868095G>T	ENST00000311044.3	-	3	1095	c.907C>A	c.(907-909)Ccc>Acc	p.P303T	ZNF497_ENST00000425453.3_Missense_Mutation_p.P303T|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TCGGCGCAGGGGAAGGGCTTC	0.721000													5	6					0.014758	0.0147742	1	1	0
SREBF2	6721	broad.mit.edu	37	22	42267008	42267008	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:42267008C>T	ENST00000361204.4	+	4	1002	c.836C>T	c.(835-837)aCc>aTc	p.T279I		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	279	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCCCTCACCACCCCTATCCAG	0.562000													34	90					0	0	1	0	0
SCARA3	51435	broad.mit.edu	37	8	27516389	27516389	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:27516389C>T	ENST00000301904.3	+	5	722	c.702C>T	c.(700-702)atC>atT	p.I234I	SCARA3_ENST00000337221.4_Silent_p.I234I	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	234					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		CCGAGTGGATCCACGGGATCC	0.597000													17	28					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2044139	2044139	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2044139C>T	ENST00000262113.4	+	18	2319	c.2178C>T	c.(2176-2178)tcC>tcT	p.S726S	MYOM2_ENST00000523438.1_Silent_p.S151S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	726	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACGGCCACTCCATGACCCTCG	0.587000													68	62					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211317	64211317	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:64211317G>A	ENST00000262150.2	-	7	1397	c.1105C>T	c.(1105-1107)Ctt>Ttt	p.L369F	CDH19_ENST00000540086.1_Missense_Mutation_p.L369F	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	369	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AGGAGGAAAAGAGGAGGCTCA	0.438000													12	15					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23897768	23897768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:23897768C>T	ENST00000355349.3	-	15	1681	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	507	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AATGTCCACTCGATGCCCTCC	0.527000													25	70					0	0	1	0	0
OR10S1	219873	broad.mit.edu	37	11	123848249	123848249	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123848249G>A	ENST00000531945.1	-	1	239	c.150C>T	c.(148-150)atC>atT	p.I50I		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CAGCCACAGTGATGCTGTAGA	0.537000													7	12					0	0	1	0	0
NBEA	26960	broad.mit.edu	37	13	35644898	35644898	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:35644898C>T	ENST00000400445.3	+	10	2014	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	NBEA_ENST00000379939.2_Missense_Mutation_p.H494Y|NBEA_ENST00000310336.4_Missense_Mutation_p.H494Y|NBEA_ENST00000540320.1_Missense_Mutation_p.H494Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	494						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.H494Y(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAGTGCAATTCATTCAATTGG	0.333000													23	26					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10263382	10263382	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10263382T>C	ENST00000418404.3	-	6	703	c.540A>G	c.(538-540)gaA>gaG	p.E180E	MYH13_ENST00000570743.1_Silent_p.E180E|MYH13_ENST00000252172.4_Silent_p.E180E			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	180	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CAGCCCCGGATTCTCCGCTGC	0.483000													8	38					0	0	1	0	0
TPH2	121278	broad.mit.edu	37	12	72366380	72366380	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:72366380C>T	ENST00000333850.3	+	6	831	c.690C>T	c.(688-690)ctC>ctT	p.L230L		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	230					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCTCCAAACTCTATCCCACTC	0.468000													63	326					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7064763	7064763	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:7064763C>T	ENST00000299481.4	+	4	1852	c.1506C>T	c.(1504-1506)aaC>aaT	p.N502N		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	502					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGCTGGGAACCCTTCCTGCC	0.418000													15	73					0	0	1	0	0
OR2M2	391194	broad.mit.edu	37	1	248343914	248343914	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:248343914C>T	ENST00000359682.2	+	1	627	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGCTTGTTTTCCCTGTTGCAA	0.418000													36	193					0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7948224	7948224	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:7948224C>T	ENST00000380183.4	+	6	893	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	ALOX15B_ENST00000380173.2_Missense_Mutation_p.R252C|ALOX15B_ENST00000572022.1_Missense_Mutation_p.R252C|ALOX15B_ENST00000573359.1_Missense_Mutation_p.R252C	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	252	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGTCCTGATCCGCCGCTGTCA	0.612000													22	29					0	0	1	0	0
SPESP1	246777	broad.mit.edu	37	15	69238782	69238782	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:69238782G>A	ENST00000310673.3	+	2	1063	c.909G>A	c.(907-909)ctG>ctA	p.L303L	NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	303					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						TTAACATGCTGTGTAATTCTA	0.299000													31	29					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251886	25251886	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:25251886C>T	ENST00000328086.7	-	7	2958	c.2155G>A	c.(2155-2157)Gga>Aga	p.G719R		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	719					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TGTCTAATTCCTTGAAGATTT	0.443000													23	32					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176668303	176668303	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176668303C>A	ENST00000367662.3	+	8	3978	c.2814C>A	c.(2812-2814)taC>taA	p.Y938*		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	938					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCCACCTGTACCACATGAACA	0.587000													71	81					2.40041e-21	2.43019e-21	1	1	0
SLC6A8	6535	broad.mit.edu	37	X	152959618	152959618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:152959618C>T	ENST00000253122.5	+	9	1764	c.1288C>T	c.(1288-1290)Ctc>Ttc	p.L430F	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.L315F	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	430					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CACCGGCCTCCTCGACCTCCT	0.622000													53	2					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154492804	154492804	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154492804G>A	ENST00000368482.4	+	5	1004	c.166G>A	c.(166-168)Gac>Aac	p.D56N	TDRD10_ENST00000368480.3_Missense_Mutation_p.D56N	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	56	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTTCTAAAGGACTTCAACCC	0.433000													33	38					0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5372845	5372845	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5372845A>G	ENST00000380219.1	+	1	108	c.108A>G	c.(106-108)atA>atG	p.I36M	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTCCATACTTCTTGGCA	0.463000													26	33					0	0	1	0	0
NARG2	79664	broad.mit.edu	37	15	60745781	60745781	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:60745781G>A	ENST00000561114.1	-	9	1308	c.1146C>T	c.(1144-1146)ttC>ttT	p.F382F	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000261520.4_Intron	NM_001276385.1	NP_001263314.1	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	0						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						CCCCTTAGGGGAAAAAAAAAG	0.338000													21	33					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647579	20647579	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:20647579A>T	ENST00000272233.4	+	1	745	c.353A>T	c.(352-354)aAa>aTa	p.K118I		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	118					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GTGGCCAACAAAAAAGACCTG	0.637000													30	130					0	0	1	0	0
GJA8	2703	broad.mit.edu	37	1	147381033	147381033	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:147381033A>T	ENST00000240986.4	+	2	1004	c.951A>T	c.(949-951)caA>caT	p.Q317H	GJA8_ENST00000369235.1_Missense_Mutation_p.Q317H	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	317					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGGCTACCAAGAGACACTGC	0.627000													15	18					0	0	1	0	0
GALNT3	2591	broad.mit.edu	37	2	166606258	166606258	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:166606258G>A	ENST00000392701.3	-	10	2548	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	GALNT3_ENST00000409882.1_Silent_p.I329I	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	591	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GTACCTTCTGGATCTCCCATA	0.393000													47	82					0	0	1	0	0
CREBZF	58487	broad.mit.edu	37	11	85375667	85375667	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:85375667C>T	ENST00000527447.1	-	1	479	c.253G>A	c.(253-255)Gag>Aag	p.E85K	CREBZF_ENST00000398294.2_Missense_Mutation_p.E3K|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	85					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				ATCGCCTCCTCCTCCATCTCC	0.692000													45	64					0	0	1	0	0
NCOA7	135112	broad.mit.edu	37	6	126210093	126210093	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:126210093C>T	ENST00000368357.3	+	10	1245	c.893C>T	c.(892-894)cCt>cTt	p.P298L	NCOA7_ENST00000229634.9_Intron|NCOA7_ENST00000392477.2_Missense_Mutation_p.P298L	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	298					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGTGACCTACCTCAGGATCTT	0.408000													19	22					0	0	1	0	0
OR51B2	79345	broad.mit.edu	37	11	5344709	5344709	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5344709G>A	ENST00000328813.2	-	1	873	c.819C>T	c.(817-819)atC>atT	p.I273I	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTAACTCATGATAATGTGGA	0.378000													33	27					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31685475	31685475	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31685475G>A	ENST00000503322.1	+	6	1046	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	LY6G6D_ENST00000375825.3_Missense_Mutation_p.G99E|LY6G6F_ENST00000556581.1_Missense_Mutation_p.G348E																							TGCTACCTGGGAGACCTGTGC	0.607000													248	489					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39096236	39096236	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39096236G>A	ENST00000591517.1	-	18	1363	c.1335C>T	c.(1333-1335)acC>acT	p.T445T	MAP4K1_ENST00000423454.2_Silent_p.T107T|MAP4K1_ENST00000586296.1_Intron|MAP4K1_ENST00000589130.1_Silent_p.T441T|MAP4K1_ENST00000396857.2_Silent_p.T445T	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	445					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGGGGCTGCTGGTGGATGGGG	0.677000													3	3					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634416	70634416	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:70634416G>A	ENST00000381269.2	-	2	1477	c.724C>T	c.(724-726)Cca>Tca	p.P242S	SLC8A3_ENST00000356921.2_Missense_Mutation_p.P242S|SLC8A3_ENST00000534137.1_Missense_Mutation_p.P242S|SLC8A3_ENST00000357887.3_Missense_Mutation_p.P242S|SLC8A3_ENST00000528359.1_Missense_Mutation_p.P242S	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	242					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ACACACACTGGAAAGAAGAAG	0.478000													18	39					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31305297	31305297	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:31305297A>G	ENST00000265071.2	+	7	1281	c.1016A>G	c.(1015-1017)aAg>aGg	p.K339R	CDH6_ENST00000514738.1_Missense_Mutation_p.K284R	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	339	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GACTTTGAAAAGAAGAAAGTG	0.433000													59	22					0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944743	55944743	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55944743C>T	ENST00000312298.1	+	1	650	c.650C>T	c.(649-651)tCc>tTc	p.S217F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					GTGATCATTTCCTACATCTTC	0.488000													45	63					0	0	1	0	0
ZFP90	146198	broad.mit.edu	37	16	68598512	68598512	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:68598512C>T	ENST00000570495.1	+	5	2114	c.1822C>T	c.(1822-1824)Ccc>Tcc	p.P608S	RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Missense_Mutation_p.P608S|ZFP90_ENST00000398253.2_Missense_Mutation_p.P608S			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	608					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TGGAGAAAAACCCTATTCTTG	0.398000													27	55					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25479685	25479685	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:25479685T>A	ENST00000381884.4	-	7	2676	c.2491A>T	c.(2491-2493)Ata>Tta	p.I831L	CENPJ_ENST00000545981.1_Missense_Mutation_p.I831L	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	831					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGATACCTATTTCATTATTA	0.443000													23	22					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58135802	58135802	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58135802C>T	ENST00000257897.3	-	1	138	c.53G>A	c.(52-54)cGa>cAa	p.R18Q	TSPAN31_ENST00000553221.1_Intron	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	0	Interaction with EPB41L1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R18P(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CACCTCATGTCGTCTGACTTC	0.592000													45	66					0	0	1	0	0
PCDHGB7	56099	broad.mit.edu	37	5	140798557	140798557	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140798557G>A	ENST00000398594.2	+	1	1131	c.1131G>A	c.(1129-1131)ggG>ggA	p.G377G	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACTCAGGGGAAAATGGGG	0.448000													12	29					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13910401	13910401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:13910401C>T	ENST00000294489.6	+	1	442	c.101C>T	c.(100-102)cCc>cTc	p.P34L	PDPN_ENST00000376057.4_Missense_Mutation_p.P34L			Q86YL7	PDPN_HUMAN	podoplanin	0					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		GCTCCTGCTCCCACCCCTCCG	0.652000													11	30					0	0	1	0	0
WFIKKN2	124857	broad.mit.edu	37	17	48917409	48917409	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48917409G>A	ENST00000311378.4	+	2	1288	c.760G>A	c.(760-762)Gtc>Atc	p.V254I	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.V161I	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	254	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGAGAATGTGGTCATGCGGCC	0.597000													19	50					0	0	1	0	0
PCDHA13	56136	broad.mit.edu	37	5	140262210	140262210	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140262210G>A	ENST00000289272.2	+	1	357	c.357G>A	c.(355-357)gtG>gtA	p.V119V	PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.V119V|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCATGTGGAGGTGAAGG	0.537000													39	118					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649704	142649704	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142649704C>T	ENST00000355265.2	-	10	1569	c.1095G>A	c.(1093-1095)atG>atA	p.M365I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	365					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.M365I(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCTAAGATCATGTGGCTCT	0.527000													13	32					0	0	1	0	0
FAM47E-STBD1	100631383	broad.mit.edu	37	4	77230699	77230699	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:77230699G>A	ENST00000237642.6	+	2	1367	c.623G>A	c.(622-624)aGg>aAg	p.R208K	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.R59K	NM_003943.4	NP_003934.1																					ATGGTGCCTAGGCACTCATCT	0.498000													7	41					0	0	1	0	0
OR9A4	130075	broad.mit.edu	37	7	141618825	141618825	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141618825G>A	ENST00000548136.1	+	1	209	c.150G>A	c.(148-150)gtG>gtA	p.V50V	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					TTGTCTGTGTGGATAAACGTC	0.453000													34	126					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175355239	175355239	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:175355239C>T	ENST00000367674.1	-	8	2414	c.1706G>A	c.(1705-1707)cGa>cAa	p.R569Q	TNR_ENST00000263525.2_Missense_Mutation_p.R569Q	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	569	Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CACCTCGTATCGGGAGCCAGG	0.627000													22	78					0	0	1	0	0
UROS	7390	broad.mit.edu	37	10	127484704	127484704	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:127484704G>A	ENST00000368797.4	-	8	753	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	UROS_ENST00000462490.1_5'UTR|UROS_ENST00000368786.1_Nonsense_Mutation_p.Q177*	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	177					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				AGGTTCCCTTGGATTCCTGGG	0.557000													39	136					0	0	1	0	0
OR13G1	441933	broad.mit.edu	37	1	247836279	247836279	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247836279C>T	ENST00000359688.2	-	1	86	c.65G>A	c.(64-66)gGa>gAa	p.G22E	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGATAATTCCCTGGAGTTC	0.428000													28	30					0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121016577	121016577	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:121016577C>T	ENST00000392793.1	+	12	4128	c.3857C>T	c.(3856-3858)cCg>cTg	p.P1286L	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.P1286L			O75443	TECTA_HUMAN	tectorin alpha	1286	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GACCGCTGTCCGTCCTGTGCC	0.572000													25	31					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50553640	50553640	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50553640G>A	ENST00000262794.5	+	8	1307	c.1224G>A	c.(1222-1224)ggG>ggA	p.G408G	MOV10L1_ENST00000545383.1_Silent_p.G408G|MOV10L1_ENST00000395858.3_Silent_p.G408G|MOV10L1_ENST00000540615.1_Silent_p.G388G|MOV10L1_ENST00000395843.1_5'UTR	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	408					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCCCTCCAGGGGGAAAAACCT	0.493000													53	118					0	0	1	0	0
B3GAT1	27087	broad.mit.edu	37	11	134257515	134257515	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134257515G>A	ENST00000524765.1	-	2	4583	c.39C>T	c.(37-39)atC>atT	p.I13I	B3GAT1_ENST00000531510.1_5'UTR|B3GAT1_ENST00000392580.1_Silent_p.I13I|B3GAT1_ENST00000312527.4_Silent_p.I13I|B3GAT1_ENST00000537389.1_Silent_p.I26I			Q9P2W7	B3GA1_HUMAN	beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P)	13					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		AGGGCAGCACGATGAGGACGA	0.622000													16	24					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058254	11058254	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:11058254G>A	ENST00000470054.1	-	0	393									B melanoma antigen family, member 2															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)		CAAGGATAATGATACATCTGG	0.428000													7	96					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190347254	190347254	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:190347254G>A	ENST00000412504.2	+	8	1270	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	IL1RAP_ENST00000317757.3_Missense_Mutation_p.E340K|IL1RAP_ENST00000422485.1_Missense_Mutation_p.E340K|IL1RAP_ENST00000439062.1_Missense_Mutation_p.E340K|IL1RAP_ENST00000447382.1_Missense_Mutation_p.E340K|IL1RAP_ENST00000434491.1_Missense_Mutation_p.E199K|IL1RAP_ENST00000072516.3_Missense_Mutation_p.E340K|IL1RAP_ENST00000422940.1_Missense_Mutation_p.E340K|IL1RAP_ENST00000443369.2_Missense_Mutation_p.E340K			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	340	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		TGCCAAAGGCGAAGTTGCCAA	0.428000													6	18					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33941313	33941313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:33941313C>T	ENST00000389232.4	+	31	4089	c.4019C>T	c.(4018-4020)cCa>cTa	p.P1340L	RYR3_ENST00000415757.3_Missense_Mutation_p.P1340L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1340	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.P1340Q(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGACAGGATCCATCCTGTGTC	0.532000													114	81					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70956757	70956757	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70956757C>T	ENST00000334414.6	-	16	4079	c.4035G>A	c.(4033-4035)caG>caA	p.Q1345Q	PTPRB_ENST00000538708.1_Silent_p.Q1037Q|PTPRB_ENST00000451516.2_Silent_p.Q1037Q|PTPRB_ENST00000261266.5_Silent_p.Q1127Q|PTPRB_ENST00000551525.1_Silent_p.Q1344Q|PTPRB_ENST00000550857.1_Silent_p.Q1037Q|PTPRB_ENST00000550358.1_Silent_p.Q1257Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1127	Fibronectin type-III 15.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAGCTCTCTCCTGGAGATTCC	0.522000													13	54					0	0	1	0	0
PAPD4	167153	broad.mit.edu	37	5	78941001	78941001	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:78941001C>T	ENST00000453514.1	+	8	1500	c.807C>T	c.(805-807)ttC>ttT	p.F269F	PAPD4_ENST00000428308.2_Silent_p.F269F|PAPD4_ENST00000296783.3_Silent_p.F269F|PAPD4_ENST00000504233.1_Silent_p.F269F|PAPD4_ENST00000423041.2_Silent_p.F265F	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	269					histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		TTGTGAAGTTCAGGGATAAAG	0.333000													7	7					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411586	126411586	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:126411586C>T	ENST00000394329.3	+	17	13622	c.13609C>T	c.(13609-13611)Ccc>Tcc	p.P4537S	FAT4_ENST00000335110.5_Missense_Mutation_p.P2778S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4537					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGCCAAAAATCCCAAAGAGGA	0.532000													13	68					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118198915	118198915	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:118198915C>T	ENST00000425217.1	-	4	854	c.800G>A	c.(799-801)cGa>cAa	p.R267Q	KSR2_ENST00000339824.5_Missense_Mutation_p.R296Q	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	296	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATCAGTTTTCGGGAGGAGGG	0.662000													89	250					0	0	1	0	0
CYLC2	1539	broad.mit.edu	37	9	105767323	105767323	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:105767323G>A	ENST00000374798.3	+	5	480	c.410G>A	c.(409-411)gGa>gAa	p.G137E	CYLC2_ENST00000487798.1_Missense_Mutation_p.G137E	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	137	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TTAaaacaaggaaaaaaagat	0.328000													5	6					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99551716	99551716	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:99551716G>A	ENST00000373034.4	-	6	4681	c.3006C>T	c.(3004-3006)gtC>gtT	p.V1002V	PCDH19_ENST00000420881.2_Silent_p.V954V|PCDH19_ENST00000255531.7_Silent_p.V955V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1002					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CATAAGCCTCGACATCAGCAG	0.582000													17	15					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934527	28934527	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28934527G>A	ENST00000257192.4	+	15	2580	c.2368G>A	c.(2368-2370)Gag>Aag	p.E790K	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E149K	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	790					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.E790K(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCAGGAAACAGAGCCCGTTGT	0.507000													25	70					0	0	1	0	0
OR6M1	390261	broad.mit.edu	37	11	123676665	123676665	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123676665C>T	ENST00000309154.2	-	1	430	c.393G>A	c.(391-393)acG>acA	p.T131T		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T131T(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TCATGATGACCGTGTAGTGCA	0.517000													10	15					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023256	18023256	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:18023256C>T	ENST00000205890.5	+	2	1480	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	381	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GTCCCCTATGCCGAAGGCGTC	0.602000													30	75					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419137	27419137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:27419137G>A	ENST00000211936.6	-	6	2485	c.2201C>T	c.(2200-2202)tCc>tTc	p.S734F	ZNF184_ENST00000377419.1_Missense_Mutation_p.S734F	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATATCTGAAGGATTTTCCACA	0.383000													56	104					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249802	52249802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52249802G>A	ENST00000595042.1	-	3	587	c.446C>T	c.(445-447)cCc>cTc	p.P149L	FPR1_ENST00000304748.4_Missense_Mutation_p.P149L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	149					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CATCACCCAGGGCCCAATGAT	0.552000													35	40					0	0	1	0	0
C17orf103	256302	broad.mit.edu	37	17	21146704	21146704	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:21146704G>A	ENST00000399011.2	-	4	262	c.261C>T	c.(259-261)gcC>gcT	p.A87A	C17orf103_ENST00000468196.1_3'UTR	NM_152914.2	NP_690878.2	Q8N6N6	GTL3B_HUMAN	chromosome 17 open reading frame 103	88										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGTGAGATGGGCCTTCAGGT	0.657000													7	39					0	0	1	0	0
SDPR	8436	broad.mit.edu	37	2	192701074	192701074	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:192701074C>T	ENST00000304141.4	-	2	1182	c.853G>A	c.(853-855)Gga>Aga	p.G285R		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GAGCTTTTTCCTGAGGATATT	0.458000													49	143					0	0	1	0	0
CTAGE6	340307	broad.mit.edu	37	7	143453515	143453515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:143453515C>T	ENST00000470691.2	-	1	1274	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K		NM_178561.4	NP_848656.2			CTAGE family, member 6													Melanoma(164;0.0903)					AGCTTCTCTTCTTCCTCTATT	0.378000													23	168					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26502023	26502023	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26502023G>A	ENST00000244513.6	+	2	351	c.285G>A	c.(283-285)gcG>gcA	p.A95A		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	95	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GCGGGCGGGCGACGCTGGTCC	0.662000													12	39					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121256123	121256123	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:121256123G>A	ENST00000297848.3	+	20	2625	c.2355G>A	c.(2353-2355)atG>atA	p.M785I	COL14A1_ENST00000247781.3_Missense_Mutation_p.M690I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.M785I	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	785	Fibronectin type-III 6.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCAGGTTATGGTGCCTGGAA	0.438000													61	180					0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2293603	2293603	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:2293603C>T	ENST00000381458.5	+	5	663	c.600C>T	c.(598-600)cgC>cgT	p.R200R		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	200					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TGAATTTCCGCCGTGACGCTG	0.463000													17	87					0	0	1	0	0
C10orf12	26148	broad.mit.edu	37	10	98743002	98743002	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:98743002C>T	ENST00000286067.2	+	1	1962	c.1855C>T	c.(1855-1857)Ccc>Tcc	p.P619S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	619										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGAGATTTTCCCCAGCAGGGA	0.502000													28	64					0	0	1	0	0
OR1F2P	26184	broad.mit.edu	37	16	3266145	3266145	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:3266145G>A	ENST00000576468.1	+	0	418																											CATCTTCTGCGATGTGACTCC	0.522000													11	17					0	0	1	0	0
GLB1L3	112937	broad.mit.edu	37	11	134151287	134151287	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:134151287C>T	ENST00000389887.5	+	4	2875	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	GLB1L3_ENST00000431683.2_Silent_p.L127L			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	127					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		TCCGTGGAACCTGCATGAGCC	0.493000													34	62					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83129300	83129300	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:83129300C>T	ENST00000329312.4	+	4	1621	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	528					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATGAATCTTCCAAGACAGGCT	0.353000													4	6					0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538393	1538393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:1538393C>T	ENST00000263071.4	-	11	2201	c.2152G>A	c.(2152-2154)Ggc>Agc	p.G718S	SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.G632S	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	718	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGCCTGGCCTTTCTGGAAG	0.637000													22	25					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13418659	13418659	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:13418659G>A	ENST00000360228.5	-	15	1922	c.1923C>T	c.(1921-1923)ttC>ttT	p.F641F	CACNA1A_ENST00000573710.2_Silent_p.F642F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	642					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TCCCTTCATCGAAATTAAACC	0.547000													41	50					0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690287	99690287	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:99690287C>T	ENST00000524871.1	+	4	358	c.68C>T	c.(67-69)tCt>tTt	p.S23F	CNTN5_ENST00000279463.3_Missense_Mutation_p.S23F|CNTN5_ENST00000527185.1_Missense_Mutation_p.S23F|CNTN5_ENST00000528682.1_Missense_Mutation_p.S23F|CNTN5_ENST00000418526.2_Intron	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	23			S -> A (in dbSNP:rs10790978).		cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TATTCAAAATCTCTTCCTGGT	0.323000													7	37					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61378629	61378629	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:61378629G>A	ENST00000544088.1	+	0	290				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.?(1)		breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTCACCTAAGGTATGATAATA	0.368000													28	36					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170103275	170103275	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:170103275G>A	ENST00000263816.3	-	21	3415	c.3130C>T	c.(3130-3132)Ctc>Ttc	p.L1044F	LRP2_ENST00000443831.1_Missense_Mutation_p.L907F	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1044	LDL-receptor class A 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCACAGAGATAGTAATTG	0.458000													39	96					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10399779	10399779	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10399779C>T	ENST00000226207.5	-	34	4838	c.4744G>A	c.(4744-4746)Gaa>Aaa	p.E1582K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1582						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATCTTTTTCAGCAATTTTC	0.448000													28	98					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31964213	31964213	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:31964213C>T	ENST00000428956.2	+	28	3596	c.3512C>T	c.(3511-3513)tCc>tTc	p.S1171F	C4A_ENST00000498271.1_Missense_Mutation_p.S1171F	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		CAGGAAGCCTCCATCTCAAAG	0.597000													25	153					0	0	1	0	0
ANXA4	307	broad.mit.edu	37	2	70037755	70037755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:70037755C>T	ENST00000394295.4	+	7	675	c.427C>T	c.(427-429)Cgc>Tgc	p.R143C	ANXA4_ENST00000409920.1_Missense_Mutation_p.R121C|ANXA4_ENST00000536030.1_Missense_Mutation_p.R59C	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	141					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AGATGACATTCGCTCTGACAC	0.488000													12	82					0	0	1	0	0
DCDC2B	149069	broad.mit.edu	37	1	32676890	32676890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:32676890G>A	ENST00000409358.1	+	2	284	c.284G>A	c.(283-285)gGg>gAg	p.G95E		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	95					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCCCATAGAGGGAAGGACCCA	0.567000													10	4					0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169889141	169889141	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:169889141A>G	ENST00000497658.1	-	4	451	c.434T>C	c.(433-435)tTt>tCt	p.F145S	PHC3_ENST00000481639.1_Missense_Mutation_p.F141S|PHC3_ENST00000467570.1_Intron|PHC3_ENST00000494943.1_Intron|PHC3_ENST00000474275.1_Intron|PHC3_ENST00000495893.1_Intron			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	781	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATCCAGGAAAAAAAAATTTAG	0.338000													4	7					0	0	1	0	0
CHP2	63928	broad.mit.edu	37	16	23768865	23768865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:23768865G>A	ENST00000300113.2	+	7	975	c.552G>A	c.(550-552)atG>atA	p.M184I		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	184	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TAGAGAAGATGGACGTTGAGC	0.517000													26	76					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54604108	54604108	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:54604108G>A	ENST00000474759.1	+	8	913	c.865G>A	c.(865-867)Gat>Aat	p.D289N	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.D289N|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.D289N|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.D195N	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	289	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACTTGGGGATGATGACTTCTT	0.443000													64	103					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76134513	76134513	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:76134513C>T	ENST00000318430.5	+	13	1991	c.1617C>T	c.(1615-1617)ctC>ctT	p.L539L	TMC8_ENST00000591144.1_3'UTR|TMC8_ENST00000589691.1_Silent_p.L316L	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	539						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TAGTGCTCCTCCTGGGCCTGC	0.637000													58	71					0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594723	55594723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55594723C>T	ENST00000378397.1	+	1	29	c.29C>T	c.(28-30)gCt>gTt	p.A10V		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				ACCACTGTGGCTGAGTTCATT	0.413000										HNSCC(27;0.073)			92	112					0	0	1	0	0
PLCL2	23228	broad.mit.edu	37	3	17053522	17053522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:17053522C>T	ENST00000418129.2	+	2	2771	c.2306C>T	c.(2305-2307)tCt>tTt	p.S769F	PLCL2_ENST00000396755.2_Missense_Mutation_p.S769F|PLCL2_ENST00000432376.1_Missense_Mutation_p.S769F	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	895	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AGGGGCCTTTCTGTGAGAAAA	0.463000													25	59					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112070428	112070428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:112070428C>T	ENST00000357685.5	+	6	878	c.743C>T	c.(742-744)tCc>tTc	p.S248F	BCO2_ENST00000393032.2_Missense_Mutation_p.S214F|BCO2_ENST00000526088.1_Missense_Mutation_p.S214F|BCO2_ENST00000438022.1_Missense_Mutation_p.S214F|BCO2_ENST00000531169.1_Missense_Mutation_p.S214F|BCO2_ENST00000361053.4_Missense_Mutation_p.S175F|BCO2_ENST00000532593.1_Missense_Mutation_p.S143F|SDHD_ENST00000532612.1_3'UTR			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	248					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						TCAGGTTTCTCCTATAAGGTT	0.398000													17	29					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42287016	42287016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42287016G>A	ENST00000302904.4	-	16	2204	c.1712C>T	c.(1711-1713)cCc>cTc	p.P571L	UBTF_ENST00000533177.1_Missense_Mutation_p.P534L|UBTF_ENST00000436088.1_Missense_Mutation_p.P571L|UBTF_ENST00000529383.1_Missense_Mutation_p.P571L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.P534L|UBTF_ENST00000527034.1_Missense_Mutation_p.P534L|UBTF_ENST00000393606.3_Missense_Mutation_p.P534L|UBTF_ENST00000343638.5_Missense_Mutation_p.P534L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	571					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GGCTCACATGGGAGGCTTCTT	0.582000													12	40					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108124234	108124234	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:108124234C>T	ENST00000273353.3	-	34	4803	c.4747G>A	c.(4747-4749)Gaa>Aaa	p.E1583K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1583						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1583K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTTTCAAGTTCTGCTTTAGCT	0.318000													5	18					0	0	1	0	0
HS3ST6	64711	broad.mit.edu	37	16	1961845	1961845	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:1961845C>T	ENST00000454677.2	-	2	891	c.826G>A	c.(826-828)Gag>Aag	p.E276K	HS3ST6_ENST00000293937.3_Missense_Mutation_p.E259K|HS3ST6_ENST00000443547.1_Missense_Mutation_p.E228K			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	228										endometrium(2)|lung(2)	4						CGGCCGACCTCTCCGGCCGGG	0.657000													23	61					0	0	1	0	0
SELE	6401	broad.mit.edu	37	1	169696888	169696888	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:169696888G>A	ENST00000333360.7	-	9	1599	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	SELE_ENST00000367774.1_Intron|SELE_ENST00000367779.4_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.S362F|SELE_ENST00000367776.1_Missense_Mutation_p.S424F|SELE_ENST00000367782.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.S424F|SELE_ENST00000367780.4_Missense_Mutation_p.S362F|SELE_ENST00000367777.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	487	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTGGCAGGAAGGAACCTC	0.438000													62	91					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435502	18435502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:18435502G>A	ENST00000433979.1	+	2	603	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000266497.5_Missense_Mutation_p.E163K|PIK3C2G_ENST00000535651.1_Missense_Mutation_p.E163K|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.E163K	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	163					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTAGAAAATGAAAATCATAA	0.338000													14	54					0	0	1	0	0
KIF26A	26153	broad.mit.edu	37	14	104618511	104618511	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:104618511G>A	ENST00000315264.7	+	2	409	c.31G>A	c.(31-33)Gag>Aag	p.E11K	KIF26A_ENST00000423312.2_Missense_Mutation_p.E150K			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	150					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGCCAGCCATGAGGACCTTGA	0.711000													5	6					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891737	6891737	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6891737C>T	ENST00000307322.4	+	1	814	c.752C>T	c.(751-753)tCa>tTa	p.S251L		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGGCCTAAATCAAATAATTCA	0.418000													59	68					0	0	1	0	0
UBQLN1	29979	broad.mit.edu	37	9	86279949	86279949	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:86279949G>A	ENST00000376395.4	-	9	1967	c.1444C>T	c.(1444-1446)Cca>Tca	p.P482S	UBQLN1_ENST00000257468.7_Missense_Mutation_p.P454S	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	482					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						GCCTACCCTGGGATGAGGCCC	0.408000													11	13					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41038977	41038977	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:41038977C>T	ENST00000399564.4	-	21	2525	c.2075G>A	c.(2074-2076)gGg>gAg	p.G692E	MROH2B_ENST00000506092.2_Missense_Mutation_p.G247E	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GCTCTTTTTCCCAGAAAAAAG	0.438000													26	16					0	0	1	0	0
OR2J3	442186	broad.mit.edu	37	6	29079863	29079863	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29079863C>T	ENST00000377169.1	+	1	196	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GTACTTCTTCCTTTCAAACCT	0.473000													73	148					0	0	1	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955401	18955401	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:18955401C>T	ENST00000302797.3	-	1	1155	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	311				EEI -> QET (in Ref. 2; AAL86880).	acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCAGGATTTCCTCAGGAAGC	0.567000													21	42					0	0	1	0	0
KRT76	51350	broad.mit.edu	37	12	53165938	53165938	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53165938G>A	ENST00000332411.2	-	5	1130	c.1077C>T	c.(1075-1077)gcC>gcT	p.A359A		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	359	Coil 2.|Rod.		A -> T (in dbSNP:rs6580904).		cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCTCATACTGGGCGCGGACCT	0.582000													24	2					0	0	1	0	0
DSC2	1824	broad.mit.edu	37	18	28654727	28654727	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:28654727G>A	ENST00000280904.6	-	12	2253	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	DSC2_ENST00000251081.6_Missense_Mutation_p.H604Y	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	604	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GGTGGGCCATGGATAGGCTCA	0.413000													5	22					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38049839	38049839	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:38049839C>T	ENST00000599616.1	+	15	1460	c.1460C>T	c.(1459-1461)cCc>cTc	p.P487L	Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.P551L			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	551					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					ACCAGGAGTCCCCCGGAGACA	0.662000													11	15					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76744384	76744384	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76744384C>T	ENST00000369963.3	-	2	377	c.188G>A	c.(187-189)gGa>gAa	p.G63E	IMPG1_ENST00000369950.3_Missense_Mutation_p.G141E			Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	141					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	p.G141E(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAAGTTTTTTCCAATGTCAAA	0.507000													25	28					0	0	1	0	0
PRSS38	339501	broad.mit.edu	37	1	228033810	228033810	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:228033810C>A	ENST00000366757.3	+	5	906	c.882C>A	c.(880-882)atC>atA	p.I294I		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	294					proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACATAGAAATCACGCCCACTC	0.557000													50	32					1.61004e-24	1.63152e-24	1	1	0
RIMBP2	23504	broad.mit.edu	37	12	130929739	130929739	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130929739G>A	ENST00000261655.4	-	7	769	c.606C>T	c.(604-606)gtC>gtT	p.V202V	RIMBP2_ENST00000536002.1_Silent_p.V110V|RIMBP2_ENST00000535703.1_Silent_p.V110V	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	202	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTCTCCATAGACGTAGAGGT	0.557000													41	74					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104054052	104054052	+	Splice_Site	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:104054052T>C	ENST00000265148.3	-	42	6811	c.6720_splice	c.e42-1	p.E2241_splice	CENPE_ENST00000380026.3_Splice_Site_p.E2120_splice	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2241	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTTGAGAATTTCCTGTGTGAA	0.254000													45	87					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115102181	115102181	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:115102181G>A	ENST00000542447.2	-	4	582	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	CADM1_ENST00000536727.1_Nonsense_Mutation_p.Q152*|CADM1_ENST00000537058.1_Nonsense_Mutation_p.Q152*|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000331581.6_Nonsense_Mutation_p.Q152*|CADM1_ENST00000452722.2_Nonsense_Mutation_p.Q152*	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	152	Ig-like C2-type 1.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTGTCTTTCTGGATATCGATC	0.428000													38	7					0	0	1	0	0
PRKAR1B	5575	broad.mit.edu	37	7	750996	750996	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:750996G>A	ENST00000406797.1	-	2	321	c.147C>T	c.(145-147)ttC>ttT	p.F49F	PRKAR1B_ENST00000360274.4_Silent_p.F49F|PRKAR1B_ENST00000403562.1_Silent_p.F49F|PRKAR1B_ENST00000537384.1_Silent_p.F49F|PRKAR1B_ENST00000544935.1_Silent_p.F49F|PRKAR1B_ENST00000488474.1_5'UTR	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	49	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GCTCCCGGAGGAACTTCATGG	0.647000													16	124					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140450030	140450030	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140450030C>T	ENST00000277540.2	-	9	1177	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		GCAGCCAGGACCAGTCGGCTC	0.602000													18	26					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139368623	139368623	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:139368623G>A	ENST00000313050.7	-	1	3518	c.3445C>T	c.(3445-3447)Ccc>Tcc	p.P1149S	SEC16A_ENST00000371706.3_Missense_Mutation_p.P971S|SEC16A_ENST00000290037.6_Missense_Mutation_p.P971S|SEC16A_ENST00000431893.2_Missense_Mutation_p.P971S	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	971	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGTGGGCCGGGGGCAAGTGCA	0.657000													6	13					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122805454	122805454	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:122805454C>T	ENST00000227349.2	+	5	1602	c.1305C>T	c.(1303-1305)ctC>ctT	p.L435L	C11orf63_ENST00000531316.1_Silent_p.L435L	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	435										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCCACAATCTCAAAGAAACCT	0.398000													23	4					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65180720	65180720	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:65180720G>A	ENST00000310045.7	-	2	2629	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	376						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)				GCAGTTGAAGGAACCATCGGT	0.443000													18	24					0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44228420	44228420	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:44228420C>T	ENST00000395673.3	+	10	1728	c.1672C>T	c.(1672-1674)Cct>Tct	p.P558S	EXT2_ENST00000343631.3_Missense_Mutation_p.P525S|EXT2_ENST00000358681.4_Missense_Mutation_p.P535S|EXT2_ENST00000533608.1_Missense_Mutation_p.P525S	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	525					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCGTTTCTTCCCTTATGATGA	0.408000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				19	73					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39140590	39140590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:39140590G>A	ENST00000297668.6	-	12	1875	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.P513L|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.P508L|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.P601L|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.P601L	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	601	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAGCCCAGACGGGTTCCCTCG	0.458000													35	4					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121381701	121381701	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:121381701C>T	ENST00000297848.3	+	47	5558	c.5288C>T	c.(5287-5289)tCa>tTa	p.S1763L	COL14A1_ENST00000247781.3_Missense_Mutation_p.S1668L|COL14A1_ENST00000309791.4_Missense_Mutation_p.S1763L	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1763	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACCCCTCATCATGTTCTGCC	0.532000													58	35					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116424210	116424210	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:116424210G>A	ENST00000281928.3	-	19	4405	c.4199C>T	c.(4198-4200)tCc>tTc	p.S1400F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1400	Leucine-zipper.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AAACGGCAAGGAGAATGGCGA	0.512000													37	33					0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115767064	115767064	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:115767064G>A	ENST00000264363.2	-	10	2708	c.2030C>T	c.(2029-2031)cCa>cTa	p.P677L		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	677	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGCTCGTCTTGGAGCTTCTTC	0.453000													59	45					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181727217	181727217	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181727217C>T	ENST00000526775.1	+	30	4572	c.4407C>T	c.(4405-4407)atC>atT	p.I1469I	CACNA1E_ENST00000367567.4_Silent_p.I1095I|CACNA1E_ENST00000367570.1_Silent_p.I1488I|CACNA1E_ENST00000367573.2_Silent_p.I1488I|CACNA1E_ENST00000357570.5_Silent_p.I1439I|CACNA1E_ENST00000360108.3_Silent_p.I1469I|CACNA1E_ENST00000358338.5_Silent_p.I1420I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1488					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGCCATGATCGCCTTGAATA	0.557000													20	69					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24342868	24342868	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:24342868C>T	ENST00000175238.6	+	10	1037	c.954C>T	c.(952-954)atC>atT	p.I318I	ADAM7_ENST00000380789.1_Silent_p.I318I|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Silent_p.I90I|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	318	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCACCAGTATCATTAAGGTGG	0.363000													5	55					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697617	17697617	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:17697617G>A	ENST00000399080.2	-	1	2089	c.2066C>T	c.(2065-2067)cCc>cTc	p.P689L		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	689										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CATTAAAAGGGGAATTTTTTC	0.294000													11	63					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92534801	92534801	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:92534801G>A	ENST00000298047.6	+	9	8639	c.8622G>A	c.(8620-8622)tgG>tgA	p.W2874*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.W2874*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.W2724*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2874	Cadherin 26.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.W2874C(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACACGGGCTGGATCAGTACCT	0.527000										TCGA Ovarian(4;0.039)			103	369					0	0	1	0	0
ABCC11	85320	broad.mit.edu	37	16	48227885	48227885	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:48227885C>T	ENST00000394747.1	-	18	2762	c.2413G>A	c.(2413-2415)Gtc>Atc	p.V805I	ABCC11_ENST00000356608.2_Missense_Mutation_p.V805I|ABCC11_ENST00000353782.5_Missense_Mutation_p.V805I|ABCC11_ENST00000394748.1_Missense_Mutation_p.V805I|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	805						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGCAAGAGACCATGTAACCT	0.532000													10	14					0	0	1	0	0
MYCBPAP	84073	broad.mit.edu	37	17	48606545	48606545	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48606545G>A	ENST00000323776.5	+	18	3011	c.2849G>A	c.(2848-2850)aGt>aAt	p.S950N	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.S913N	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	MYCBP associated protein	913					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AGCCTGCACAGTGAGGTGAAG	0.542000													6	31					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55148333	55148333	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:55148333G>A	ENST00000414150.2	+	14	2664	c.2386G>A	c.(2386-2388)Gga>Aga	p.G796R	MROH7_ENST00000545244.1_Missense_Mutation_p.G364R|MROH7_ENST00000454855.2_Missense_Mutation_p.G314R|MROH7_ENST00000409996.1_Missense_Mutation_p.G364R|MROH7_ENST00000395690.2_Missense_Mutation_p.G796R|MROH7_ENST00000421030.2_Missense_Mutation_p.G796R|MROH7_ENST00000339553.5_Missense_Mutation_p.G796R					maestro heat-like repeat family member 7																		TCTCAGCAATGGAGCAGAGAT	0.572000													30	30					0	0	1	0	0
LRRIQ1	84125	broad.mit.edu	37	12	85460562	85460562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:85460562G>A	ENST00000393217.2	+	10	2642	c.2581G>A	c.(2581-2583)Gaa>Aaa	p.E861K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	861										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TGAAAATTTGGAAAATCTCTG	0.294000													8	39					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21230373	21230373	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21230373G>A	ENST00000233242.1	-	26	9494	c.9367C>T	c.(9367-9369)Ctg>Ttg	p.L3123L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3123					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGAAATCCAGATTTGCTTCT	0.368000													626	199					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49442532	49442532	+	Silent	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:49442532A>C	ENST00000301067.7	-	13	4040	c.4041T>G	c.(4039-4041)tcT>tcG	p.S1347S		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCTTACTGGGAGAGCTATCAA	0.473000													44	119					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75090992	75090992	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:75090992C>T	ENST00000310715.3	-	9	1050	c.930G>A	c.(928-930)gaG>gaA	p.E310E	TTC18_ENST00000394865.1_Silent_p.E310E|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000493787.1_5'UTR|TTC18_ENST00000401621.2_Silent_p.E310E	NM_145170.3	NP_660153.3	Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	310							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CTCTTGTGATCTCTACAGGCC	0.368000													7	19					0	0	1	0	0
FAM213B	127281	broad.mit.edu	37	1	2520012	2520012	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:2520012G>A	ENST00000378424.4	+	5	568	c.552G>A	c.(550-552)ggG>ggA	p.G184G	FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000537325.1_Intron|FAM213B_ENST00000444521.2_Silent_p.G154G|FAM213B_ENST00000419916.2_Silent_p.G166G|FAM213B_ENST00000378425.5_Silent_p.G136G			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	136					prostaglandin biosynthetic process	cytosol	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor										GCATCCAGGGGAACTTGTCTG	0.642000													130	19					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205221	61205221	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61205221C>T	ENST00000301761.2	+	2	235	c.161C>T	c.(160-162)cCa>cTa	p.P54L	SDHAF2_ENST00000537782.1_Missense_Mutation_p.P54L|SDHAF2_ENST00000534878.1_Missense_Mutation_p.P54L|SDHAF2_ENST00000543265.1_Missense_Mutation_p.P54L|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.P42L|RP11-286N22.8_ENST00000544880.1_3'UTR	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	54					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CCTTTGCCTCCATGGCAGGAG	0.463000													32	115					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996136	140996136	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:140996136C>T	ENST00000285879.4	+	4	3232	c.2946C>T	c.(2944-2946)ctC>ctT	p.L982L	MAGEC1_ENST00000406005.2_Silent_p.L49L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	982	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CATTAGACCTCACCTCTGAGG	0.473000										HNSCC(15;0.026)			110	3					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2776459	2776459	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:2776459G>A	ENST00000380605.2	-	11	1570	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	502					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						AGGACACCACGAGCTCACCCC	0.607000													22	73					0	0	1	0	0
KLK8	11202	broad.mit.edu	37	19	51503756	51503756	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51503756G>A	ENST00000600767.1	-	4	643	c.154C>T	c.(154-156)Cag>Tag	p.Q52*	KLK8_ENST00000593490.1_Intron|KLK8_ENST00000347619.4_Intron|KLK8_ENST00000320838.5_Intron|KLK8_ENST00000391806.2_Nonsense_Mutation_p.Q97*|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000291726.7_Nonsense_Mutation_p.Q52*			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	52	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TGCTGGCCCTGGAACAAGGCC	0.607000													28	47					0	0	1	0	0
CSAD	51380	broad.mit.edu	37	12	53566324	53566324	+	Missense_Mutation	SNP	G	G	A	rs149962027		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:53566324G>A	ENST00000267085.4	-	5	549	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	CSAD_ENST00000491654.1_5'UTR|CSAD_ENST00000542115.1_Missense_Mutation_p.R79C|CSAD_ENST00000453446.2_Missense_Mutation_p.R79C|CSAD_ENST00000379846.1_Intron|CSAD_ENST00000444623.1_Missense_Mutation_p.R79C|CSAD_ENST00000379843.3_Intron	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	79					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	ACACTGTAGCGAATCACAGCC	0.592000													10	24					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517463	195517463	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:195517463C>T	ENST00000463781.3	-	2	1447	c.988G>A	c.(988-990)Gtg>Atg	p.V330M	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V330M	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	335					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)		GTGGTCTCCACGCTCTGAGTC	0.453000													37	159					0	0	1	0	0
ZSCAN30	100101467	broad.mit.edu	37	18	32834140	32834140	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:32834140C>T	ENST00000420878.3	-	5	1214	c.759G>A	c.(757-759)caG>caA	p.Q253Q	ZSCAN30_ENST00000333206.5_Silent_p.Q253Q|ZNF397_ENST00000589420.1_Intron|ZNF397_ENST00000261333.6_Intron|ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron	NM_001166012.1	NP_001159484.1	Q86W11	ZSC30_HUMAN	zinc finger and SCAN domain containing 30	253					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|lung(3)|urinary_tract(1)	9						AATGTCTGTCCTGGGAAGGAA	0.448000													33	69					0	0	1	0	0
BCL11A	53335	broad.mit.edu	37	2	60773370	60773370	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:60773370C>T	ENST00000335712.6	-	2	348	c.121G>A	c.(121-123)Ggg>Agg	p.G41R	BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000358510.4_Missense_Mutation_p.G41R|BCL11A_ENST00000359629.5_Missense_Mutation_p.G41R|BCL11A_ENST00000356842.4_Missense_Mutation_p.G41R|BCL11A_ENST00000538214.1_Missense_Mutation_p.G41R	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	41	Required for nuclear body formation and for SUMO1 recruitment (By similarity).				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCATGATCCCCTTCTGGAGCT	0.493000			T	IGH@	B-CLL								102	839					0	0	1	0	0
OR51B4	79339	broad.mit.edu	37	11	5322321	5322321	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5322321G>A	ENST00000380224.1	-	1	905	c.856C>T	c.(856-858)Cct>Tct	p.P286S	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAATGATAGGATTCACGAAT	0.428000													13	36					0	0	1	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52003319	52003319	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:52003319G>A	ENST00000291707.3	-	2	718	c.663C>T	c.(661-663)ctC>ctT	p.L221L	SIGLEC12_ENST00000598614.1_Silent_p.L103L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	221	Ig-like V-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCCCAAGGAGGAGGAATCGAC	0.542000													46	60					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531530	42531530	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:42531530C>T	ENST00000282030.5	+	4	2521	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	742						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TCCGAAGAACCCAAAACAGCC	0.562000									Schinzel-Giedion syndrome				7	1					0	0	1	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377373	18377373	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:18377373G>A	ENST00000392413.3	-	3	1192	c.977C>T	c.(976-978)cCc>cTc	p.P326L	KIAA1683_ENST00000600359.2_Missense_Mutation_p.P280L|KIAA1683_ENST00000600328.2_Missense_Mutation_p.P326L	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	326						mitochondrion		p.P326L(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TATCTGGAAGGGGGCTTTGGG	0.567000													34	47					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58450426	58450426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58450426C>T	ENST00000357552.3	-	34	3474	c.3249G>A	c.(3247-3249)tgG>tgA	p.W1083*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.W1083*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1083					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			ATGAGTTTTTCCATTGTTTTG	0.368000													9	57					0	0	1	0	0
OOEP	441161	broad.mit.edu	37	6	74079008	74079008	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:74079008G>A	ENST00000370363.1	-	3	618	c.126C>T	c.(124-126)ttC>ttT	p.F42F	OOEP_ENST00000370359.5_Silent_p.F97F			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	97						cytoplasm		p.F97F(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGCCGCCCGAAAACGGTGA	0.567000													9	17					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144942577	144942577	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:144942577G>A	ENST00000525985.1	-	2	4916	c.4845C>T	c.(4843-4845)atC>atT	p.I1615I				P58107	EPIPL_HUMAN	epiplakin 1	1615						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCACGGGGTCGATGATGAAGC	0.632000													28	12					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	130185060	130185060	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:130185060C>T	ENST00000422113.2	-	2	589	c.263G>A	c.(262-264)aGg>aAg	p.R88K		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	88						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGGCAGCCTCCTGGATTTGTA	0.532000													11	40					0	0	1	0	0
IMPG1	3617	broad.mit.edu	37	6	76751656	76751656	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:76751656G>A	ENST00000369950.3	-	2	444	c.255C>T	c.(253-255)tcC>tcT	p.S85S	IMPG1_ENST00000369963.3_Intron	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	85					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTGTTTCATGGATTCCTGTG	0.388000													14	22					0	0	1	0	0
EDN2	1907	broad.mit.edu	37	1	41948231	41948231	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:41948231G>A	ENST00000372587.4	-	3	319	c.250C>T	c.(250-252)Ccg>Tcg	p.P84S	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	84					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTCTTGGCGGGTTTCCCAGG	0.617000													39	3					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179404579	179404579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179404579C>T	ENST00000589042.1	-	352	98437	c.98213G>A	c.(98212-98214)tGg>tAg	p.W32738*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W30170*|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W23673*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W23798*|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W23865*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W31097*|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31097	Ig-like 145.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTGGTCCATTTACATAT	0.433000													36	21					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238287747	238287747	+	Missense_Mutation	SNP	G	G	A	rs137923508		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238287747G>A	ENST00000295550.4	-	6	2481	c.2029C>T	c.(2029-2031)Cgt>Tgt	p.R677C	COL6A3_ENST00000392004.3_Missense_Mutation_p.R471C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R471C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R471C|COL6A3_ENST00000347401.3_Missense_Mutation_p.R476C|COL6A3_ENST00000392003.2_Missense_Mutation_p.R270C|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000472056.1_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	677	Nonhelical region.|VWFA 4.		R -> H (in BM; uncertain pathogenicity; dbSNP:rs35227432).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAACCAACACGAATATTGTCA	0.413000													9	24					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135440219	135440219	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:135440219G>A	ENST00000443774.1	-	1	77	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	FRG2B_ENST00000425520.1_Missense_Mutation_p.L10F			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	10						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GAGCAGTGGAGATCGGGGTCT	0.502000													52	264					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3214318	3214318	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3214318G>A	ENST00000573491.1	-	0	359				OR3A4P_ENST00000323164.4_RNA																							AGGGCAGAAAGAAAGCCTTCT	0.577000													48	69					0	0	1	0	0
MARS	4141	broad.mit.edu	37	12	57884324	57884324	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57884324G>A	ENST00000262027.5	+	7	801	c.667G>A	c.(667-669)Gag>Aag	p.E223K	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_5'UTR	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	223					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TTTATAGGAGGAGGAGCTGGC	0.537000													24	108					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72119267	72119267	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72119267G>A	ENST00000356056.5	-	42	7773	c.7301C>T	c.(7300-7302)tCc>tTc	p.S2434F	MYO9A_ENST00000564571.1_3'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.S2505F|MYO9A_ENST00000444904.1_Missense_Mutation_p.S2415F	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2434	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACATAAAGAGGAGACCGAAGA	0.453000													19	54					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243456	13243456	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:13243456C>T	ENST00000337630.6	-	2	373	c.306G>A	c.(304-306)gaG>gaA	p.E102E	GSG1_ENST00000432710.2_Silent_p.E115E|GSG1_ENST00000457134.2_Silent_p.E102E|GSG1_ENST00000537302.1_Silent_p.E102E|GSG1_ENST00000396302.3_Silent_p.E102E|GSG1_ENST00000396310.2_Silent_p.E99E|GSG1_ENST00000324458.8_Silent_p.E115E|GSG1_ENST00000351606.6_Silent_p.E115E	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	102						endoplasmic reticulum membrane|integral to membrane		p.E102E(1)		endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CCACAGTTTCCTCACAGGATA	0.552000													8	46					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70152500	70152500	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:70152500G>A	ENST00000335568.5	+	3	903	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	UGT2B28_ENST00000511240.1_Missense_Mutation_p.E301K	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	301					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GAGCTCTGGTGAAAATGGTGT	0.413000													31	39					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744759	70744759	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:70744759G>A	ENST00000260126.3	-	2	856	c.150C>T	c.(148-150)ctC>ctT	p.L50L	SLCO5A1_ENST00000524945.1_Silent_p.L50L|SLCO5A1_ENST00000528658.1_5'UTR|SLCO5A1_ENST00000530307.1_Silent_p.L50L	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	50						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TAGTGGGACTGAGGCTTGGCC	0.642000											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	41					0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194346634	194346634	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:194346634G>A	ENST00000392432.2	-	3	555	c.350C>T	c.(349-351)tCt>tTt	p.S117F	TMEM44_ENST00000347147.4_Missense_Mutation_p.S117F|TMEM44_ENST00000473092.1_Missense_Mutation_p.S117F|TMEM44_ENST00000330115.3_Missense_Mutation_p.S14F|TMEM44_ENST00000381975.3_Missense_Mutation_p.S117F|TMEM44_ENST00000273580.7_Missense_Mutation_p.S117F	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	117						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		ACCTGAATTAGACTTGAATTT	0.478000													28	70					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497620	1497620	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:1497620C>T	ENST00000421627.2	+	2	895	c.761C>T	c.(760-762)cCc>cTc	p.P254L		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	333					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGCAGAGCCCCTTCGGGGAC	0.662000													19	85					0	0	1	0	0
ATP6AP1L	92270	broad.mit.edu	37	5	81614000	81614000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:81614000C>T	ENST00000380167.4	+	10	1881	c.556C>T	c.(556-558)Cct>Tct	p.P186S	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.P186S			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	186					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CATCGCCTCTCCTGCCCACTT	0.547000													17	23					0	0	1	0	0
AKNAD1	254268	broad.mit.edu	37	1	109394869	109394869	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:109394869C>T	ENST00000370001.3	-	2	686	c.418G>A	c.(418-420)Gac>Aac	p.D140N	AKNAD1_ENST00000369994.1_Missense_Mutation_p.D140N|AKNAD1_ENST00000369995.3_Missense_Mutation_p.D140N|AKNAD1_ENST00000357393.4_Intron	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	140										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCAAAACTGTCGGCATTTGAG	0.363000													9	15					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26919945	26919945	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26919945G>A	ENST00000321765.5	-	3	649	c.317C>T	c.(316-318)cCc>cTc	p.P106L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	106					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					GCTAATTTGGGGAATTGGATC	0.443000													31	138					0	0	1	0	0
SERPINA11	256394	broad.mit.edu	37	14	94912739	94912739	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94912739C>T	ENST00000334708.3	-	3	910	c.846G>A	c.(844-846)ggG>ggA	p.G282G	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	282					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCTTCATTTTCCCCGGGTCAG	0.547000													58	70					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1016837	1016837	+	Silent	SNP	G	G	A	rs71472140		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1016837G>A	ENST00000421673.2	-	31	6014	c.5964C>T	c.(5962-5964)tcC>tcT	p.S1988S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1988	Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGTCTGGAAGGATGTTGCAG	0.572000													36	2354					0	0	1	0	0
OR6V1	346517	broad.mit.edu	37	7	142750298	142750298	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142750298C>T	ENST00000418316.1	+	1	882	c.861C>T	c.(859-861)atC>atT	p.I287I		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					ATCCCTTTATCCTTACCTTCT	0.522000													20	26					0	0	1	0	0
ZDHHC2	51201	broad.mit.edu	37	8	17063272	17063272	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:17063272C>T	ENST00000262096.8	+	7	1280	c.585C>T	c.(583-585)atC>atT	p.I195I		NM_016353.4	NP_057437.1	Q9UIJ5	ZDHC2_HUMAN	zinc finger, DHHC-type containing 2	195						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		AGTATTTTATCAAATTTTGGA	0.308000													30	81					0	0	1	0	0
VAT1L	57687	broad.mit.edu	37	16	77850940	77850940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:77850940G>A	ENST00000302536.2	+	2	509	c.356G>A	c.(355-357)gGa>gAa	p.G119E		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	119							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						AGCGTGAAAGGATATGAGGTA	0.428000													18	21					0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83781740	83781740	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:83781740T>C	ENST00000566620.1	+	11	1856	c.1566T>C	c.(1564-1566)ggT>ggC	p.G522G	CDH13_ENST00000268613.10_Silent_p.G569G|RP11-298D21.1_ENST00000569165.1_RNA|RP11-298D21.1_ENST00000563981.1_RNA|CDH13_ENST00000428848.3_Silent_p.G483G|RP11-298D21.1_ENST00000570056.1_RNA	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	522	Cadherin 4.				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|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		ACCCAGCAGGTTGGCTGAATA	0.468000													83	14					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22170022	22170022	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22170022G>A	ENST00000397126.4	-	3	370	c.222C>T	c.(220-222)tcC>tcT	p.S74S	ZNF208_ENST00000599916.1_Silent_p.S74S|ZNF208_ENST00000601773.1_Silent_p.S74S|ZNF208_ENST00000597040.1_Silent_p.S42S	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACCTACCTGGGGATTCTTCCA	0.438000													6	19					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190498	58190498	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58190498G>A	ENST00000302581.2	-	1	288	c.237C>T	c.(235-237)gtC>gtT	p.V79V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ACCCAGCCATGACCTTGGGAG	0.483000													17	116					0	0	1	0	0
CAMK2A	815	broad.mit.edu	37	5	149629796	149629796	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:149629796T>C	ENST00000348628.6	-	11	1558	c.893A>G	c.(892-894)aAa>aGa	p.K298R	CAMK2A_ENST00000398376.3_Missense_Mutation_p.K298R	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	298	Calmodulin-binding.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCTTCAGTTTCCTCCTGGC	0.582000													29	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179431872	179431872	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179431872G>A	ENST00000589042.1	-	326	79211	c.78987C>T	c.(78985-78987)acC>acT	p.T26329T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T23761T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.T17264T|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.T17389T|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Silent_p.T17456T|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.T24688T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24688	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTCGACTGGTTTCTCGCT	0.403000													40	61					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112175569	112175569	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:112175569C>T	ENST00000457016.1	+	16	4658	c.4278C>T	c.(4276-4278)agC>agT	p.S1426S	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S1426S|APC_ENST00000257430.4_Silent_p.S1426S			P25054	APC_HUMAN	adenomatous polyposis coli	1426	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Y1376fs*41(1)|p.?(1)|p.P1424fs*19(1)|p.P1427fs*46(1)|p.S1411fs*41(1)|p.K1192fs*3(1)|p.S1426fs*46(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCCAGATAGCCCTGGACAAA	0.468000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			16	22					0	0	1	0	0
PPP3CA	5530	broad.mit.edu	37	4	101984452	101984452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:101984452G>A	ENST00000394854.3	-	9	1701	c.1018C>T	c.(1018-1020)Cca>Tca	p.P340S	PPP3CA_ENST00000523694.2_Missense_Mutation_p.P273S|PPP3CA_ENST00000507176.1_Missense_Mutation_p.P242S|PPP3CA_ENST00000512215.1_Missense_Mutation_p.P108S|PPP3CA_ENST00000394853.4_Missense_Mutation_p.P340S|PPP3CA_ENST00000323055.6_Intron	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	340					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGCCAGTATGGATGAGGAGAA	0.363000													8	36					0	0	1	0	0
GALNT6	11226	broad.mit.edu	37	12	51754519	51754519	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:51754519C>T	ENST00000543196.2	-	6	1358	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E385K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	385	Catalytic subdomain B.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						AAGGACATTTCCACGTTCTCC	0.547000													24	24					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204951005	204951005	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:204951005G>A	ENST00000367172.4	+	21	2655	c.2327G>A	c.(2326-2328)tGg>tAg	p.W776*	NFASC_ENST00000367170.4_Nonsense_Mutation_p.W776*|NFASC_ENST00000401399.1_Nonsense_Mutation_p.W776*|NFASC_ENST00000367169.4_Nonsense_Mutation_p.W776*|NFASC_ENST00000367171.4_Nonsense_Mutation_p.W761*|NFASC_ENST00000338586.6_Nonsense_Mutation_p.W776*|NFASC_ENST00000404076.1_Nonsense_Mutation_p.W755*|NFASC_ENST00000360049.4_Nonsense_Mutation_p.W772*|NFASC_ENST00000339876.6_Nonsense_Mutation_p.W776*|NFASC_ENST00000513543.1_Nonsense_Mutation_p.W772*|NFASC_ENST00000539706.1_Nonsense_Mutation_p.W772*|NFASC_ENST00000338515.6_Nonsense_Mutation_p.W776*|NFASC_ENST00000404907.1_Nonsense_Mutation_p.W772*			O94856	NFASC_HUMAN	neurofascin	776	Fibronectin type-III 2.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGAGAGGCCTGGAACAACGTC	0.602000													15	55					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6431659	6431659	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:6431659C>T	ENST00000348035.4	+	3	425	c.212C>T	c.(211-213)tCc>tTc	p.S71F	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.S71F	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	71					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CGCCCCCTATCCTATCCGCAA	0.408000													24	154					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187524571	187524571	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:187524571A>C	ENST00000441802.2	-	19	11318	c.11109T>G	c.(11107-11109)agT>agG	p.S3703R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3703					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGATCTGAGCACTACCTGGTT	0.428000										HNSCC(5;0.00058)			13	46					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	183994366	183994366	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:183994366G>A	ENST00000357474.5	+	2	256	c.137G>A	c.(136-138)gGg>gAg	p.G46E	ECE2_ENST00000402825.3_Intron|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Intron|ECE2_ENST00000359140.4_Intron			O60344	ECE2_HUMAN	endothelin converting enzyme 2	0	Methyltransferase-like region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGGGCAAGGGGGCTTCCCCT	0.687000													10	7					0	0	1	0	0
EHBP1	23301	broad.mit.edu	37	2	63175538	63175538	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:63175538C>T	ENST00000263991.5	+	14	2144	c.1662C>T	c.(1660-1662)gtC>gtT	p.V554V	EHBP1_ENST00000405015.3_Silent_p.V519V|EHBP1_ENST00000431489.1_Silent_p.V519V|EHBP1_ENST00000405289.1_Silent_p.V519V|EHBP1_ENST00000354487.3_Silent_p.V519V	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	554						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)			AACTAAATGTCGTTCAGATAG	0.343000													5	63					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	50278540	50278540	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:50278540C>T	ENST00000442544.2	+	2	824	c.208C>T	c.(208-210)Cca>Tca	p.P70S	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	70	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CCGAGGAGTTCCAGTGATCAA	0.507000													16	16					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72936715	72936715	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:72936715G>A	ENST00000553530.1	+	8	667	c.459_splice	c.e8-1	p.E154_splice	RGS6_ENST00000407322.4_Splice_Site_p.E154_splice|RGS6_ENST00000404301.2_Splice_Site_p.E154_splice|RGS6_ENST00000343854.6_Splice_Site_p.E154_splice|RGS6_ENST00000553525.1_Splice_Site_p.E154_splice|RGS6_ENST00000554782.1_Splice_Site_p.E15_splice|RGS6_ENST00000556437.1_Splice_Site_p.E154_splice|RGS6_ENST00000553690.1_3'UTR|RGS6_ENST00000402788.2_Splice_Site_p.E154_splice|RGS6_ENST00000406236.4_Splice_Site_p.E154_splice|RGS6_ENST00000355512.6_Splice_Site_p.E154_splice|RGS6_ENST00000434263.2_Splice_Site_p.E85_splice|RGS6_ENST00000555571.1_Splice_Site_p.E154_splice	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	154					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCTCATTAGGAAAACTTAGC	0.393000													24	28					0	0	1	0	0
ANKS1B	56899	broad.mit.edu	37	12	99201670	99201670	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:99201670C>T	ENST00000550693.2	-	5	841	c.588G>A	c.(586-588)acG>acA	p.T196T	ANKS1B_ENST00000341752.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547446.1_Intron|ANKS1B_ENST00000546960.1_Intron|ANKS1B_ENST00000549558.2_Intron|ANKS1B_ENST00000549025.2_Silent_p.T104T|ANKS1B_ENST00000546568.1_Intron|ANKS1B_ENST00000332712.7_Silent_p.T196T|ANKS1B_ENST00000333732.7_Silent_p.T36T|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000549493.2_Silent_p.T256T|ANKS1B_ENST00000547776.2_Intron	NM_001204069.1|NM_001204070.1	NP_001190998.1|NP_001190999.1	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	984						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)		CGTTCTGATTCGTCCATATTT	0.398000													21	2					0	0	1	0	0
SDHAF2	54949	broad.mit.edu	37	11	61205220	61205220	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61205220C>T	ENST00000301761.2	+	2	234	c.160C>T	c.(160-162)Cca>Tca	p.P54S	SDHAF2_ENST00000537782.1_Missense_Mutation_p.P54S|SDHAF2_ENST00000534878.1_Missense_Mutation_p.P54S|SDHAF2_ENST00000543265.1_Missense_Mutation_p.P54S|SDHAF2_ENST00000542074.1_Intron|RP11-286N22.8_ENST00000543044.1_Missense_Mutation_p.P42S|RP11-286N22.8_ENST00000544880.1_3'UTR	NM_017841.2	NP_060311.1	Q9NX18	SDHF2_HUMAN	succinate dehydrogenase complex assembly factor 2	54					mitochondrial electron transport, succinate to ubiquinone|protein-FAD linkage	mitochondrion	protein binding			large_intestine(3)|lung(4)|ovary(2)	9						CCCTTTGCCTCCATGGCAGGA	0.463000													32	118					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775372	231775372	+	Silent	SNP	G	G	A	rs144507378		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:231775372G>A	ENST00000392040.1	-	2	498	c.306C>T	c.(304-306)ttC>ttT	p.F102F	GPR55_ENST00000392039.2_Silent_p.F102F	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	102					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		ACATGCTGACGAAGTAAAGGC	0.592000													14	21					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179587274	179587274	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179587274C>T	ENST00000589042.1	-	77	22465		c.e77-1		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGGCGCTCTGTAGGGAGA	0.373000													34	60					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70933794	70933794	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70933794C>T	ENST00000334414.6	-	24	5647	c.5603G>A	c.(5602-5604)cGa>cAa	p.R1868Q	PTPRB_ENST00000538708.1_Missense_Mutation_p.R1560Q|PTPRB_ENST00000451516.2_Missense_Mutation_p.R1560Q|PTPRB_ENST00000261266.5_Missense_Mutation_p.R1650Q|PTPRB_ENST00000550857.1_Missense_Mutation_p.R1560Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.R1780Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1650	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGGTCTTTCTCGACCATGGCT	0.433000													14	24					0	0	1	0	0
CCDC61	729440	broad.mit.edu	37	19	46498700	46498700	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46498700C>T	ENST00000263284.2	+	2	98	c.98C>T	c.(97-99)tCc>tTc	p.S33F						coiled-coil domain containing 61											endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		AACGCCGGATCCTGGGGCGGG	0.622000													10	7					0	0	1	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92690348	92690348	+	Silent	SNP	C	C	T	rs78550975	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:92690348C>T	ENST00000318445.6	+	8	1861	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	SLCO3A1_ENST00000424469.2_Silent_p.I549I|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	549					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.I549I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCAGCCTGATCGGTGCCATGG	0.582000													41	59					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82764181	82764181	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82764181G>A	ENST00000423517.2	-	3	3022	c.2685C>T	c.(2683-2685)tcC>tcT	p.S895S	PCLO_ENST00000333891.8_Silent_p.S895S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	841	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGCTTTGGGGACTGTTGAG	0.547000													191	154					0	0	1	0	0
IGHG3	3502	broad.mit.edu	37	14	106236114	106236114	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106236114G>A	ENST00000390551.2	-	0	689																											CTGACCACACGGAACGTGCTG	0.597000													59	227					0	0	1	0	0
ZNF676	163223	broad.mit.edu	37	19	22363619	22363619	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22363619C>T	ENST00000397121.2	-	3	1217	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAATTCTCTTATGTTCCA	0.438000													18	40					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919272	51919272	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:51919272C>T	ENST00000353836.5	-	5	1125	c.904G>A	c.(904-906)Ggc>Agc	p.G302S	SIGLEC10_ENST00000439889.2_Missense_Mutation_p.G244S|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Missense_Mutation_p.G219S|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.G254S|SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.G302S|CTD-2616J11.2_ENST00000526996.1_RNA|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.G302S|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.G244S	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	302	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGTCTAGGGCCCCAGGGATGG	0.677000													7	37					0	0	1	0	0
YTHDF1	54915	broad.mit.edu	37	20	61835093	61835093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61835093G>A	ENST00000370339.3	-	4	540	c.199C>T	c.(199-201)Cct>Tct	p.P67S	YTHDF1_ENST00000370333.4_Missense_Mutation_p.P17S|YTHDF1_ENST00000370334.4_Intron	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	67										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						AGGGAGTAAGGAAATCCAATG	0.512000													28	61					0	0	1	0	0
IL36A	27179	broad.mit.edu	37	2	113763640	113763640	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:113763640C>T	ENST00000259211.6	+	2	511	c.100C>T	c.(100-102)Ccg>Tcg	p.P34S		NM_014440.1	NP_055255.1	Q9UHA7	IL36A_HUMAN	interleukin 36, alpha	34					immune response|inflammatory response	extracellular space	cytokine activity|interleukin-1 receptor binding			large_intestine(1)|lung(3)|ovary(2)|skin(1)|stomach(2)	9						CATAGCAGTCCCGAGGAAGGA	0.507000													11	22					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53208331	53208331	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:53208331G>A	ENST00000543227.1	-	6	2251	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F	ZNF611_ENST00000602162.1_Silent_p.F590F|ZNF611_ENST00000453741.2_Silent_p.F590F|ZNF611_ENST00000595798.1_Silent_p.F590F|ZNF611_ENST00000319783.1_Silent_p.F659F|ZNF611_ENST00000540744.1_Silent_p.F659F	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTACGCACGAAAGCCTTGT	0.408000													30	96					0	0	1	0	0
IGHV1-24	28467	broad.mit.edu	37	14	106733271	106733271	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:106733271C>T	ENST00000390610.2	-	0	283																											GATTGTTTCACCATCTTCAGG	0.517000													53	162					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459508	107459508	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:107459508G>A	ENST00000409382.3	-	2	1536	c.926C>T	c.(925-927)tCc>tTc	p.S309F	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S309F|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S309F	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	309					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CTCGCCCAAGGAAGAGTTGAG	0.682000													8	5					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214171387	214171387	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:214171387C>T	ENST00000366958.4	+	2	2117	c.1509C>T	c.(1507-1509)tcC>tcT	p.S503S	PROX1_ENST00000261454.4_Silent_p.S503S|PROX1_ENST00000435016.1_Silent_p.S503S|PROX1_ENST00000498508.2_Silent_p.S503S	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	503					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCTCCGGCTCCTTCTCTGGAA	0.567000													50	80					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9438107	9438107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:9438107C>T	ENST00000378501.2	+	30	3022	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*	PLCB4_ENST00000278655.4_Nonsense_Mutation_p.Q1003*|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.Q1015*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.Q1003*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.Q1015*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.Q1003*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1003					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						AATCAAAATTCAGACGCTGAC	0.353000													26	33					0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196920078	196920078	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196920078G>A	ENST00000367415.4	+	3	464	c.350G>A	c.(349-351)gGa>gAa	p.G117E	CFHR2_ENST00000476712.1_3'UTR|CFHR2_ENST00000367421.3_Missense_Mutation_p.G117E	NM_005666.2	NP_005657.1	P36980	FHR2_HUMAN	complement factor H-related 2	117	Sushi 2.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						TGCAACACAGGATACAGACTT	0.408000													17	100					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1269833	1269833	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1269833C>T	ENST00000447027.1	+	31	11790	c.11732C>T	c.(11731-11733)tCc>tTc	p.S3911F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S3908F|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3908	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCCCTCCTCCGTCCCGGGG	0.647000													5	30					0	0	1	0	0
STMN3	50861	broad.mit.edu	37	20	62275112	62275112	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62275112C>T	ENST00000370053.1	-	3	369	c.288G>A	c.(286-288)agG>agA	p.R96R	STMN3_ENST00000540534.1_Silent_p.R85R	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	96					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TCCTTGCCTTCCTCCGCTCCT	0.657000													38	51					0	0	1	0	0
CUL7	9820	broad.mit.edu	37	6	43014822	43014822	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:43014822G>A	ENST00000535468.1	-	10	2531	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F	CUL7_ENST00000478630.1_5'UTR|CUL7_ENST00000265348.3_Silent_p.F731F	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	731	DOC.				interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGGTGCAGGAAGAAAATCA	0.577000													28	101					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154492803	154492803	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154492803G>A	ENST00000368482.4	+	5	1003	c.165G>A	c.(163-165)aaG>aaA	p.K55K	TDRD10_ENST00000368480.3_Silent_p.K55K	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	55	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACCTTCTAAAGGACTTCAACC	0.438000													31	39					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26589851	26589851	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:26589851C>T	ENST00000376261.3	+	16	2222	c.1719C>T	c.(1717-1719)ttC>ttT	p.F573F	GAD2_ENST00000259271.3_Silent_p.F573F	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	573					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	ACATTGACTTCCTGATTGAAG	0.438000													36	99					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026612	61026612	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61026612G>A	ENST00000335613.5	-	20	2789	c.2403C>T	c.(2401-2403)ctC>ctT	p.L801L	VWCE_ENST00000535710.1_Silent_p.L266L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	801						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTCTTAAAAGGAGCTGGAGGA	0.572000													9	42					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72862340	72862340	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72862340G>A	ENST00000455107.2	-	6	704	c.288C>T	c.(286-288)gcC>gcT	p.A96A	FDXR_ENST00000583917.1_Silent_p.A141A|FDXR_ENST00000442102.2_Silent_p.A183A|FDXR_ENST00000420580.2_Silent_p.A100A|FDXR_ENST00000413947.2_Silent_p.A171A|FDXR_ENST00000582944.1_Silent_p.A132A|FDXR_ENST00000293195.5_Silent_p.A140A|FDXR_ENST00000544854.1_Silent_p.A88A|FDXR_ENST00000581969.1_5'UTR|FDXR_ENST00000581530.1_Silent_p.A140A			P22570	ADRO_HUMAN	ferredoxin reductase	140					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					GAATTTCCAGGGCCCGATGGT	0.642000													19	60					0	0	1	0	0
RALGAPA1	253959	broad.mit.edu	37	14	36191028	36191028	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:36191028G>A	ENST00000258840.6	-	16	2522	c.2132C>T	c.(2131-2133)tCa>tTa	p.S711L	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.S711L|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.S711L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.S711L|RALGAPA1_ENST00000554704.1_5'UTR			Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	711					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTTGTCAACTGAAACTTTCTG	0.418000													32	42					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77415286	77415286	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77415286G>A	ENST00000451710.3	-	17	2359	c.2122C>T	c.(2122-2124)Ctt>Ttt	p.L708F	TRPM6_ENST00000449912.2_Missense_Mutation_p.L703F|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.L708F|TRPM6_ENST00000361255.3_Missense_Mutation_p.L703F|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L708F			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	708					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GCCAGTTTAAGGCAGGTCGAA	0.507000													31	12					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555902	29555902	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29555902C>T	ENST00000383640.2	+	1	220	c.181C>T	c.(181-183)Ctc>Ttc	p.L61F	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	61					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GTACTTTTTCCTCTCCAACCT	0.532000													21	110					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14823163	14823163	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:14823163G>A	ENST00000380881.4	-	14	3150	c.2335C>T	c.(2335-2337)Cct>Tct	p.P779S	FREM1_ENST00000380880.3_Missense_Mutation_p.P778S|FREM1_ENST00000422223.2_Missense_Mutation_p.P778S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	778					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CATACCTCAGGAACTTGATTG	0.403000													13	12					0	0	1	0	0
SYNGR1	9145	broad.mit.edu	37	22	39772134	39772134	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:39772134C>T	ENST00000328933.5	+	3	430	c.415C>T	c.(415-417)Cca>Tca	p.P139S	SYNGR1_ENST00000318801.4_Missense_Mutation_p.P139S|SYNGR1_ENST00000381535.4_Missense_Mutation_p.P140S|SYNGR1_ENST00000406293.3_Missense_Mutation_p.P139S	NM_004711.4	NP_004702.2			synaptogyrin 1											endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	7	Melanoma(58;0.04)					CAAGGACAACCCACTGAACGA	0.632000													26	106					0	0	1	0	0
LEPR	3953	broad.mit.edu	37	1	66036324	66036324	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:66036324C>G	ENST00000349533.6	+	4	394	c.209C>G	c.(208-210)cCt>cGt	p.P70R	LEPR_ENST00000344610.8_Missense_Mutation_p.P70R|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.P70R|LEPR_ENST00000371059.3_Missense_Mutation_p.P70R|LEPR_ENST00000371060.3_Missense_Mutation_p.P70R	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	70					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTGTTGAACCTAAGTTTAAT	0.393000													12	22					0	0	1	0	0
L3MBTL1	26013	broad.mit.edu	37	20	42143764	42143764	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:42143764C>T	ENST00000444063.1	+	2	480	c.348C>T	c.(346-348)tcC>tcT	p.S116S	L3MBTL1_ENST00000427442.2_Silent_p.S184S|L3MBTL1_ENST00000418998.1_Silent_p.S184S|L3MBTL1_ENST00000373135.3_Silent_p.S116S|L3MBTL1_ENST00000457824.1_3'UTR|L3MBTL1_ENST00000373134.1_Silent_p.S116S			Q9Y468	LMBL1_HUMAN	l(3)mbt-like 1 (Drosophila)	116					chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis	chromatin|condensed chromosome|nucleoplasm	identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(3)|ovary(1)|skin(2)	7						ATCTTGGTTCCTCTAATGATG	0.592000													17	79					0	0	1	0	0
CWH43	80157	broad.mit.edu	37	4	49000535	49000535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:49000535C>T	ENST00000226432.4	+	6	955	c.772C>T	c.(772-774)Cgt>Tgt	p.R258C	CWH43_ENST00000513409.1_Missense_Mutation_p.R231C	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	258					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTGTGGTTTCGTGGTACTGG	0.443000													77	30					0	0	1	0	0
TMC5	79838	broad.mit.edu	37	16	19455440	19455440	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:19455440C>T	ENST00000396229.2	+	4	1575	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	TMC5_ENST00000542583.2_Missense_Mutation_p.R276C|TMC5_ENST00000541464.1_Missense_Mutation_p.R276C|TMC5_ENST00000381414.4_Missense_Mutation_p.R276C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	276						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCCTCATTTCGTCACAGGAG	0.463000													21	43					0	0	1	0	0
PTGDR	5729	broad.mit.edu	37	14	52735294	52735294	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:52735294C>T	ENST00000306051.2	+	1	864	c.762C>T	c.(760-762)tcC>tcT	p.S254S	PTGDR_ENST00000553372.1_Silent_p.S254S	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	254						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	GGGAAGCGTCCCCTCAGCCCC	0.677000													31	101					0	0	1	0	0
RDH16	8608	broad.mit.edu	37	12	57348785	57348785	+	Silent	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57348785C>A	ENST00000398138.3	-	2	1333	c.477G>T	c.(475-477)gtG>gtT	p.V159V	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	159					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	binding|electron carrier activity|retinol dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						AGACGTTGACCACACGGCCCC	0.567000													13	53					9.31168e-06	9.33901e-06	1	1	0
CAMK4	814	broad.mit.edu	37	5	110809014	110809014	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:110809014G>A	ENST00000282356.4	+	8	1029	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	CAMK4_ENST00000512453.1_Missense_Mutation_p.E211K	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	211	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		TGCAGCACCTGAAATTCTTAG	0.318000													24	44					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54783910	54783910	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54783910G>A	ENST00000391748.1	-	4	218	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L	LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000314446.5_Silent_p.L31L|LILRB2_ENST00000391746.1_Silent_p.L31L|LILRB2_ENST00000391749.4_Silent_p.L31L	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	31	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCAGCCCACAGGGTGGGCTTG	0.562000													29	134					0	0	1	0	0
ZBTB46	140685	broad.mit.edu	37	20	62378480	62378480	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62378480C>T	ENST00000245663.4	-	5	1723	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	ZBTB46_ENST00000395104.1_Missense_Mutation_p.E525K|ZBTB46_ENST00000302995.2_Missense_Mutation_p.E525K	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					AACAGCGCCTCTGGAGAGCCC	0.736000													4	30					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155011	22155011	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22155011T>A	ENST00000397126.4	-	4	2973	c.2825A>T	c.(2824-2826)gAg>gTg	p.E942V	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTAGAATTTCTCTCCAGCATG	0.363000													8	12					0	0	1	0	0
HS3ST4	9951	broad.mit.edu	37	16	26147178	26147178	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:26147178C>T	ENST00000331351.5	+	2	1372	c.980C>T	c.(979-981)tCc>tTc	p.S327F	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	327					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		ATCGATGCTTCCTGGAGTGCC	0.542000													96	71					0	0	1	0	0
ABCG8	64241	broad.mit.edu	37	2	44102363	44102363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:44102363C>T	ENST00000272286.2	+	11	1657	c.1567C>T	c.(1567-1569)Cca>Tca	p.P523S		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	523	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAACCTGAGGCCAGGCCTCCA	0.622000													112	701					0	0	1	0	0
PHACTR3	116154	broad.mit.edu	37	20	58322815	58322815	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:58322815C>T	ENST00000371015.1	+	3	750	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	PHACTR3_ENST00000361300.4_Silent_p.L54L|PHACTR3_ENST00000359926.3_Silent_p.L92L|PHACTR3_ENST00000355648.4_Silent_p.L54L|PHACTR3_ENST00000395636.2_Silent_p.L54L|PHACTR3_ENST00000541461.1_Silent_p.L54L|PHACTR3_ENST00000395639.4_Silent_p.L54L	NM_080672.3	NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	95						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTGGGCAGCGCTGGAGAAGAA	0.582000													47	133					0	0	1	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149386	142149386	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142149386G>A	ENST00000390372.3	-	0	13																											AGGAGCCCAGGGCCCATGGCA	0.602000													4	40					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021133	73021133	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:73021133G>A	ENST00000263674.3	+	1	1800	c.1450G>A	c.(1450-1452)Gag>Aag	p.E484K		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	484					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGACCTTTCAGAGCTGAGGGT	0.577000													24	30					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86252056	86252056	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:86252056G>A	ENST00000370571.2	-	48	4406	c.4040C>T	c.(4039-4041)cCa>cTa	p.P1347L	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1347L	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1347	Collagen-like 15.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGAATTCCTGGGCTTCCTGG	0.498000													68	6					0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97031472	97031472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:97031472C>T	ENST00000329399.6	-	2	274	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K	PDLIM1_ENST00000477757.1_Intron	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	56	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CTAGTATTTTCCCCATCAATG	0.448000													45	74					0	0	1	0	0
RAB3IP	117177	broad.mit.edu	37	12	70149251	70149251	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:70149251C>T	ENST00000550536.1	+	2	568	c.111C>T	c.(109-111)gaC>gaT	p.D37D	RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000247833.7_Silent_p.D21D|RAB3IP_ENST00000378815.6_Silent_p.D21D|RAB3IP_ENST00000483530.2_Silent_p.D21D|RAB3IP_ENST00000362025.5_Silent_p.D37D	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	37					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTTCTCCGGACCTTCTTGGTG	0.453000													29	63					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124209662	124209662	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124209662C>T	ENST00000360013.3	+	30	4639	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	KALRN_ENST00000240874.3_Silent_p.S1504S|KALRN_ENST00000460856.1_Silent_p.S1495S	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1504	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTGAGATCTCCTTGGTTTTTA	0.507000													24	61					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38572456	38572456	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:38572456C>T	ENST00000222345.6	+	3	760	c.251C>T	c.(250-252)gCc>gTc	p.A84V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	84					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCAAGGGTGGCCGACTGGCCG	0.706000													6	24					0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101483990	101483990	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:101483990C>T	ENST00000341893.3	+	11	2945	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S	CEP97_ENST00000327230.4_Silent_p.S757S|CEP97_ENST00000494050.1_Silent_p.S672S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	731	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGAAAGCTCCATAATGGGGA	0.388000													11	37					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137703188	137703188	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:137703188C>T	ENST00000371817.3	+	45	3946	c.3532C>T	c.(3532-3534)Cct>Tct	p.P1178S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1178	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCGCAGGGTCCTCCTGGGCC	0.612000											OREG0019605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	75					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56249680	56249680	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56249680C>T	ENST00000332836.2	-	1	88	c.61G>A	c.(61-63)Gaa>Aaa	p.E21K		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	21	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAAAACTCTTCCTTTCTGAGC	0.453000													82	89					0	0	1	0	0
PCDHGB3	56102	broad.mit.edu	37	5	140751020	140751020	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140751020C>T	ENST00000576222.1	+	1	1190	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGAATCCCAACATATAC	0.418000													8	34					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30694898	30694898	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:30694898C>A	ENST00000256246.2	-	3	7827	c.7753G>T	c.(7753-7755)Gat>Tat	p.D2585Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2585										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCAATGTATCCTTCATGTAT	0.403000													26	38					1.50538e-07	1.51202e-07	1	1	0
CFHR4	10877	broad.mit.edu	37	1	196887394	196887394	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196887394G>A	ENST00000367416.2	+	10	1729	c.1592G>A	c.(1591-1593)gGa>gAa	p.G531E	CFHR4_ENST00000367418.1_Missense_Mutation_p.G285E|CFHR4_ENST00000251424.4_Missense_Mutation_p.G285E|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.G285E(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						CAGTTAAAAGGAAAAAGTGAC	0.279000													8	52					0	0	1	0	0
SLC10A7	84068	broad.mit.edu	37	4	147179970	147179970	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:147179970G>A	ENST00000432059.2	-	10	1074	c.828C>T	c.(826-828)atC>atT	p.I276I	SLC10A7_ENST00000335472.7_Silent_p.I289I|SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000394062.3_Silent_p.I289I|SLC10A7_ENST00000507030.1_Silent_p.I289I			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	289						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					CTGCAAACACGATCTTCAGCA	0.418000													29	23					0	0	1	0	0
KCND2	3751	broad.mit.edu	37	7	119915115	119915115	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:119915115G>A	ENST00000331113.4	+	1	1394	c.429G>A	c.(427-429)gaG>gaA	p.E143E		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	143					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAGGCGAGAGAACGCCGAGC	0.597000													48	45					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18301668	18301668	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:18301668G>A	ENST00000441493.2	-	26	4111	c.3759C>T	c.(3757-3759)ccC>ccT	p.P1253P		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1253	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGCTGGGTGGGGGCGTGGAGG	0.692000													19	72					0	0	1	0	0
KRT28	162605	broad.mit.edu	37	17	38955903	38955903	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38955903G>A	ENST00000306658.7	-	1	308	c.243C>T	c.(241-243)ctC>ctT	p.L81L		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	81	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCCAGAGAGGAGTCCCCCTT	0.537000													21	72					0	0	1	0	0
FAM189A2	9413	broad.mit.edu	37	9	72003127	72003127	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:72003127C>A	ENST00000257515.8	+	10	1330	c.910C>A	c.(910-912)Ctg>Atg	p.L304M	FAM189A2_ENST00000455972.1_Missense_Mutation_p.L304M|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000303068.7_Missense_Mutation_p.L139M|FAM189A2_ENST00000377216.3_Missense_Mutation_p.L91M	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	304						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAGACTGGATCTGGCTGCAGT	0.517000													17	17					4.14922e-12	4.18365e-12	1	1	0
CNR1	1268	broad.mit.edu	37	6	88853866	88853866	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:88853866C>T	ENST00000537554.1	-	2	4690	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	CNR1_ENST00000549890.1_Silent_p.K376K|CNR1_ENST00000369501.2_Silent_p.K376K|CNR1_ENST00000428600.2_Silent_p.K376K|CNR1_ENST00000468898.1_Silent_p.K343K|CNR1_ENST00000549716.1_Silent_p.K315K|CNR1_ENST00000535130.1_Silent_p.K376K|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369499.2_Silent_p.K376K	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	376					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CAAACACCGTCTTAATGAGCT	0.517000													9	20					0	0	1	0	0
LYVE1	10894	broad.mit.edu	37	11	10582227	10582227	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:10582227G>A	ENST00000256178.3	-	4	676	c.518C>T	c.(517-519)tCc>tTc	p.S173F	LYVE1_ENST00000529598.1_Missense_Mutation_p.S69F|LYVE1_ENST00000531706.1_5'UTR|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA	NM_006691.3	NP_006682.2	Q9Y5Y7	LYVE1_HUMAN	lymphatic vessel endothelial hyaluronan receptor 1	173					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		AGAGTAAGGGGATGCCACCGA	0.413000													23	87					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9067300	9067300	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9067300C>T	ENST00000397910.4	-	3	20349	c.20146G>A	c.(20146-20148)Gaa>Aaa	p.E6716K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6718	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGATCACTTCAGTGGAGATG	0.498000													120	107					0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175231	55175231	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55175231C>T	ENST00000391736.1	+	5	405	c.90C>T	c.(88-90)acC>acT	p.T30T	LILRB4_ENST00000391733.3_Silent_p.T30T|LILRB4_ENST00000391734.3_Silent_p.T30T|LILRB4_ENST00000430952.2_Silent_p.T30T|LILRB4_ENST00000270452.2_Silent_p.T30T	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	30	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCAAACCCACCCTCTGGGCTG	0.622000													32	32					0	0	1	0	0
ZGPAT	84619	broad.mit.edu	37	20	62367163	62367163	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:62367163G>A	ENST00000328969.5	+	7	1615	c.1488G>A	c.(1486-1488)gaG>gaA	p.E496E	ZGPAT_ENST00000448100.1_Silent_p.E476E|ZGPAT_ENST00000369967.3_Silent_p.E476E|ZGPAT_ENST00000357119.4_Silent_p.E467E|ZGPAT_ENST00000355969.6_Silent_p.E476E|ZGPAT_ENST00000490623.1_3'UTR	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	496					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					AGCTGCAGGAGAAGCTGGCAG	0.667000													3	26					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36047354	36047354	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:36047354G>A	ENST00000560016.1	-	8	1709	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	HNF1B_ENST00000225893.4_3'UTR|HNF1B_ENST00000561193.1_3'UTR|HNF1B_ENST00000427275.2_Missense_Mutation_p.R435C			P35680	HNF1B_HUMAN	HNF1 homeobox B	0					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGTTGCGCACGAAGTAAGTGG	0.572000													176	387					0	0	1	0	0
TRPM2	7226	broad.mit.edu	37	21	45861608	45861608	+	Nonsense_Mutation	SNP	C	C	T	rs138426423		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:45861608C>T	ENST00000397928.1	+	32	4865	c.4420C>T	c.(4420-4422)Cga>Tga	p.R1474*	TRPM2_ENST00000300481.9_Nonsense_Mutation_p.R1420*|TRPM2_ENST00000300482.5_Nonsense_Mutation_p.R1474*|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Nonsense_Mutation_p.R1524*	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1474	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCCTCCATCCGATGGCAGGT	0.652000													14	23					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80729862	80729862	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:80729862C>T	ENST00000458043.2	+	38	4521	c.4515C>T	c.(4513-4515)ttC>ttT	p.F1505F	OTOGL_ENST00000547103.1_Silent_p.F1493F	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						ACTGTGGTTTCCGAGGAAGGC	0.408000													27	22					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144765	55144765	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55144765C>T	ENST00000396331.1	+	8	1614	c.1257C>T	c.(1255-1257)gtC>gtT	p.V419V	LILRB1_ENST00000418536.2_Silent_p.V419V|LILRB1_ENST00000396317.1_Silent_p.V419V|LILRB1_ENST00000324602.7_Silent_p.V419V|LILRB1_ENST00000427581.2_Silent_p.V455V|LILRB1_ENST00000396327.3_Silent_p.V419V|LILRB1_ENST00000462628.1_Intron|LILRB1_ENST00000396315.1_Silent_p.V419V|LILRB1_ENST00000396321.2_Silent_p.V419V|LILRB1_ENST00000434867.2_Silent_p.V419V|LILRB1_ENST00000396332.4_Silent_p.V419V|LILRB1_ENST00000448689.1_Silent_p.V419V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	419					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		AGCTCGTGGTCTCAGGTGGGG	0.637000										HNSCC(37;0.09)			19	54					0	0	1	0	0
KLHL13	90293	broad.mit.edu	37	X	117035835	117035835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:117035835G>A	ENST00000371876.1	-	5	3709	c.1288C>T	c.(1288-1290)Cat>Tat	p.H430Y	KLHL13_ENST00000541812.1_Missense_Mutation_p.H465Y|KLHL13_ENST00000371878.1_Missense_Mutation_p.H430Y|KLHL13_ENST00000540167.1_Missense_Mutation_p.H465Y|KLHL13_ENST00000469946.1_Missense_Mutation_p.H430Y|KLHL13_ENST00000539496.1_Missense_Mutation_p.H484Y|KLHL13_ENST00000371882.1_Missense_Mutation_p.H430Y|KLHL13_ENST00000262820.3_Missense_Mutation_p.H481Y|KLHL13_ENST00000545703.1_Missense_Mutation_p.H439Y			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	481					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GTTCCAGCATGGCCATAGTGG	0.333000													19	22					0	0	1	0	0
WNK3	65267	broad.mit.edu	37	X	54275315	54275315	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:54275315G>A	ENST00000354646.2	-	17	3904	c.3466C>T	c.(3466-3468)Cca>Tca	p.P1156S	WNK3_ENST00000375159.2_Missense_Mutation_p.P1156S|WNK3_ENST00000375169.3_Missense_Mutation_p.P1156S	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1156					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCTGTCACTGGACAGGAGAGG	0.463000													64	1					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5245826	5245826	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:5245826G>A	ENST00000372412.4	-	10	1185	c.952C>T	c.(952-954)Ctg>Ttg	p.L318L	PTPRS_ENST00000592099.1_Silent_p.L304L|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Silent_p.L304L|PTPRS_ENST00000587303.1_Silent_p.L317L|PTPRS_ENST00000353284.2_Silent_p.L304L|PTPRS_ENST00000357368.4_Silent_p.L317L|PTPRS_ENST00000348075.2_Silent_p.L304L|PTPRS_ENST00000262963.6_Silent_p.L313L			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	317	Ig-like C2-type 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		ATGACGCCCAGGCTGGACATG	0.622000													13	14					0	0	1	0	0
ZHX2	22882	broad.mit.edu	37	8	123965046	123965046	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:123965046G>A	ENST00000314393.4	+	3	2131	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	432	Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCACCCAAGGTGGCCAACC	0.612000													6	18					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117280369	117280369	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:117280369C>T	ENST00000278935.3	+	30	3931	c.3784C>T	c.(3784-3786)Cac>Tac	p.H1262Y	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1262					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCGCAAGATCCACGGGCTTAG	0.617000													32	43					0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8421934	8421934	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:8421934C>T	ENST00000337907.3	-	18	2539	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.K81K|RERE_ENST00000377464.1_Silent_p.K367K|RERE_ENST00000400908.2_Silent_p.K635K	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	635					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CCTCCTTCACCTTCTGCAGGG	0.552000													10	28					0	0	1	0	0
ERCC2	2068	broad.mit.edu	37	19	45868162	45868162	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45868162G>A	ENST00000391945.4	-	7	605	c.528C>T	c.(526-528)aaC>aaT	p.N176N	ERCC2_ENST00000391944.3_Intron|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Silent_p.N152N|ERCC2_ENST00000485403.2_Silent_p.N152N	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	176	Helicase ATP-binding.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGTCATCCAGGTTGTAGATGC	0.652000			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				19	26					0	0	1	0	0
SH2B2	10603	broad.mit.edu	37	7	101957705	101957705	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:101957705C>T	ENST00000536178.1	+	8	1394	c.1349C>T	c.(1348-1350)tCc>tTc	p.S450F	SH2B2_ENST00000306803.8_Missense_Mutation_p.S412F			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	413	SH2.				blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CTGGAGCTATCCGACTACCCA	0.632000													10	21					0	0	1	0	0
TANGO6	79613	broad.mit.edu	37	16	68934380	68934380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:68934380C>T	ENST00000261778.1	+	8	1433	c.1421C>T	c.(1420-1422)tCc>tTc	p.S474F		NM_024562.1	NP_078838.1			transport and golgi organization 6 homolog (Drosophila)																		TTGATGGATTCCCTGCTTCCA	0.428000													60	16					0	0	1	0	0
LTBP1	4052	broad.mit.edu	37	2	33360016	33360016	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:33360016A>T	ENST00000404816.2	+	5	1543	c.1190A>T	c.(1189-1191)aAc>aTc	p.N397I	LTBP1_ENST00000354476.3_Missense_Mutation_p.N397I|LTBP1_ENST00000404525.1_Missense_Mutation_p.N71I|LTBP1_ENST00000390003.4_Missense_Mutation_p.N71I|LTBP1_ENST00000407925.1_Missense_Mutation_p.N71I|LTBP1_ENST00000402934.1_Missense_Mutation_p.N71I|LTBP1_ENST00000418533.2_Missense_Mutation_p.N71I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	397					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACGGCCACGAACTTCCGAGTG	0.532000													4	20					0	0	1	0	0
ADD3	120	broad.mit.edu	37	10	111892132	111892132	+	Missense_Mutation	SNP	C	C	T	rs139595633	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:111892132C>T	ENST00000356080.4	+	14	2169	c.1802C>T	c.(1801-1803)cCg>cTg	p.P601L	ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	601						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ACTCAGTCACCGCAAAATGTC	0.398000													23	17					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162661050	162661050	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:162661050G>A	ENST00000375514.5	+	4	542	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SLC4A10_ENST00000535165.1_Silent_p.K74K|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000421911.1_Silent_p.K74K|SLC4A10_ENST00000415876.2_Silent_p.K74K|SLC4A10_ENST00000446997.1_Silent_p.K74K|SLC4A10_ENST00000272716.5_Silent_p.K74K	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	74					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AACACAGAAAGAGAGACAGAG	0.393000													7	3					0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27877948	27877948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:27877948G>A	ENST00000374011.2	-	6	1647	c.679C>T	c.(679-681)Cca>Tca	p.P227S	AHDC1_ENST00000482400.2_5'UTR|AHDC1_ENST00000247087.5_Missense_Mutation_p.P227S	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	227	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TCAGGCTCTGGGGGCAGACCC	0.642000													16	32					0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48347200	48347200	+	Silent	SNP	C	C	T	rs141730559		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:48347200C>T	ENST00000319856.4	+	1	729	c.708C>T	c.(706-708)ttC>ttT	p.F236F		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	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													4	40					0	0	1	0	0
OR1N1	138883	broad.mit.edu	37	9	125288700	125288700	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:125288700C>T	ENST00000304880.2	-	1	872	c.873G>A	c.(871-873)agG>agA	p.R291R		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTCCTTGTTCCTTAGGCTAT	0.463000													13	14					0	0	1	0	0
LOC146880	146880	broad.mit.edu	37	17	62754738	62754738	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62754738G>A	ENST00000400873.3	-	0	1611					NR_026899.1																						GAGACAAAGGGAGAAAGCTAA	0.378000													18	89					0	0	1	0	0
PEX5L	51555	broad.mit.edu	37	3	179616033	179616033	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:179616033C>T	ENST00000467460.1	-	3	425	c.93_splice	c.e3-1	p.G32_splice	PEX5L-AS2_ENST00000462801.1_RNA|PEX5L_ENST00000465751.1_Splice_Site_p.G8_splice|PEX5L_ENST00000263962.8_Splice_Site_p.G30_splice|PEX5L_ENST00000468741.1_Intron|PEX5L_ENST00000464614.1_5'UTR|PEX5L_ENST00000472994.1_Intron|PEX5L_ENST00000476138.1_5'UTR|PEX5L_ENST00000485199.1_Intron	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	32					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			AGAGCCTTTTCCCTATAACAG	0.398000													24	50					0	0	1	0	0
SLC26A10	65012	broad.mit.edu	37	12	58018757	58018757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:58018757G>A	ENST00000320442.4	+	10	1647	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	SLC26A10_ENST00000490243.1_3'UTR|SLC26A10_ENST00000379218.2_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	446	STAS.					integral to membrane	antiporter activity	p.E445delE(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GCTCGGAGAAGGAGAAAAGGT	0.597000													59	68					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2855558	2855558	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2855558C>T	ENST00000520002.1	-	55	8910	c.8355G>A	c.(8353-8355)tgG>tgA	p.W2785*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.W2727*|CSMD1_ENST00000602557.1_Nonsense_Mutation_p.W2785*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.W2784*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.W2726*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.W2727*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2785	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAGGGCTACTCCACTGGCCGT	0.557000													7	36					0	0	1	0	0
NTAN1	123803	broad.mit.edu	37	16	15141896	15141896	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:15141896A>T	ENST00000287706.3	-	2	234	c.142T>A	c.(142-144)Tat>Aat	p.Y48N	PDXDC1_ENST00000535621.2_Intron	NM_173474.2	NP_775745.1	Q96AB6	NTAN1_HUMAN	N-terminal asparagine amidase	48						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						TGCTGAACATACAGAAGGCCC	0.403000													19	89					0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459760	148459760	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:148459760T>G	ENST00000542281.1	+	4	1384	c.938T>G	c.(937-939)tTt>tGt	p.F313C	AGTR1_ENST00000404754.2_Missense_Mutation_p.F313C|AGTR1_ENST00000349243.3_Missense_Mutation_p.F313C|AGTR1_ENST00000402260.1_Missense_Mutation_p.F313C|AGTR1_ENST00000474935.1_Missense_Mutation_p.F313C|AGTR1_ENST00000497524.1_Missense_Mutation_p.F313C|AGTR1_ENST00000475347.1_Missense_Mutation_p.F313C|AGTR1_ENST00000461609.1_Missense_Mutation_p.F313C|AGTR1_ENST00000418473.2_Missense_Mutation_p.F313C	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	313				RYF -> KDI (in Ref. 6; BAA02968).	calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	AAAAGATATTTTCTCCAGCTT	0.388000													10	17					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3238090	3238090	+	Missense_Mutation	SNP	C	C	T	rs147225813		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:3238090C>T	ENST00000217939.6	-	5	5790	c.5636G>A	c.(5635-5637)gGa>gAa	p.G1879E		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1879	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTGGTTTTCCTGTTGCCTC	0.433000													16	16					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233506	21233506	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21233506T>C	ENST00000233242.1	-	26	6361	c.6234A>G	c.(6232-6234)caA>caG	p.Q2078Q		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	2078	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CAAAATATTCTTGCAAGGTCT	0.343000													729	225					0	0	1	0	0
OR2W1	26692	broad.mit.edu	37	6	29012515	29012515	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:29012515G>A	ENST00000377175.1	-	1	502	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TCCAGATCATGATAATCATCT	0.373000													12	52					0	0	1	0	0
ALPK3	57538	broad.mit.edu	37	15	85407716	85407716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:85407716C>T	ENST00000258888.5	+	12	5316	c.5149C>T	c.(5149-5151)Cca>Tca	p.P1717S		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1717	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AAACAATATCCCATATGCTAC	0.542000													17	89					0	0	1	0	0
ITPKC	80271	broad.mit.edu	37	19	41243613	41243613	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:41243613T>A	ENST00000263370.2	+	6	1820	c.1787T>A	c.(1786-1788)gTg>gAg	p.V596E		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	596						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CAAAAGTACGTGGCATGCCTA	0.562000													45	59					0	0	1	0	0
C3orf30	152405	broad.mit.edu	37	3	118866229	118866229	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:118866229G>A	ENST00000295622.1	+	1	1233	c.1193G>A	c.(1192-1194)aGc>aAc	p.S398N	RP11-484M3.5_ENST00000490594.1_Missense_Mutation_p.S3N	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	398										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTTGAGGATAGCCAAGTAGAC	0.463000													18	43					0	0	1	0	0
SPATA8	145946	broad.mit.edu	37	15	97326937	97326937	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:97326937G>A	ENST00000328504.3	+	1	319	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	SPATA8_ENST00000558553.1_Intron	NM_173499.3	NP_775770.1	Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	18										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			TCTCTACCAGGAAATTGCCCC	0.552000													17	49					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55136144	55136144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55136144G>A	ENST00000314706.3	+	1	785	c.785G>A	c.(784-786)cGa>cAa	p.R262Q		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						GAAGGGAAACGAAAAGCTTTC	0.438000													56	67					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43508457	43508457	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43508457C>T	ENST00000400427.1	+	5	837	c.441C>T	c.(439-441)gcC>gcT	p.A147A	UMODL1_ENST00000408989.2_Silent_p.A219A|UMODL1_ENST00000400424.1_Silent_p.A147A|UMODL1_ENST00000408910.2_Silent_p.A219A	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	219	WAP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCACTCAGCCCCTGGGAACG	0.642000													14	14					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141736632	141736632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141736632C>T	ENST00000475668.2	+	18	2140	c.2086C>T	c.(2086-2088)Cct>Tct	p.P696S	MGAM_ENST00000549489.2_Missense_Mutation_p.P696S			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	696	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGACCAGGATCCTGCCTCCTT	0.498000													36	140					0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11007805	11007805	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:11007805G>A	ENST00000377004.4	-	12	2386	c.2387C>T	c.(2386-2388)cCc>cTc	p.P796L	C1orf127_ENST00000377008.4_Missense_Mutation_p.P629L	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	647										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGCCAAGGTGGGCTCTGTCAG	0.627000													20	1					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42249664	42249664	+	Silent	SNP	G	G	A	rs139711178	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:42249664G>A	ENST00000293414.1	+	2	636	c.552G>A	c.(550-552)acG>acA	p.T184T		NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	184					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACCTCTGCACGATCCCCGAGT	0.592000													29	49					0	0	1	0	0
OTOP2	92736	broad.mit.edu	37	17	72926630	72926630	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:72926630C>T	ENST00000331427.4	+	6	992	c.900C>T	c.(898-900)ttC>ttT	p.F300F	OTOP2_ENST00000580223.1_Silent_p.F300F	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	300						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					TGCTGCTCTTCGTGGTGGGGC	0.617000													29	63					0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26875323	26875323	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26875323T>C	ENST00000398141.1	-	1	24	c.25A>G	c.(25-27)Agg>Ggg	p.R9G	HPS4_ENST00000402105.3_Missense_Mutation_p.R9G|HPS4_ENST00000336873.5_Splice_Site|HPS4_ENST00000398145.2_Splice_Site			Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	14					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TAATTCCACCTGGCAAGAGAA	0.438000									Hermansky-Pudlak syndrome				6	11					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140207946	140207946	+	Silent	SNP	C	C	T	rs140846988	byFrequency	TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140207946C>T	ENST00000529310.1	+	1	384	c.270C>T	c.(268-270)atC>atT	p.I90I	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.I90I|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.1|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCTCGGATCGACCGCGAGG	0.602000													147	87					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410717	5410717	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5410717C>T	ENST00000328611.3	+	1	111	c.89C>T	c.(88-90)cCt>cTt	p.P30L	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	30						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCAGCTTTCCTGGATTGGAA	0.413000													41	123					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97136260	97136260	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:97136260C>T	ENST00000524981.3	+	19	2468	c.2468C>T	c.(2467-2469)tCc>tTc	p.S823F				Q6ZTY8	CL063_HUMAN		797										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						GATCCTATTTCCCTAAATGCC	0.368000													7	6					0	0	1	0	0
CLEC4F	165530	broad.mit.edu	37	2	71039588	71039588	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:71039588C>T	ENST00000272367.2	-	5	1606	c.1530G>A	c.(1528-1530)aaG>aaA	p.K510K	CLEC4F_ENST00000426626.1_Silent_p.K510K	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	510	C-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CCTGCTCCTCCTTGGAGGCCA	0.517000													14	95					0	0	1	0	0
TMEM139	135932	broad.mit.edu	37	7	142983718	142983718	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142983718C>T	ENST00000359333.3	+	3	960	c.447C>T	c.(445-447)tcC>tcT	p.S149S	TMEM139_ENST00000409102.1_Silent_p.S149S|AC073342.12_ENST00000427392.1_RNA|TMEM139_ENST00000409244.1_Silent_p.S149S|TMEM139_ENST00000409541.1_Silent_p.S149S|TMEM139_ENST00000471161.1_3'UTR|AC073342.12_ENST00000446192.1_RNA|TMEM139_ENST00000410004.1_Silent_p.S149S	NM_001242775.1	NP_001229704.1	Q8IV31	TM139_HUMAN	transmembrane protein 139	149						integral to membrane				endometrium(1)|lung(4)|ovary(1)|prostate(1)	7	Melanoma(164;0.059)					CAGAGGGGTCCATGGCCCAGG	0.607000													11	45					0	0	1	0	0
GON4L	54856	broad.mit.edu	37	1	155727095	155727095	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:155727095T>G	ENST00000437809.1	-	26	5395	c.5273A>C	c.(5272-5274)cAg>cCg	p.Q1758P	GON4L_ENST00000271883.5_Missense_Mutation_p.Q1758P|GON4L_ENST00000368331.1_Missense_Mutation_p.Q1758P			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1758	PAH 2.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTTGAGGAGCTGCCACATCTG	0.527000													33	86					0	0	1	0	0
HHAT	55733	broad.mit.edu	37	1	210761279	210761279	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:210761279C>T	ENST00000367010.1	+	10	1308	c.1081C>T	c.(1081-1083)Ctg>Ttg	p.L361L	HHAT_ENST00000367009.1_Silent_p.L51L|HHAT_ENST00000545781.1_Silent_p.L298L|HHAT_ENST00000541565.1_Silent_p.L224L|HHAT_ENST00000308852.6_Silent_p.L316L|HHAT_ENST00000413764.2_Silent_p.L361L|HHAT_ENST00000391905.3_Silent_p.L361L|HHAT_ENST00000261458.3_Silent_p.L361L|HHAT_ENST00000537898.1_Silent_p.L296L|HHAT_ENST00000545154.1_Silent_p.L362L	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	361					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCAGCATGGCCTGCTGGGGAC	0.562000													32	45					0	0	1	0	0
DCAF12L1	139170	broad.mit.edu	37	X	125685552	125685552	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:125685552C>T	ENST00000371126.1	-	1	1282	c.1040G>A	c.(1039-1041)cGa>cAa	p.R347Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	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													13	22					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24880359	24880359	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:24880359A>T	ENST00000313367.2	-	14	1896	c.1445T>A	c.(1444-1446)cTt>cAt	p.L482H	OSBPL3_ENST00000431825.2_Missense_Mutation_p.L415H|OSBPL3_ENST00000396431.1_Missense_Mutation_p.L451H|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L415H|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L446H|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L446H|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L451H	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	482					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ATCTAAGGAAAGATTATCACT	0.294000													14	31					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395752	156395752	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:156395752T>G	ENST00000461166.1	+	2	854	c.266T>G	c.(265-267)aTg>aGg	p.M89R	TIPARP_ENST00000295924.7_Missense_Mutation_p.M89R|TIPARP_ENST00000486483.1_Missense_Mutation_p.M89R|TIPARP_ENST00000542783.1_Missense_Mutation_p.M89R	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	89							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATGAACCTATGATGAAGAAA	0.408000													59	35					0	0	1	0	0
OR4K5	79317	broad.mit.edu	37	14	20389257	20389257	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20389257G>A	ENST00000315915.4	+	1	517	c.492G>A	c.(490-492)gtG>gtA	p.V164V		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTACTGTGAACCTGCCTT	0.443000													72	255					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37309285	37309285	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:37309285G>A	ENST00000231498.3	-	24	2916	c.2713C>T	c.(2713-2715)Caa>Taa	p.Q905*	NUP155_ENST00000381843.2_Nonsense_Mutation_p.Q846*|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Nonsense_Mutation_p.Q841*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	905					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTAATTTTTTGATATTCCTTT	0.343000													7	42					0	0	1	0	0
HIVEP2	3097	broad.mit.edu	37	6	143074868	143074868	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:143074868G>A	ENST00000367603.2	-	10	7459	c.6717C>T	c.(6715-6717)tcC>tcT	p.S2239S	HIVEP2_ENST00000367604.1_Silent_p.S2239S|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Silent_p.S2239S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGGCGGCATGGAGTGAACCA	0.552000													23	15					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130408835	130408835	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:130408835G>A	ENST00000370904.1	-	24	4372	c.3462C>T	c.(3460-3462)ccC>ccT	p.P1154P	IGSF1_ENST00000370903.3_Silent_p.P1168P|IGSF1_ENST00000370910.1_Silent_p.P1154P|IGSF1_ENST00000361420.3_Silent_p.P1163P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1163					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGACAGAGAGGGTTTAGGGG	0.478000													98	6					0	0	1	0	0
TPST2	8459	broad.mit.edu	37	22	26937305	26937305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:26937305C>T	ENST00000338754.4	-	3	562	c.292G>A	c.(292-294)Gag>Aag	p.E98K	TPST2_ENST00000398110.2_Missense_Mutation_p.E98K|TPST2_ENST00000403880.1_Missense_Mutation_p.E98K	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	98					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CGGGTCTCCTCGCCGCAGCGC	0.692000													10	17					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141758086	141758086	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141758086C>T	ENST00000475668.2	+	31	3831	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I	MGAM_ENST00000549489.2_Silent_p.I1259I			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1259	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCTGAGATCGCCAGCTTGT	0.498000													102	147					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587637	247587637	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:247587637C>T	ENST00000366497.2	+	4	1672	c.892C>T	c.(892-894)Ctc>Ttc	p.L298F	NLRP3_ENST00000336119.3_Missense_Mutation_p.L298F|NLRP3_ENST00000366496.2_Missense_Mutation_p.L298F|NLRP3_ENST00000391827.2_Missense_Mutation_p.L298F|NLRP3_ENST00000391828.3_Missense_Mutation_p.L298F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.L298F	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	298	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCCAGAATCCTCTTCCTCAT	0.582000													20	102					0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42150007	42150007	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:42150007C>T	ENST00000401548.3	+	17	1948	c.1908C>T	c.(1906-1908)aaC>aaT	p.N636N	MEI1_ENST00000540880.1_Intron|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_Silent_p.N376N|MEI1_ENST00000400107.1_Silent_p.N4N	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	636							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGCCTCAACCTTCTCTCAG	0.453000													27	57					0	0	1	0	0
CHD8	57680	broad.mit.edu	37	14	21860086	21860086	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:21860086G>T	ENST00000399982.2	-	34	6855	c.6791C>A	c.(6790-6792)aCa>aAa	p.T2264K	CHD8_ENST00000557364.1_Missense_Mutation_p.T2264K|CHD8_ENST00000430710.3_Missense_Mutation_p.T1985K	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2264					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTCTGGAATGTTAACTTCAA	0.433000													8	39					1.76689e-08	1.77599e-08	1	1	0
BCAR1	9564	broad.mit.edu	37	16	75263823	75263823	+	Silent	SNP	T	T	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:75263823T>G	ENST00000546196.1	-	7	3764	c.2112A>C	c.(2110-2112)acA>acC	p.T704T	BCAR1_ENST00000420641.3_Silent_p.T751T|BCAR1_ENST00000418647.3_Silent_p.T779T|BCAR1_ENST00000393420.6_Silent_p.T751T|BCAR1_ENST00000393422.2_Silent_p.T751T|BCAR1_ENST00000535626.2_Silent_p.T585T|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000538440.2_Silent_p.T733T|BCAR1_ENST00000162330.5_Silent_p.T733T|BCAR1_ENST00000542031.2_Silent_p.T731T			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	733					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCAGGCCGCCTGTTCGCCCCG	0.642000													45	2					0	0	1	0	0
TRABD2A	129293	broad.mit.edu	37	2	85049122	85049122	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:85049122G>A	ENST00000335459.5	-	6	1495	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	TRABD2A_ENST00000479944.1_5'UTR|TRABD2A_ENST00000409520.2_Silent_p.A479A	NM_001080824.1	NP_001074293.1			TraB domain containing 2A																		AGGCACTGCTGGCCACCATCT	0.607000													6	7					0	0	1	0	0
TMEM44	93109	broad.mit.edu	37	3	194346632	194346632	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:194346632T>A	ENST00000392432.2	-	3	557	c.352A>T	c.(352-354)Aat>Tat	p.N118Y	TMEM44_ENST00000347147.4_Missense_Mutation_p.N118Y|TMEM44_ENST00000473092.1_Missense_Mutation_p.N118Y|TMEM44_ENST00000330115.3_Missense_Mutation_p.N15Y|TMEM44_ENST00000381975.3_Missense_Mutation_p.N118Y|TMEM44_ENST00000273580.7_Missense_Mutation_p.N118Y	NM_001166305.1	NP_001159777.1	Q2T9K0	TMM44_HUMAN	transmembrane protein 44	118						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		TCACCTGAATTAGACTTGAAT	0.473000													28	70					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868590	150868590	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:150868590G>A	ENST00000370353.3	+	3	520	c.130G>A	c.(130-132)Gag>Aag	p.E44K	PRRG3_ENST00000538575.1_Missense_Mutation_p.E44K|PRRG3_ENST00000370354.1_Missense_Mutation_p.E52K			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	44	Gla.					extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAGCTACGAGGAGGTCAA	0.552000													47	6					0	0	1	0	0
BCL3	602	broad.mit.edu	37	19	45260400	45260400	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:45260400C>T	ENST00000164227.5	+	4	890	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	216					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				GTGCGAGCACCGCAGCCCGAC	0.682000			T	IGH@	CLL								22	41					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109862585	109862585	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109862585G>A	ENST00000310903.5	+	17	1735	c.1629G>A	c.(1627-1629)agG>agA	p.R543R	MYO1H_ENST00000431443.2_Silent_p.R553R			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTATCCTGAGGGAATGCTTCC	0.507000													7	39					0	0	1	0	0
CST11	140880	broad.mit.edu	37	20	23432486	23432486	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:23432486C>T	ENST00000377009.3	-	2	333	c.300G>A	c.(298-300)acG>acA	p.T100T	CST11_ENST00000377007.3_Intron	NM_130794.1	NP_570612.1	Q9H112	CST11_HUMAN	cystatin 11	100					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity	p.T100T(1)		kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					GGACACAGTTCGTGGTCTCTG	0.522000													18	51					0	0	1	0	0
ZNF267	10308	broad.mit.edu	37	16	31926743	31926743	+	Silent	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:31926743T>A	ENST00000300870.10	+	4	1382	c.1173T>A	c.(1171-1173)cgT>cgA	p.R391R	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	391					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						CTTTTACTCGTTCCTCCAATC	0.353000													22	23					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49754784	49754784	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:49754784C>T	ENST00000304801.3	-	1	269	c.117G>A	c.(115-117)agG>agA	p.R39R		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	39					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AAGCCTTGATCCTCTGGTTGT	0.463000													24	105					0	0	1	0	0
MYH14	79784	broad.mit.edu	37	19	50789892	50789892	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:50789892C>T	ENST00000440075.2	+	34	4740	c.4693C>T	c.(4693-4695)Cgg>Tgg	p.R1565W	MYH14_ENST00000596571.1_Missense_Mutation_p.R1524W|MYH14_ENST00000262269.8_Missense_Mutation_p.R1565W|MYH14_ENST00000601313.1_Missense_Mutation_p.R1565W|MYH14_ENST00000598205.1_Missense_Mutation_p.R1532W|MYH14_ENST00000376970.2_Missense_Mutation_p.R1557W|MYH14_ENST00000425460.1_Missense_Mutation_p.R1532W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1524					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCAGAACCGGGCCCTGCG	0.711000													5	17					0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32125932	32125932	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:32125932G>A	ENST00000054950.3	+	6	1203	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	RCN1_ENST00000532942.1_Missense_Mutation_p.E253K|RP1-65P5.3_ENST00000533009.1_RNA	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	304	EF-hand 6.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AACTAAAGAGGAAATATTGGA	0.403000													3	17					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26584716	26584716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:26584716C>T	ENST00000436318.2	-	3	1005	c.872G>A	c.(871-873)aGg>aAg	p.R291K	MUC15_ENST00000455601.2_Missense_Mutation_p.R264K|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.R291K			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	264						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						ATCCGTTTTCCTTTTTCCACA	0.393000													15	55					0	0	1	0	0
CATSPER2	117155	broad.mit.edu	37	15	43939270	43939270	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43939270C>T	ENST00000396879.1	-	5	478	c.366G>A	c.(364-366)acG>acA	p.T122T	STRC_ENST00000541030.1_Intron|CATSPER2_ENST00000355438.2_Silent_p.T122T|CATSPER2_ENST00000381761.1_Silent_p.T128T|CATSPER2_ENST00000354127.4_Silent_p.T122T|CATSPER2_ENST00000321596.5_Silent_p.T122T			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	122					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|protein binding|voltage-gated ion channel activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCAATATGATCGTATTCAAAA	0.438000													36	41					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273236	26273236	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:26273236G>A	ENST00000377733.2	+	1	93	c.33G>A	c.(31-33)ccG>ccA	p.P11P		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	11					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CTCCCGCCCCGAAGAAGGGCT	0.557000													32	135					0	0	1	0	0
SAMSN1	64092	broad.mit.edu	37	21	15873009	15873009	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:15873009C>T	ENST00000285670.2	-	7	987	c.813G>A	c.(811-813)tgG>tgA	p.W271*	SAMSN1_ENST00000400564.1_Nonsense_Mutation_p.W35*|SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.W203*	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	203	SAM.				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ACATTCCTGTCCACATCCCCA	0.388000													26	101					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26714877	26714877	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:26714877G>A	ENST00000381340.3	-	35	5055	c.4639C>T	c.(4639-4641)Cgt>Tgt	p.R1547C		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1547					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCAATTCCACGATTTTTTGCT	0.323000													4	23					0	0	1	0	0
YIF1A	10897	broad.mit.edu	37	11	66052985	66052985	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66052985G>A	ENST00000376901.4	-	6	692	c.508C>T	c.(508-510)Ctg>Ttg	p.L170L	YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000471387.2_Silent_p.L27L|YIF1A_ENST00000526497.1_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	170					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CTTGCACACAGGCCCAGCACC	0.652000													10	41					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129859247	129859247	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129859247T>A	ENST00000254667.3	+	8	835	c.556T>A	c.(556-558)Tgt>Agt	p.C186S	PTPRE_ENST00000419012.2_Missense_Mutation_p.C186S|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000306042.5_Missense_Mutation_p.C128S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	186	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				TGGAATTCCCTGTTCAGACTA	0.463000													8	32					0	0	1	0	0
TULP1	7287	broad.mit.edu	37	6	35477623	35477623	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35477623C>T	ENST00000229771.6	-	6	661	c.582G>A	c.(580-582)atG>atA	p.M194I	TULP1_ENST00000322263.4_Missense_Mutation_p.M141I	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	194					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TGGTCTTTCTCATCTTGGTCC	0.572000													39	187					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74944723	74944723	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:74944723C>T	ENST00000569840.2	+	18	2756	c.2180_splice	c.e18-1	p.L728_splice	MGAT5B_ENST00000428789.2_Splice_Site_p.L737_splice|MGAT5B_ENST00000301618.4_Splice_Site_p.L726_splice	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	728						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCTGCCAGGCTGCAGGTGCC	0.667000													7	21					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8871210	8871210	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:8871210G>A	ENST00000256707.3	-	30	5137	c.4956C>T	c.(4954-4956)agC>agT	p.S1652S	KIDINS220_ENST00000473731.1_Silent_p.S1633S|KIDINS220_ENST00000427284.1_Silent_p.S1633S|KIDINS220_ENST00000418530.1_Silent_p.S1553S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1652					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATTCGGAAGGGCTTTTCTTGT	0.517000													16	99					0	0	1	0	0
BAHCC1	57597	broad.mit.edu	37	17	79411764	79411764	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:79411764C>T	ENST00000307745.7	+	12	2583	c.2583C>T	c.(2581-2583)ccC>ccT	p.P861P																								GCCCTGTGCCCTCTGTCTTCC	0.716000													20	27					0	0	1	0	0
TMEM72	643236	broad.mit.edu	37	10	45430456	45430456	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:45430456C>T	ENST00000544540.1	+	4	832	c.348C>T	c.(346-348)tcC>tcT	p.S116S	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	234						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						TAGTCCCCTCCCTCGCCGAAG	0.607000													24	83					0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26851655	26851655	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:26851655C>T	ENST00000226247.2	+	2	287	c.258C>T	c.(256-258)ccC>ccT	p.P86P	FOXN1_ENST00000579795.1_Silent_p.P86P	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	86					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P86P(1)		endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGCCGGCCCCGGCCCTGGGC	0.687000													23	26					0	0	1	0	0
TK2	7084	broad.mit.edu	37	16	66545943	66545943	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:66545943C>T	ENST00000299697.7	-	10	1076	c.852G>A	c.(850-852)gaG>gaA	p.E284E	TK2_ENST00000564917.1_Silent_p.E259E|RP11-403P17.5_ENST00000561728.1_Intron|TK2_ENST00000544898.1_Silent_p.E193E|TK2_ENST00000545043.2_Silent_p.E217E|TK2_ENST00000451102.2_Silent_p.E242E|TK2_ENST00000417693.3_Silent_p.E224E|TK2_ENST00000563369.2_Silent_p.E145E|TK2_ENST00000527284.1_Silent_p.E211E|TK2_ENST00000527800.1_Silent_p.E145E|TK2_ENST00000525974.1_Silent_p.E145E	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	242					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		CTAACATCCTCTCCATGTGGT	0.483000													12	23					0	0	1	0	0
AMBN	258	broad.mit.edu	37	4	71472212	71472212	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71472212G>A	ENST00000322937.6	+	13	1212	c.1109G>A	c.(1108-1110)gGg>gAg	p.G370E	AMBN_ENST00000449493.2_Missense_Mutation_p.G355E	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	370					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			AGCCCTTCAGGGAAGATGAAG	0.562000													11	77					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215884085	215884085	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:215884085G>T	ENST00000272895.7	-	13	1851	c.1632C>A	c.(1630-1632)aaC>aaA	p.N544K	ABCA12_ENST00000389661.4_Missense_Mutation_p.N226K	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	544					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATCTGCACTGTTATTGACAT	0.388000													22	18					2.32416e-17	2.34821e-17	1	1	0
KIF5C	3800	broad.mit.edu	37	2	149864535	149864535	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:149864535C>T	ENST00000435030.1	+	23	2872	c.2504C>T	c.(2503-2505)tCc>tTc	p.S835F	KIF5C_ENST00000414838.2_Missense_Mutation_p.S740F|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.S603F			O60282	KIF5C_HUMAN	kinesin family member 5C	835					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CAGAAAATTTCCTTCTTGGAG	0.542000													9	43					0	0	1	0	0
TIMM50	92609	broad.mit.edu	37	19	39976380	39976380	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:39976380C>T	ENST00000314349.4	+	6	867	c.734C>T	c.(733-735)cCg>cTg	p.P245L	TIMM50_ENST00000544017.1_Missense_Mutation_p.P29L|TIMM50_ENST00000607714.1_Missense_Mutation_p.P142L|TIMM50_ENST00000599794.1_Intron	NM_001001563.1	NP_001001563.1	Q3ZCQ8	TIM50_HUMAN	translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)	142	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTGCAGGAACCGTACTACCAG	0.622000													17	53					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139564069	139564069	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:139564069C>T	ENST00000358430.3	-	10	1881	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	RP1-225E12.3_ENST00000585874.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	550						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CTCTGAATCCCGTGAAGGGAT	0.592000													29	34					0	0	1	0	0
SYNDIG1	79953	broad.mit.edu	37	20	24524174	24524174	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:24524174C>T	ENST00000376862.3	+	2	1074	c.441C>T	c.(439-441)tcC>tcT	p.S147S		NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	147					response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						ACACCCTGTCCTACGATGTGG	0.547000													69	65					0	0	1	0	0
MCMDC2	157777	broad.mit.edu	37	8	67803281	67803281	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:67803281G>A	ENST00000422365.2	+	10	1426	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	MCMDC2_ENST00000541540.1_Missense_Mutation_p.D356N|MCMDC2_ENST00000396592.3_Missense_Mutation_p.D419N|MCMDC2_ENST00000313616.5_Missense_Mutation_p.D419N	NM_173518.4	NP_775789.3	Q4G0Z9	CH045_HUMAN	minichromosome maintenance domain containing 2	419					DNA replication		ATP binding|DNA binding			endometrium(2)|kidney(2)|lung(5)	9						ACACAAAAAAGATAAACTTGA	0.358000													27	11					0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133650240	133650240	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:133650240G>A	ENST00000519595.1	-	4	468	c.370C>T	c.(370-372)Cca>Tca	p.P124S	LRRC6_ENST00000520446.1_5'UTR|LRRC6_ENST00000250173.1_Missense_Mutation_p.P124S|LRRC6_ENST00000518642.1_Missense_Mutation_p.P124S			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	124	LRRCT.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GAAGCACATGGGTTCCCCATG	0.423000													32	10					0	0	1	0	0
C11orf24	53838	broad.mit.edu	37	11	68029501	68029501	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:68029501G>A	ENST00000304271.6	-	4	1364	c.962C>T	c.(961-963)tCc>tTc	p.S321F	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	321	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGTCGTGGGGGACATGGCCTC	0.637000													9	46					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25458130	25458130	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:25458130G>A	ENST00000381884.4	-	16	3980	c.3795C>T	c.(3793-3795)ttC>ttT	p.F1265F	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1265					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TACCATCTGGGAAAATGCTTT	0.398000													31	4					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162137	47162137	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47162137G>A	ENST00000409792.3	-	3	4031	c.3989C>T	c.(3988-3990)tCc>tTc	p.S1330F		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGTTAGGGAATCTGGTAC	0.453000			"""N, F, S, Mis"""		clear cell renal carcinoma								19	55					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1079242	1079242	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1079242C>T	ENST00000308624.5	+	2	240	c.111C>T	c.(109-111)tcC>tcT	p.S37S	SNTG2_ENST00000407292.1_Silent_p.S37S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	37					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATGAAGAGTCCGAAAATGCCT	0.493000													19	114					0	0	1	0	0
FBXO24	26261	broad.mit.edu	37	7	100187615	100187615	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:100187615C>T	ENST00000241071.6	+	2	377	c.55C>T	c.(55-57)Cct>Tct	p.P19S	FBXO24_ENST00000360609.2_Missense_Mutation_p.P19S|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000468962.1_Missense_Mutation_p.P7S|FBXO24_ENST00000465843.1_Missense_Mutation_p.P19S|FBXO24_ENST00000427939.2_Missense_Mutation_p.P57S|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	19						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GAGAAGCTGCCCTTCTTGTGG	0.562000													55	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179397749	179397749	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179397749C>T	ENST00000589042.1	-	358	103817	c.103593G>A	c.(103591-103593)aaG>aaA	p.K34531K	TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.K31963K|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000460472.2_Silent_p.K25466K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Silent_p.K25591K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN_ENST00000342175.6_Silent_p.K25658K|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Silent_p.K32890K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32890							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTCCTCCTTCTTTTCTT	0.458000													48	144					0	0	1	0	0
RNF208	727800	broad.mit.edu	37	9	140115071	140115071	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:140115071G>A	ENST00000392827.1	-	2	762	c.594C>T	c.(592-594)gaC>gaT	p.D198D	RNF208_ENST00000391553.1_Silent_p.D198D			Q9H0X6	RN208_HUMAN	ring finger protein 208	198							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CCAGGCCGTAGTCGGTGAAGA	0.662000													11	14					0	0	1	0	0
SDK1	221935	broad.mit.edu	37	7	4091446	4091446	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:4091446C>T	ENST00000404826.2	+	19	3034	c.2895C>T	c.(2893-2895)gtC>gtT	p.V965V	SDK1_ENST00000389531.3_Silent_p.V965V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	965	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCAGCTGGTCTGGACTCAGG	0.522000													86	129					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55566674	55566674	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:55566674G>A	ENST00000373965.2	-	36	5114	c.4720C>T	c.(4720-4722)Cga>Tga	p.R1574*	PCDH15_ENST00000414778.1_Nonsense_Mutation_p.R1571*	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	425					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCTCCCAGTCGAACAGGGGAA	0.453000										HNSCC(58;0.16)			56	83					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326950	152326950	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152326950T>C	ENST00000388718.5	-	3	3384	c.3312A>G	c.(3310-3312)caA>caG	p.Q1104Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1104	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCCTGTGTTGTCCAAATC	0.507000													227	194					0	0	1	0	0
SLC22A2	6582	broad.mit.edu	37	6	160677690	160677690	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160677690T>C	ENST00000366952.1	-	4	1892	c.411A>G	c.(409-411)gtA>gtG	p.V137V	SLC22A2_ENST00000491092.1_Intron|SLC22A2_ENST00000366953.3_Silent_p.V158V			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	158					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TAAAGAATCCTACATTCACTG	0.453000													27	45					0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133562	22133562	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:22133562G>A	ENST00000408935.1	+	1	266	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTTTTAGAAAGAAAGACCATT	0.443000													122	121					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7632482	7632482	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:7632482C>T	ENST00000359156.4	-	16	3656	c.3454G>A	c.(3454-3456)Gaa>Aaa	p.E1152K	CD163_ENST00000541972.1_3'UTR|CD163_ENST00000396620.3_3'UTR|CD163_ENST00000432237.2_3'UTR	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1152					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TTCCCATTTTCCTTTTCAGTG	0.403000													21	30					0	0	1	0	0
TLE6	79816	broad.mit.edu	37	19	2993568	2993568	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2993568T>C	ENST00000246112.4	+	15	1726	c.1525T>C	c.(1525-1527)Ttc>Ctc	p.F509L	TLE6_ENST00000452088.1_Missense_Mutation_p.F386L	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)	386					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGCGTCAAGTTCTCCCCCTT	0.642000													23	18					0	0	1	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443499	5443499	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5443499G>A	ENST00000300778.4	+	1	159	c.69G>A	c.(67-69)gaG>gaA	p.E23E	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGATTTGAGGCCTCCCACA	0.507000													39	127					0	0	1	0	0
KIAA1549	57670	broad.mit.edu	37	7	138601855	138601855	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:138601855G>A	ENST00000440172.1	-	2	2565	c.2517C>T	c.(2515-2517)atC>atT	p.I839I	KIAA1549_ENST00000422774.1_Silent_p.I839I|KIAA1549_ENST00000242365.4_Silent_p.I789I	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	839						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACGCGTCAGTGATCAACACCG	0.562000			O	BRAF	pilocytic astrocytoma								16	15					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1251210	1251210	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1251210C>T	ENST00000308624.5	+	12	1129	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SNTG2_ENST00000407292.1_Missense_Mutation_p.P207S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	334	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TTTCAGCACTCCTCCGGTAAG	0.547000													40	18					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192218	152192218	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:152192218G>A	ENST00000368801.2	-	3	1962	c.1887C>T	c.(1885-1887)acC>acT	p.T629T	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	629					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGACCTGAGGTAGCTCCAT	0.567000													222	239					0	0	1	0	0
CLVS1	157807	broad.mit.edu	37	8	62212777	62212777	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:62212777G>A	ENST00000519846.1	+	3	863	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	CLVS1_ENST00000325897.4_Missense_Mutation_p.E131K|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron			Q8IUQ0	CLVS1_HUMAN	clavesin 1	131	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CGGGGTGCTGGAAAACCGAGA	0.463000													9	34					0	0	1	0	0
HIST1H2AA	221613	broad.mit.edu	37	6	25726628	25726628	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:25726628C>G	ENST00000297012.3	-	1	162	c.128G>C	c.(127-129)cGg>cCg	p.R43P		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	43					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGCCCCTATCCGCTCTGCATA	0.527000													12	50					0	0	1	0	0
OR4C16	219428	broad.mit.edu	37	11	55340394	55340394	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:55340394C>T	ENST00000314634.3	+	1	791	c.791C>T	c.(790-792)cCc>cTc	p.P264L		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ACCGTATTCCCCATGGATAAG	0.398000													22	30					0	0	1	0	0
KCNA10	3744	broad.mit.edu	37	1	111060963	111060963	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:111060963C>T	ENST00000369771.2	-	1	834	c.447G>A	c.(445-447)ggG>ggA	p.G149G		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	149						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCGAATTTTCCCACCAGATT	0.448000													22	23					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49366359	49366359	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:49366359C>T	ENST00000371610.2	+	3	696	c.453C>T	c.(451-453)ctC>ctT	p.L151L	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	151	Interaction with PARD3 and CDC42 (By similarity).				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						TGGATATTCTCCCAGAAACGC	0.458000													37	28					0	0	1	0	0
GABRA2	2555	broad.mit.edu	37	4	46314659	46314659	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:46314659G>A	ENST00000510861.1	-	5	503	c.330C>T	c.(328-330)atC>atT	p.I110I	GABRA2_ENST00000507069.1_Silent_p.I110I|GABRA2_ENST00000540012.1_Silent_p.I55I|GABRA2_ENST00000381620.4_Silent_p.I110I|GABRA2_ENST00000515082.1_Silent_p.I110I|GABRA2_ENST00000514090.1_Silent_p.I110I|GABRA2_ENST00000356504.1_Silent_p.I110I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	110					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTAGTCGAAGGATATTCATAG	0.289000													33	6					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547329	43547329	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43547329C>T	ENST00000400427.1	+	18	4071	c.3675C>T	c.(3673-3675)atC>atT	p.I1225I	UMODL1_ENST00000408989.2_Silent_p.I1297I|UMODL1_ENST00000400424.1_Silent_p.I1097I|UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000408910.2_Silent_p.I1169I	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1169	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGGACCCCATCACCTTCAGCT	0.557000													10	47					0	0	1	0	0
KIAA1551	55196	broad.mit.edu	37	12	32136356	32136356	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:32136356G>A	ENST00000312561.4	+	4	2881	c.2467G>A	c.(2467-2469)Gca>Aca	p.A823T	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TGGACCAGTAGCAAGTACAGC	0.378000													9	39					0	0	1	0	0
GRM3	2913	broad.mit.edu	37	7	86469047	86469047	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:86469047C>T	ENST00000361669.2	+	4	3316	c.2217C>T	c.(2215-2217)atC>atT	p.I739I	GRM3_ENST00000536043.1_Silent_p.I611I|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Silent_p.I331I	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	739					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCATGTTGATCTCTCTTACCT	0.478000													25	39					0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	96945167	96945167	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:96945167C>T	ENST00000389672.5	+	4	1212	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	EPHA6_ENST00000470610.2_Missense_Mutation_p.P392S	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	297	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TAAATGTCCTCCACACAGTTT	0.373000													60	31					0	0	1	0	0
ECE2	9718	broad.mit.edu	37	3	184008852	184008852	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184008852A>G	ENST00000402825.3	+	17	2213	c.2213A>G	c.(2212-2214)aAc>aGc	p.N738S	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.N666S|ECE2_ENST00000404464.3_Missense_Mutation_p.N620S|ECE2_ENST00000359140.4_Missense_Mutation_p.N591S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	738	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AAAGAAGGGAACCTGCGGCCC	0.597000													29	86					0	0	1	0	0
HS3ST3A1	9955	broad.mit.edu	37	17	13503904	13503904	+	Silent	SNP	C	C	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:13503904C>G	ENST00000284110.1	-	1	1340	c.543G>C	c.(541-543)gtG>gtC	p.V181V		NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	181						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GCTCGGCGCCCACGGCGCGCA	0.721000													3	17					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	124097545	124097545	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:124097545C>T	ENST00000422452.2	-	1	121	c.58G>A	c.(58-60)Gat>Aat	p.D20N	TENM1_ENST00000371130.3_Missense_Mutation_p.D20N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TAAGCTAGATCCATTTCATGC	0.443000													47	64					0	0	1	0	0
MYPOP	339344	broad.mit.edu	37	19	46393919	46393919	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:46393919G>A	ENST00000322217.5	-	3	1248	c.1162C>T	c.(1162-1164)Cct>Tct	p.P388S		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	388						nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						TTCCGTGTAGGGAAACCTTTT	0.642000													7	45					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124315153	124315153	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:124315153C>T	ENST00000409039.3	+	25	4123	c.4098C>T	c.(4096-4098)acC>acT	p.T1366T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1366	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAACGTTCACCTTGGAAAATA	0.388000													21	30					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67829092	67829092	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:67829092G>A	ENST00000433211.1	-	15	2307	c.2133C>T	c.(2131-2133)atC>atT	p.I711I	CTNNA3_ENST00000373735.1_Silent_p.I50I|CTNNA3_ENST00000373744.4_Silent_p.I711I	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	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													53	61					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834219	61834219	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:61834219G>A	ENST00000280772.1	-	37	6611	c.6420C>T	c.(6418-6420)gcC>gcT	p.A2140A	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2140					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CGCTTTGTGGGGCTGAAGGTG	0.423000													21	73					0	0	1	0	0
INHBC	3626	broad.mit.edu	37	12	57843538	57843538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:57843538G>A	ENST00000309668.2	+	2	919	c.792G>A	c.(790-792)tgG>tgA	p.W264*	INHBC_ENST00000550133.1_Intron	NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	264					growth	extracellular region	growth factor activity|hormone activity|transforming growth factor beta receptor binding			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						GGCACGACTGGATCATCCAGC	0.552000													12	35					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29055971	29055971	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:29055971C>T	ENST00000257189.4	+	16	2831	c.2748C>T	c.(2746-2748)gtC>gtT	p.V916V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	916					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGGGTCTGTCCAGCCAGCTG	0.522000													21	35					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107872917	107872917	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:107872917G>A	ENST00000379028.3	-	7	750	c.280C>T	c.(280-282)Ctg>Ttg	p.L94L	NRCAM_ENST00000379022.4_Silent_p.L94L|NRCAM_ENST00000351718.4_Silent_p.L88L|NRCAM_ENST00000379024.4_Silent_p.L94L|NRCAM_ENST00000425651.2_Silent_p.L94L|NRCAM_ENST00000413765.2_Silent_p.L94L			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	94	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ATGGTGACCAGAGGGTCTTTA	0.453000													28	52					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240144	237240144	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:237240144C>T	ENST00000409907.3	-	18	2505	c.2231G>A	c.(2230-2232)gGa>gAa	p.G744E	IQCA1_ENST00000431676.2_Missense_Mutation_p.G703E|IQCA1_ENST00000309507.5_Missense_Mutation_p.G741E			Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	744							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GACTATATGTCCTTGGGTGAA	0.493000													15	56					0	0	1	0	0
RAD54B	25788	broad.mit.edu	37	8	95390826	95390826	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:95390826G>A	ENST00000336148.5	-	13	2408	c.2284C>T	c.(2284-2286)Cct>Tct	p.P762S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			ATATGTACAGGATATTTCTGA	0.353000								Direct reversal of damage;Homologous recombination					8	26					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2924882	2924882	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:2924882C>T	ENST00000397461.1	+	8	1090	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	CNTN4_ENST00000418658.1_Missense_Mutation_p.P236S|CNTN4_ENST00000358480.3_Missense_Mutation_p.P17S|CNTN4_ENST00000427331.1_Missense_Mutation_p.P236S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	236	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAACAGTTCCGACTGCAAA	0.433000													11	12					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88678460	88678460	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:88678460G>A	ENST00000394480.1	-	10	1397	c.1076C>T	c.(1075-1077)tCc>tTc	p.S359F	NTRK3_ENST00000360948.2_Missense_Mutation_p.S359F|NTRK3_ENST00000540489.2_Missense_Mutation_p.S359F|NTRK3_ENST00000355254.2_Missense_Mutation_p.S359F|NTRK3_ENST00000357724.2_Missense_Mutation_p.S359F|NTRK3_ENST00000557856.1_Missense_Mutation_p.S359F|NTRK3_ENST00000558676.1_Missense_Mutation_p.S359F|NTRK3_ENST00000317501.3_Missense_Mutation_p.S359F|NTRK3_ENST00000542733.2_Missense_Mutation_p.S261F	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	359	Ig-like C2-type 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GCAGCCCTCGGAAATCTCTCC	0.552000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			42	110					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34117202	34117202	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:34117202G>A	ENST00000331923.4	-	13	2280	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D	PAXBP1_ENST00000290178.4_Silent_p.D697D	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		TAGAAAAAGGGTCCCACATAT	0.333000													38	64					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89895081	89895081	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:89895081G>A	ENST00000435811.1	-	6	1147	c.693C>T	c.(691-693)ttC>ttT	p.F231F	GABRR1_ENST00000369451.3_Silent_p.F161F|GABRR1_ENST00000454853.2_Silent_p.F248F	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	248					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	CCTGAATGAGGAACTGGGAGA	0.488000													32	30					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167035383	167035383	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:167035383G>T	ENST00000392766.2	-	13	1326	c.986C>A	c.(985-987)aCt>aAt	p.T329N	ZBBX_ENST00000307529.5_Missense_Mutation_p.T329N|ZBBX_ENST00000455345.2_Missense_Mutation_p.T329N|ZBBX_ENST00000469220.1_Intron|ZBBX_ENST00000392767.2_Missense_Mutation_p.T329N|ZBBX_ENST00000392764.1_Missense_Mutation_p.T300N	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	329						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CTCTTGTGGAGTTCTACAAAA	0.343000													20	33					1.33834e-09	1.34646e-09	1	1	0
ZNF99	7652	broad.mit.edu	37	19	22941681	22941681	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22941681C>T	ENST00000397104.3	-	5	756	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	ZNF99_ENST00000596209.1_Missense_Mutation_p.E344K					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CCACATTCTTCACATTTGTAG	0.383000													11	25					0	0	1	0	0
MED12	9968	broad.mit.edu	37	X	70346835	70346835	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:70346835G>A	ENST00000333646.6	+	20	2901	c.2702G>A	c.(2701-2703)aGt>aAt	p.S901N	MED12_ENST00000374080.3_Missense_Mutation_p.S901N|MED12_ENST00000374102.1_Missense_Mutation_p.S901N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	901					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AATGAACTGAGTGTAGTTGAG	0.537000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						39	5					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168096985	168096985	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:168096985C>T	ENST00000519560.1	-	35	4558	c.4139G>A	c.(4138-4140)gGa>gAa	p.G1380E	SLIT3_ENST00000404867.3_Missense_Mutation_p.G1380E|SLIT3_ENST00000332966.8_Missense_Mutation_p.G1387E	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053.1	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1380	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACACATTTTCCATGGTGGCA	0.567000													10	22					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82784273	82784273	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82784273C>T	ENST00000423517.2	-	2	2021	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	PCLO_ENST00000333891.8_Missense_Mutation_p.G562R	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	508	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTCCAGATCCTGTTTGGCTT	0.522000													252	224					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43504285	43504285	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:43504285C>T	ENST00000400427.1	+	3	591	c.195C>T	c.(193-195)atC>atT	p.I65I	UMODL1_ENST00000408989.2_Silent_p.I137I|UMODL1_ENST00000400424.1_Silent_p.I65I|UMODL1_ENST00000408910.2_Silent_p.I137I	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	137	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCTTGGACATCGACTGTCCTG	0.642000													30	116					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204695	27204695	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:27204695G>A	ENST00000343483.6	-	1	454	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W	RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000396345.1_Intron|HOXA9_ENST00000497089.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	128							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CCATAAGGCCGGCTGGAGGGC	0.662000			T	"""NUP98, MSI2"""	AML*								7	38					0	0	1	0	0
PSENEN	55851	broad.mit.edu	37	19	36236317	36236317	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:36236317G>A	ENST00000587708.2	+	0	303				U2AF1L4_ENST00000292879.5_5'UTR|U2AF1L4_ENST00000588100.1_5'UTR|AD000671.6_ENST00000589807.1_5'UTR			Q9NZ42	PEN2_HUMAN	presenilin enhancer gamma secretase subunit						amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	aspartic-type endopeptidase activity|protein binding			central_nervous_system(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCAGGTCTGGCTGCTCTTAC	0.562000													40	75					0	0	1	0	0
TBC1D5	9779	broad.mit.edu	37	3	17279834	17279834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:17279834G>A	ENST00000253692.7	-	17	3073	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	TBC1D5_ENST00000429383.4_Missense_Mutation_p.S470F|TBC1D5_ENST00000414318.2_5'UTR|TBC1D5_ENST00000446818.2_Missense_Mutation_p.S470F|TBC1D5_ENST00000429924.2_Missense_Mutation_p.S422F	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	470						intracellular	protein binding|Rab GTPase activator activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						CATTGCTGGGGAAATCAACTT	0.473000													12	22					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3326245	3326245	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3326245G>A	ENST00000520002.1	-	13	2108	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	CSMD1_ENST00000539096.1_Missense_Mutation_p.A517V|CSMD1_ENST00000400186.3_Missense_Mutation_p.A518V|CSMD1_ENST00000602557.1_Missense_Mutation_p.A518V|CSMD1_ENST00000537824.1_Missense_Mutation_p.A517V|CSMD1_ENST00000542608.1_Missense_Mutation_p.A517V|CSMD1_ENST00000602723.1_Missense_Mutation_p.A518V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	518	CUB 3.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTGGTAAACAGCTTTAAACCC	0.463000													4	10					0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	8005991	8005991	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:8005991G>C	ENST00000270538.3	-	2	405	c.137C>G	c.(136-138)cCa>cGa	p.P46R		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	46					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						ACTCACCAGTGGCAGCTCTCC	0.607000													22	43					0	0	1	0	0
PLD4	122618	broad.mit.edu	37	14	105394151	105394151	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:105394151C>T	ENST00000540372.1	+	3	445	c.253C>T	c.(253-255)Cca>Tca	p.P85S	PLD4_ENST00000392593.4_Missense_Mutation_p.P78S			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	78					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	TGGCTCCAGCCCAGCTTGGGA	0.672000													11	17					0	0	1	0	0
SBF1	6305	broad.mit.edu	37	22	50901136	50901136	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:50901136G>A	ENST00000380817.2	-	18	2162	c.1979C>T	c.(1978-1980)cCg>cTg	p.P660L	SBF1_ENST00000390679.3_Missense_Mutation_p.P660L|SBF1_ENST00000348911.6_Missense_Mutation_p.P661L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1	660					protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CGTCACCCCCGGGCTCAGCTT	0.632000													9	16					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179453500	179453500	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179453500C>T	ENST00000589042.1	-	304	63176	c.62952G>A	c.(62950-62952)tgG>tgA	p.W20984*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W18416*|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W11919*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W12044*|TTN_ENST00000342175.6_Nonsense_Mutation_p.W12111*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W19343*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19343	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGTGGATTCCAAACCACAG	0.418000													15	37					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19566125	19566125	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:19566125C>T	ENST00000328041.6	+	6	746	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	183						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGGCACCATCGTGGGCTCAG	0.542000													78	123					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3000143	3000143	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:3000143C>T	ENST00000520002.1	-	42	6643	c.6088G>A	c.(6088-6090)Gaa>Aaa	p.E2030K	CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000539096.1_Missense_Mutation_p.E2029K|CSMD1_ENST00000400186.3_Missense_Mutation_p.E2030K|CSMD1_ENST00000602557.1_Missense_Mutation_p.E2030K|CSMD1_ENST00000537824.1_Missense_Mutation_p.E2029K|CSMD1_ENST00000542608.1_Missense_Mutation_p.E2029K|CSMD1_ENST00000602723.1_Missense_Mutation_p.E2030K			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2030	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTTGAATTTCAAGGAAGTCA	0.423000													27	118					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179604892	179604892	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179604892G>A	ENST00000589042.1	-	48	13292	c.13068C>T	c.(13066-13068)atC>atT	p.I4356I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Silent_p.I3993I|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.I4118I|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Silent_p.I4185I|TTN_ENST00000591111.1_Silent_p.I4039I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4039	Ig-like 23.						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)			TAGACTCAATGATTTGGTCTG	0.458000													48	28					0	0	1	0	0
BRINP1	1620	broad.mit.edu	37	9	121929979	121929979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:121929979C>T	ENST00000265922.3	-	8	2130	c.1669G>A	c.(1669-1671)Gac>Aac	p.D557N	DBC1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		557					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AACATGGGGTCCAGGCTGCTG	0.552000													28	2					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	9002352	9002352	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:9002352G>A	ENST00000299698.7	+	17	2296	c.2116G>A	c.(2116-2118)Ggt>Agt	p.G706S	A2ML1_ENST00000539547.1_Missense_Mutation_p.G215S	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	550						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						CACTGCTATGGGTGGTAAGCC	0.483000													17	63					0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160953632	160953632	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:160953632C>A	ENST00000447678.1	-	39	6012	c.5892G>T	c.(5890-5892)gaG>gaT	p.E1964D	LPA_ENST00000316300.5_Missense_Mutation_p.E1964D|LPA_ENST00000484276.1_Intron	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	4472	Kringle 18.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACACTTCATTCTCAATAACAA	0.418000													10	18					0.000442599	0.00044341	1	1	0
UBR1	197131	broad.mit.edu	37	15	43351289	43351289	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:43351289A>G	ENST00000290650.4	-	9	1165	c.1087T>C	c.(1087-1089)Tat>Cat	p.Y363H	UBR1_ENST00000382177.2_Missense_Mutation_p.Y363H	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	363					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTACCTTTATAAAGCTTTGCA	0.378000													20	21					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189874904	189874904	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:189874904G>A	ENST00000304636.3	+	49	3994	c.3823_splice	c.e49-1	p.G1275_splice	COL3A1_ENST00000317840.5_Splice_Site_p.G972_splice	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1275	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GACTATTCAGGAGAATACTGG	0.358000													11	25					0	0	1	0	0
ABCC9	10060	broad.mit.edu	37	12	22001165	22001165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:22001165G>A	ENST00000261200.4	-	23	2784	c.2785C>T	c.(2785-2787)Caa>Taa	p.Q929*	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.Q929*|ABCC9_ENST00000345162.2_Nonsense_Mutation_p.Q893*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	929					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAGTAGTTTGGTCAGCTTCC	0.418000													24	31					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65392422	65392422	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:65392422C>T	ENST00000519389.1	+	3	734	c.555C>T	c.(553-555)ttC>ttT	p.F185F	HEPH_ENST00000419594.1_Silent_p.F134F|HEPH_ENST00000343002.2_Silent_p.F131F|HEPH_ENST00000374727.3_Silent_p.F134F|HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000441993.2_Silent_p.F134F			Q9BQS7	HEPH_HUMAN	hephaestin	131	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATGGTGTCTTCTACGAGAAGG	0.483000													20	32					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22939861	22939861	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:22939861G>A	ENST00000397104.3	-	6	2469	c.2470C>T	c.(2470-2472)Cat>Tat	p.H824Y						zinc finger protein 99									p.H824N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TCCCTAGTATGAATTAGCTTA	0.378000													16	70					0	0	1	0	0
RASA2	5922	broad.mit.edu	37	3	141304936	141304936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:141304936G>A	ENST00000286364.3	+	18	1857	c.1822G>A	c.(1822-1824)Gaa>Aaa	p.E608K	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.E608K			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	608	PH.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						GCACCTGAAAGAAGGGTAATT	0.383000													9	15					0	0	1	0	0
FANCI	55215	broad.mit.edu	37	15	89816644	89816644	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:89816644C>T	ENST00000310775.7	+	11	1005	c.919C>T	c.(919-921)Ccc>Tcc	p.P307S	FANCI_ENST00000300027.8_Missense_Mutation_p.P307S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	307					cell cycle|DNA repair	nucleoplasm	protein binding	p.P307S(1)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					TAACTTAAGTCCCTTCAGCAT	0.318000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				47	85					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159653489	159653489	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:159653489G>A	ENST00000297267.9	+	11	2145	c.1945G>A	c.(1945-1947)Gaa>Aaa	p.E649K	FNDC1_ENST00000340366.6_Missense_Mutation_p.E586K	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	649						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GGACTCAGACGAAGATGAGCG	0.687000													9	17					0	0	1	0	0
EGF	1950	broad.mit.edu	37	4	110880475	110880475	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:110880475A>G	ENST00000265171.5	+	6	1393	c.948A>G	c.(946-948)aaA>aaG	p.K316K	EGF_ENST00000509793.1_Intron|EGF_ENST00000503392.1_Silent_p.K316K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	316	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TAGAGCAGAAACTTTGCAAAT	0.473000													27	15					0	0	1	0	0
LEFTY2	7044	broad.mit.edu	37	1	226127470	226127470	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:226127470G>A	ENST00000366820.5	-	2	831	c.483C>T	c.(481-483)tcC>tcT	p.S161S	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Silent_p.S127S	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	161					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					AGTCGATGAGGGAGGTGCGGT	0.776000													14	3					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810885	123810885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123810885G>A	ENST00000307033.2	+	1	636	c.562G>A	c.(562-564)Gcc>Acc	p.A188T		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GATCAAATTGGCCTGCACAGA	0.468000													44	48					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118365049	118365049	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:118365049G>A	ENST00000528052.1	+	12	1395	c.1324G>A	c.(1324-1326)Gga>Aga	p.G442R	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.G442R|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.G442R			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	442	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGTGCAAAAGGGAGAAGAGAA	0.408000													7	31					0	0	1	0	0
TADA2A	6871	broad.mit.edu	37	17	35797851	35797851	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:35797851C>T	ENST00000394395.2	+	5	378	c.205C>T	c.(205-207)Cct>Tct	p.P69S	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000225396.6_Missense_Mutation_p.P69S|TADA2A_ENST00000417170.1_Missense_Mutation_p.P69S|TADA2A_ENST00000586023.1_Missense_Mutation_p.P69S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	69					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						TTCAGATTTTCCTGTCCTTGA	0.463000													17	120					0	0	1	0	0
KRT32	3882	broad.mit.edu	37	17	39616371	39616371	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:39616371G>A	ENST00000225899.3	-	7	1441	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G		NM_002278.3	NP_002269.3	Q14532	K1H2_HUMAN	keratin 32	446	Tail.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				TTCAGTAGCGGCCCTGGGGGC	0.667000													18	23					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	875404	875404	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:875404G>A	ENST00000316157.3	-	10	1086	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	349							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CTGCTGCTGGGGGCTGTACAT	0.542000													30	38					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140277670	140277670	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:140277670C>T	ENST00000458420.3	+	12	2202	c.2012C>T	c.(2011-2013)aCc>aTc	p.T671I		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	671					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCGCCAAAACCGAAGCCCCC	0.522000										HNSCC(16;0.037)			7	33					0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160798372	160798372	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:160798372G>A	ENST00000283243.7	-	30	4515	c.4309C>T	c.(4309-4311)Cct>Tct	p.P1437S	PLA2R1_ENST00000460710.1_5'UTR	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1437					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGATAGTAAGGATTCCGAAAC	0.388000													14	9					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168099963	168099963	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:168099963G>A	ENST00000409195.1	+	9	2150	c.2061G>A	c.(2059-2061)ggG>ggA	p.G687G	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.G465G|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.G687G|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	512					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAACTGGGGGGGATGTCAAGA	0.418000													16	22					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121680940	121680940	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:121680940G>A	ENST00000393386.2	+	21	6119	c.5708G>A	c.(5707-5709)gGa>gAa	p.G1903E	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.G1036E	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1903	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCTGACATGGGAGTACCAGAG	0.547000													19	33					0	0	1	0	0
MLKL	197259	broad.mit.edu	37	16	74729448	74729448	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:74729448C>T	ENST00000308807.7	-	2	671	c.208G>A	c.(208-210)Gag>Aag	p.E70K	MLKL_ENST00000306247.7_Missense_Mutation_p.E70K	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	70							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTAGCCTCCTCCAGGGCAGCC	0.507000													18	15					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181687256	181687256	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181687256G>A	ENST00000526775.1	+	12	1756	c.1591G>A	c.(1591-1593)Ggg>Agg	p.G531R	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G138R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G531R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G531R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G482R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G531R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G482R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	531					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTATGGCATGGGGCCTCGCCT	0.463000													16	32					0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16822595	16822595	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:16822595G>A	ENST00000355661.3	-	17	2345	c.2335C>T	c.(2335-2337)Ctg>Ttg	p.L779L	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.L779L|PLEKHA7_ENST00000531066.1_Silent_p.L779L			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	779					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCCAACTTCAGGTATTCGTTC	0.498000													45	145					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738946	138738946	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:138738946G>A	ENST00000329447.5	-	1	822	c.558C>T	c.(556-558)ttC>ttT	p.F186F	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	186										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGTAGGGGATGAACATACTTC	0.637000													12	65					0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56972063	56972063	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56972063G>A	ENST00000591790.1	-	3	1583	c.155C>T	c.(154-156)tCg>tTg	p.S52L	ZNF667_ENST00000504904.3_Missense_Mutation_p.S52L|ZNF667_ENST00000342634.3_Missense_Mutation_p.S145L|ZNF667_ENST00000292069.6_Missense_Mutation_p.S52L			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S52L(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CTTACCAAGCGAGACCAGGTT	0.502000													23	81					0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109629451	109629451	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:109629451C>T	ENST00000338432.7	+	14	2297	c.2178C>T	c.(2176-2178)atC>atT	p.I726I	ACACB_ENST00000377854.5_Silent_p.I726I|ACACB_ENST00000377848.3_Silent_p.I726I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	726	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACTGTCCATCCGAGGCGACT	0.488000													18	105					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11076123	11076123	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:11076123C>T	ENST00000403050.3	+	9	2133	c.1681C>T	c.(1681-1683)Cca>Tca	p.P561S	PHF14_ENST00000445996.2_Missense_Mutation_p.P276S	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	561							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GGCCTGGGTTCCAAGGGAAAA	0.473000													19	52					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8175897	8175897	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:8175897G>A	ENST00000520004.1	-	6	4252	c.3988C>T	c.(3988-3990)Cgc>Tgc	p.R1330C	SGK223_ENST00000330777.4_Missense_Mutation_p.R1330C			Q86YV5	SG223_HUMAN		1330							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACCAGCTCGCGCCGAGGCCCC	0.662000													31	65					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140229536	140229536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140229536G>T	ENST00000378122.3	+	1	2180	c.1456G>T	c.(1456-1458)Gag>Tag	p.E486*	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Nonsense_Mutation_p.E486*|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCGCAGGAGAACGCCCT	0.662000													26	1					3.73988e-18	3.78138e-18	1	1	0
MYOM2	9172	broad.mit.edu	37	8	2054040	2054040	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:2054040G>A	ENST00000262113.4	+	22	2884	c.2743G>A	c.(2743-2745)Gaa>Aaa	p.E915K	MYOM2_ENST00000523438.1_Missense_Mutation_p.E340K	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	915	Ig-like C2-type 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		AGGCACCAAGGAAATCAGTGC	0.502000													20	60					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123298175	123298175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123298175C>T	ENST00000358487.5	-	6	951	c.679G>A	c.(679-681)Gga>Aga	p.G227R	FGFR2_ENST00000359354.2_Missense_Mutation_p.G227R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G227R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G227R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G227R|FGFR2_ENST00000369060.4_Missense_Mutation_p.G227R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G227R|FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000369059.1_Missense_Mutation_p.G112R|FGFR2_ENST00000360144.3_Missense_Mutation_p.G138R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G138R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G227R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G112R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	227	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GTATAATTTCCCTTGTCAGAT	0.483000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				14	40					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97045493	97045493	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:97045493G>A	ENST00000524981.3	+	3	353	c.353G>A	c.(352-354)aGc>aAc	p.S118N				Q6ZTY8	CL063_HUMAN		92										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TTTCCTATTAGCCAAGATGGT	0.373000													16	12					0	0	1	0	0
NUP50	10762	broad.mit.edu	37	22	45574414	45574414	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:45574414T>C	ENST00000347635.3	+	5	1102	c.636T>C	c.(634-636)tcT>tcC	p.S212S	NUP50_ENST00000407019.2_Silent_p.S184S|NUP50_ENST00000396096.2_Silent_p.S184S|NUP50_ENST00000425733.2_5'UTR	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	212	5 X 2 AA repeats of F-G.				carbohydrate metabolic process|glucose transport|intracellular transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore|nucleoplasm	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAAGTGAATCTAACAAAGTGG	0.393000													10	34					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	124413284	124413284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:124413284G>A	ENST00000360013.3	+	53	7638	c.7511G>A	c.(7510-7512)tGg>tAg	p.W2504*	KALRN_ENST00000291478.4_Nonsense_Mutation_p.W807*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.W775*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2503	Ig-like C2-type.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ACCATCACTTGGAAGGGTCCA	0.537000													21	84					0	0	1	0	0
BCAS4	55653	broad.mit.edu	37	20	49458422	49458422	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:49458422C>T	ENST00000358791.5	+	4	574	c.474C>T	c.(472-474)ctC>ctT	p.L158L	BCAS4_ENST00000262591.5_Intron|BCAS4_ENST00000371608.2_Silent_p.L158L	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	158						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						CCGCAGGGCTCCCCTCCTTCA	0.672000													5	56					0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5461818	5461818	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:5461818G>A	ENST00000380211.1	-	1	926	c.927C>T	c.(925-927)ttC>ttT	p.F309F	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGATTTATGGAAGAACTTGA	0.453000													22	52					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87170679	87170679	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:87170679G>A	ENST00000265724.3	-	19	2730	c.2313C>T	c.(2311-2313)ttC>ttT	p.F771F	ABCB1_ENST00000543898.1_Silent_p.F707F	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	771	ABC transmembrane type-1 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	TTACCTGAAGGAAAAATGTAA	0.299000													31	25					0	0	1	0	0
NR2E1	7101	broad.mit.edu	37	6	108497823	108497823	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:108497823C>T	ENST00000368986.4	+	4	1084	c.376C>T	c.(376-378)Cct>Tct	p.P126S	NR2E1_ENST00000368983.3_Missense_Mutation_p.P163S|NR2E1_ENST00000484978.1_3'UTR	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	126					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		GGCGGCGCTCCCTGCGCCGGC	0.706000													3	14					0	0	1	0	0
CIB3	117286	broad.mit.edu	37	19	16275693	16275693	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16275693C>T	ENST00000269878.4	-	5	427	c.378G>A	c.(376-378)tgG>tgA	p.W126*	CIB3_ENST00000379859.3_Nonsense_Mutation_p.W77*|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	126	EF-hand 2.						calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						GCTCCAGGTCCCACGCACAAA	0.597000													15	64					0	0	1	0	0
MAPKAPK3	7867	broad.mit.edu	37	3	50683618	50683618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:50683618C>T	ENST00000446044.1	+	10	1348	c.752C>T	c.(751-753)tCc>tTc	p.S251F	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.S251F	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	251	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CAGGCCATCTCCCCGGGGATG	0.597000													49	133					0	0	1	0	0
ZSWIM1	90204	broad.mit.edu	37	20	44511961	44511961	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:44511961C>T	ENST00000372523.1	+	2	825	c.730C>T	c.(730-732)Cgc>Tgc	p.R244C	ZSWIM1_ENST00000372520.1_Missense_Mutation_p.R244C	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	244							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				GCTGGCTCACCGCTGGAGAAG	0.572000													16	39					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123811241	123811241	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:123811241G>A	ENST00000307033.2	+	1	992	c.918G>A	c.(916-918)aaG>aaA	p.K306K		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGAGGAAAAAGGACCCTATTG	0.493000													13	33					0	0	1	0	0
ZNF574	64763	broad.mit.edu	37	19	42585084	42585084	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:42585084C>T	ENST00000600245.1	+	2	2981	c.2326C>T	c.(2326-2328)Cgt>Tgt	p.R776C	ZNF574_ENST00000359044.4_Missense_Mutation_p.R776C|ZNF574_ENST00000222339.7_Missense_Mutation_p.R866C			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAAAGCGTTCCGTCAGAGTAC	0.602000													34	134					0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77457119	77457119	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:77457119A>T	ENST00000451710.3	-	4	530	c.293T>A	c.(292-294)aTt>aAt	p.I98N	TRPM6_ENST00000449912.2_Missense_Mutation_p.I93N|TRPM6_ENST00000376872.3_Missense_Mutation_p.I98N|TRPM6_ENST00000360774.1_Missense_Mutation_p.I98N|TRPM6_ENST00000361255.3_Missense_Mutation_p.I93N|TRPM6_ENST00000376871.3_Missense_Mutation_p.I98N|TRPM6_ENST00000376864.4_Missense_Mutation_p.I98N|TRPM6_ENST00000359047.2_Missense_Mutation_p.I98N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	98					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGGAAATTAATCGTGCCAAA	0.408000													46	9					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100793623	100793623	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:100793623C>T	ENST00000361529.3	+	4	321	c.243C>T	c.(241-243)atC>atT	p.I81I	SLC25A47_ENST00000557052.1_5'UTR	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	81					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						TGGCGCACATCTGCCGGCTCC	0.677000													42	44					0	0	1	0	0
ANPEP	290	broad.mit.edu	37	15	90348321	90348321	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:90348321G>A	ENST00000300060.6	-	4	1198	c.885C>T	c.(883-885)tcC>tcT	p.S295S		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	295	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGACACCATTGGATGCCTGCT	0.562000													42	97					0	0	1	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227472	56227472	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:56227472G>A	ENST00000341744.3	-	4	820	c.501C>T	c.(499-501)ctC>ctT	p.L167L	PMEPA1_ENST00000265626.4_Silent_p.L117L|PMEPA1_ENST00000395814.1_Silent_p.L117L|PMEPA1_ENST00000395816.3_Silent_p.L117L|PMEPA1_ENST00000347215.4_Silent_p.L132L	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	167					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	p.L167L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CCCGAAGCTGGAGGGTGCAGG	0.642000													16	99					0	0	1	0	0
OR4C13	283092	broad.mit.edu	37	11	49974230	49974230	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:49974230G>A	ENST00000555099.1	+	1	288	c.256G>A	c.(256-258)Gaa>Aaa	p.E86K		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTCACTCTATGAAAACAAGAC	0.403000													46	128					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27539630	27539630	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:27539630C>T	ENST00000574842.1	+	0	899																											TGGTAGGCTCCGAAGTTATGG	0.488000													151	138					0	0	1	0	0
AMPD3	272	broad.mit.edu	37	11	10503755	10503755	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:10503755C>T	ENST00000444303.2	+	3	567	c.95C>T	c.(94-96)cCg>cTg	p.P32L	AMPD3_ENST00000396554.3_Missense_Mutation_p.P200L	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	191					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACTGCACCTCCGGAAGAGGGC	0.607000													35	40					0	0	1	0	0
FOLR4	390243	broad.mit.edu	37	11	94040632	94040632	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:94040632C>T	ENST00000440961.2	+	4	550	c.506C>T	c.(505-507)tCc>tTc	p.S169F		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	176						extracellular region	folic acid binding|receptor activity	p.S170C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						CTCCCTTTCTCCCATTACTTC	0.587000													18	16					0	0	1	0	0
MUC7	4589	broad.mit.edu	37	4	71346721	71346721	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71346721C>T	ENST00000413702.1	+	4	548	c.260C>T	c.(259-261)cCt>cTt	p.P87L	MUC7_ENST00000304887.5_Missense_Mutation_p.P87L|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Missense_Mutation_p.P87L	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	87						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCCCAAATCCTCACCAGCCA	0.463000													54	34					0	0	1	0	0
RASIP1	54922	broad.mit.edu	37	19	49230406	49230406	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:49230406C>T	ENST00000222145.4	-	7	2085	c.1881G>A	c.(1879-1881)gaG>gaA	p.E627E		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	627	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGGGGACCCCCTCAGGGTGGC	0.547000													25	23					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110827619	110827619	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:110827619C>T	ENST00000375820.4	-	37	3265	c.3144G>A	c.(3142-3144)gaG>gaA	p.E1048E		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1048	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGCCCTTTCTCTCCTTTTG	0.567000													15	43					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35425696	35425696	+	Silent	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:35425696T>C	ENST00000229769.2	+	4	1089	c.904T>C	c.(904-906)Tta>Cta	p.L302L		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	302	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						TCCCCAGGGGTTAGAGGGATT	0.562000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				18	100					0	0	1	0	0
CLEC3A	10143	broad.mit.edu	37	16	78064408	78064408	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:78064408C>T	ENST00000299642.4	+	3	376	c.291C>T	c.(289-291)ttC>ttT	p.F97F	CLEC3A_ENST00000575655.1_Silent_p.F88F|CLEC3A_ENST00000565808.1_3'UTR|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	88	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TGAAGCATTTCCATGAGGCCA	0.448000													33	7					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50338452	50338452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:50338452G>A	ENST00000394697.2	+	11	1890	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q	ADCY7_ENST00000538642.1_Missense_Mutation_p.R517Q|ADCY7_ENST00000254235.3_Missense_Mutation_p.R517Q|ADCY7_ENST00000537579.1_Intron|ADCY7_ENST00000566433.2_Missense_Mutation_p.R517Q			P51828	ADCY7_HUMAN	adenylate cyclase 7	517					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCCAACGGGCGGAGGCCTAAG	0.647000													21	6					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56416366	56416366	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:56416366C>T	ENST00000588751.1	-	8	2584	c.2560G>A	c.(2560-2562)Ggc>Agc	p.G854S	NLRP13_ENST00000342929.3_Missense_Mutation_p.G854S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	854							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCTTTATGCCATCATCTTGG	0.493000													10	52					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515287	51515287	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:51515287G>A	ENST00000328188.1	+	1	6	c.6G>A	c.(4-6)gaG>gaA	p.E2E		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						AATACATGGAGAATAGGAATA	0.274000													11	47					0	0	1	0	0
PARD3B	117583	broad.mit.edu	37	2	206305094	206305094	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:206305094G>A	ENST00000406610.2	+	20	2949	c.2741_splice	c.e20-1	p.R914_splice	PARD3B_ENST00000349953.3_Intron|PARD3B_ENST00000358768.2_Splice_Site_p.R852_splice|PARD3B_ENST00000351153.1_Splice_Site_p.R845_splice	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	914					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TATTTTTCAGGATTGGAGCAA	0.363000													5	34					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7730138	7730138	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:7730138C>T	ENST00000507866.2	+	22	3040	c.2931C>T	c.(2929-2931)acC>acT	p.T977T	SORCS2_ENST00000329016.9_Silent_p.T805T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	977						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACCCCAACACCCCTGAGTGGA	0.592000													8	9					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24508743	24508743	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:24508743G>A	ENST00000376454.3	+	2	289	c.259G>A	c.(259-261)Gat>Aat	p.D87N	KIAA1217_ENST00000458595.1_Missense_Mutation_p.D87N|KIAA1217_ENST00000376452.3_Missense_Mutation_p.D87N|KIAA1217_ENST00000376462.1_Missense_Mutation_p.D7N	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	87					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATCTGAGATGGATCGGAAGAG	0.527000													48	57					0	0	1	0	0
HADHA	3030	broad.mit.edu	37	2	26461815	26461815	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:26461815G>A	ENST00000380649.3	-	3	296	c.167C>T	c.(166-168)tCt>tTt	p.S56F	HADHA_ENST00000457468.2_Missense_Mutation_p.L14F	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	56					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TGAATTGGGAGAGTTAATTCG	0.343000													15	108					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158669536	158669536	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:158669536T>A	ENST00000359610.2	-	1	950	c.907A>T	c.(907-909)Aaa>Taa	p.K303*		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGTGCTTTTTTATAGCTTCT	0.383000													5	51					0	0	1	0	0
ERCC6L2	375748	broad.mit.edu	37	9	98774985	98774985	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:98774985C>T	ENST00000407474.3	+	4	1609	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L				Q5T890	RAD26_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2	0					DNA repair	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding										ATCCCGTTCTCTGAACAGTGA	0.428000													11	12					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113212622	113212622	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:113212622G>A	ENST00000261965.3	-	5	622	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	TUBGCP3_ENST00000375669.3_Missense_Mutation_p.R146W	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	146					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					TGGGCACTCCGATCTTGGTAG	0.602000													36	72					0	0	1	0	0
DDX60L	91351	broad.mit.edu	37	4	169321985	169321985	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:169321985C>T	ENST00000511577.1	-	26	3730	c.3483G>A	c.(3481-3483)caG>caA	p.Q1161Q	DDX60L_ENST00000505890.1_Silent_p.Q1161Q|DDX60L_ENST00000260184.7_Silent_p.Q1161Q			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1161							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACATCCTTTTCTGTGTCTTCC	0.363000													5	36					0	0	1	0	0
EPHA8	2046	broad.mit.edu	37	1	22920043	22920043	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:22920043C>T	ENST00000166244.3	+	7	1539	c.1467C>T	c.(1465-1467)acC>acT	p.T489T		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	489	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.T489T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCTACTCCACCCTCAAGGCCG	0.697000													3	11					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181683	3181683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:3181683C>T	ENST00000408891.2	-	1	585	c.547G>A	c.(547-549)Gtc>Atc	p.V183I		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	183					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						AAGTGATTGACCTCATTGGGG	0.562000													18	104					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932551	44932551	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44932551C>T	ENST00000291187.4	-	6	2709	c.2387G>A	c.(2386-2388)gGg>gAg	p.G796E	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.G802E|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GAAGCCTTTCCCACACACACC	0.493000													16	48					0	0	1	0	0
DDX5	1655	broad.mit.edu	37	17	62499146	62499146	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:62499146A>C	ENST00000225792.5	-	8	1282	c.881T>G	c.(880-882)cTg>cGg	p.L294R	DDX5_ENST00000578804.1_Missense_Mutation_p.L294R|DDX5_ENST00000450599.2_Missense_Mutation_p.L215R	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	294	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			ATAGTCTTTCAGGAAATCTTC	0.393000			T	ETV4	prostate								49	75					0	0	1	0	0
SLC30A9	10463	broad.mit.edu	37	4	42041011	42041011	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:42041011C>T	ENST00000264451.6	+	8	858	c.678C>T	c.(676-678)tcC>tcT	p.S226S		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	226					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCCACGCTCCAGAACAGCAT	0.363000													9	23					0	0	1	0	0
PCDHGA12	26025	broad.mit.edu	37	5	140812012	140812012	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140812012C>T	ENST00000252085.3	+	1	1828	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1												p.I562I(2)		breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCGAGATCCTGTACCCCG	0.662000													99	44					0	0	1	0	0
SPTBN2	6712	broad.mit.edu	37	11	66475056	66475056	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:66475056G>A	ENST00000533211.1	-	13	1915	c.1584C>T	c.(1582-1584)ctC>ctT	p.L528L	SPTBN2_ENST00000309996.2_Silent_p.L528L|SPTBN2_ENST00000529997.1_Silent_p.L528L			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	528					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCAGGTTGAGGAGGAGCCGCT	0.627000													4	17					0	0	1	0	0
NXF3	56000	broad.mit.edu	37	X	102339393	102339393	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:102339393C>T	ENST00000395065.3	-	3	329	c.228G>A	c.(226-228)cgG>cgA	p.R76R	NXF3_ENST00000425463.2_5'UTR|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	76						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						AACTGCCTTTCCGATTATAGG	0.438000													24	31					0	0	1	0	0
PCDHA8	56140	broad.mit.edu	37	5	140220978	140220978	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:140220978G>A	ENST00000531613.1	+	1	72	c.72G>A	c.(70-72)tgG>tgA	p.W24*	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Nonsense_Mutation_p.W24*|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCAGCCTGGAAGGTGGGGA	0.597000													13	65					0	0	1	0	0
RAET1K	646024	broad.mit.edu	37	6	150321202	150321202	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:150321202C>T	ENST00000533735.1	-	0	1016					NR_024045.1																						CCCACATTACCTGTCACTCTA	0.567000													3	4					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212947	10212947	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10212947C>T	ENST00000418404.3	-	33	5020	c.4857G>A	c.(4855-4857)aaG>aaA	p.K1619K	MYH13_ENST00000570743.1_Silent_p.K1619K|MYH13_ENST00000252172.4_Silent_p.K1619K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1619					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCATCTTCTTCTTTAGCCTCA	0.582000													4	13					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209796985	209796985	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:209796985C>T	ENST00000391911.1	-	15	2612	c.2223G>A	c.(2221-2223)caG>caA	p.Q741Q	LAMB3_ENST00000356082.4_Silent_p.Q741Q|LAMB3_ENST00000367030.3_Silent_p.Q741Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	741	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGTCCCTGAGCTGGTCCAAAA	0.662000													17	37					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154091172	154091172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:154091172C>T	ENST00000368559.3	-	11	1510	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	NUP210L_ENST00000271854.3_Missense_Mutation_p.G480E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	480						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATATAACATTCCCATAGGATG	0.338000													32	151					0	0	1	0	0
S1PR2	9294	broad.mit.edu	37	19	10334520	10334520	+	Nonstop_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10334520T>C	ENST00000590320.1	-	2	1172	c.1062A>G	c.(1060-1062)tgA>tgG	p.*354W		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	0					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						ACCCCCACCCTCAGACCACCG	0.652000													14	19					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56469755	56469755	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:56469755T>A	ENST00000370754.5	-	39	9571	c.9572A>T	c.(9571-9573)aAt>aTt	p.N3191I	DST_ENST00000446842.2_Missense_Mutation_p.N2687I|DST_ENST00000370769.4_Missense_Mutation_p.N3013I|DST_ENST00000361203.3_Missense_Mutation_p.N3013I|DST_ENST00000421834.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.N3013I|DST_ENST00000244364.6_Intron|DST_ENST00000370788.2_Intron			Q03001	DYST_HUMAN	dystonin	3013					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTTTTGTATTATTAACTCC	0.368000													12	30					0	0	1	0	0
TRBV6-7	28600	broad.mit.edu	37	7	142143909	142143909	+	RNA	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:142143909G>A	ENST00000390373.2	-	0	86																											TCAGGACGTGGAATTTTGGGG	0.522000													11	52					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43522979	43522979	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43522979C>T	ENST00000401740.1	-	3	755	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	PSG11_ENST00000320078.7_Missense_Mutation_p.E218K|PSG11_ENST00000403486.1_Missense_Mutation_p.E96K|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000306322.7_Missense_Mutation_p.E96K			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	218	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTCCATATTTCACATTCATAG	0.507000													169	197					0	0	1	0	0
MATN3	4148	broad.mit.edu	37	2	20194152	20194152	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:20194152C>T	ENST00000407540.3	-	7	1375	c.1313G>A	c.(1312-1314)aGa>aAa	p.R438K	AC079145.4_ENST00000416575.1_RNA|MATN3_ENST00000421259.2_Missense_Mutation_p.R396K	NM_002381.4	NP_002372.1	O15232	MATN3_HUMAN	matrilin 3	438					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAAACAAGTCTTCGTGCTTC	0.403000													4	20					0	0	1	0	0
TACC2	10579	broad.mit.edu	37	10	123974921	123974921	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:123974921G>A	ENST00000369005.1	+	10	7639	c.7299G>A	c.(7297-7299)gtG>gtA	p.V2433V	TACC2_ENST00000513429.1_Silent_p.V579V|TACC2_ENST00000369001.1_Silent_p.V137V|TACC2_ENST00000369000.1_Silent_p.V133V|TACC2_ENST00000260733.3_Silent_p.V511V|TACC2_ENST00000453444.2_Silent_p.V2437V|TACC2_ENST00000368999.1_Silent_p.V523V|TACC2_ENST00000358010.1_Silent_p.V579V|TACC2_ENST00000334433.3_Silent_p.V2433V|TACC2_ENST00000515603.1_Silent_p.V2388V|TACC2_ENST00000369004.3_Silent_p.V523V|TACC2_ENST00000515273.1_Silent_p.V2437V|TACC2_ENST00000360561.3_Silent_p.V511V	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2433						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATTTAGGGTGAAAAAGTCGC	0.502000													53	27					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39672093	39672093	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr21:39672093G>A	ENST00000398930.1	+	4	1264	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	KCNJ15_ENST00000398932.1_Missense_Mutation_p.E304K|KCNJ15_ENST00000398938.2_Missense_Mutation_p.E304K|KCNJ15_ENST00000328656.3_Missense_Mutation_p.E304K|KCNJ15_ENST00000398934.1_Missense_Mutation_p.E304K			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	304					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TATCCCAGAGGAAATCTACTG	0.463000													22	34					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184103932	184103932	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:184103932G>A	ENST00000204604.1	+	15	2163	c.1917G>A	c.(1915-1917)ggG>ggA	p.G639G	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000545352.1_Silent_p.G269G|CHRD_ENST00000348986.3_Silent_p.G599G|CHRD_ENST00000450923.1_Silent_p.G639G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	639	CHRD 4.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCCAGAGGGGAGCTCCGAG	0.642000													16	41					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44222583	44222583	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:44222583C>T	ENST00000393812.3	-	4	1302	c.1159G>A	c.(1159-1161)Ggc>Agc	p.G387S	SLC35B2_ENST00000393810.1_3'UTR|SLC35B2_ENST00000495706.1_5'UTR|SLC35B2_ENST00000537814.1_Missense_Mutation_p.G254S|SLC35B2_ENST00000538577.1_Missense_Mutation_p.G294S	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	387					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGTGTGGCCATAGAGAAGG	0.582000													8	69					0	0	1	0	0
ZNF705B	100132396	broad.mit.edu	37	8	7808223	7808223	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:7808223C>T	ENST00000443676.1	+	5	388	c.272C>T	c.(271-273)tCc>tTc	p.S91F	ZNF705B_ENST00000400120.3_Missense_Mutation_p.S91F			P0CI00	Z705L_HUMAN	zinc finger protein 705B	91					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(2)|lung(2)	4						CACATGATATCCATGCATCCT	0.333000													30	27					0	0	1	0	0
ZNF391	346157	broad.mit.edu	37	6	27368071	27368071	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:27368071G>A	ENST00000244576.4	+	3	467		c.e3-1			NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						ATGTCTTTCAGATAGGGGGAT	0.383000													19	32					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49928020	49928020	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:49928020C>T	ENST00000296474.3	-	18	3735	c.3708G>A	c.(3706-3708)agG>agA	p.R1236R	MST1R_ENST00000344206.4_Silent_p.R1187R	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1236	Protein kinase.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TATAGTACTCCCTGTCCAGGA	0.547000													8	26					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179441054	179441054	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179441054C>T	ENST00000589042.1	-	326	70029	c.69805G>A	c.(69805-69807)Gga>Aga	p.G23269R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20701R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14204R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14329R|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14396R|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21628R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21628	Fibronectin type-III 69.						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)			ATTTCAAGTCCACCATCATAA	0.473000													6	27					0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24487846	24487846	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:24487846G>A	ENST00000264463.4	-	12	2800	c.2293C>T	c.(2293-2295)Ctc>Ttc	p.L765F	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	765					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CATTCTCGGAGGTAATCGTAG	0.418000										HNSCC(23;0.051)			32	109					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577848	9577848	+	Missense_Mutation	SNP	C	C	T	rs149138221		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9577848C>T	ENST00000301480.4	-	10	1988	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R592Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACTGTGTCTTCGTAAATGTTT	0.408000													18	72					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2878184	2878184	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:2878184C>T	ENST00000586426.1	+	4	1312	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	ZNF556_ENST00000307635.2_Missense_Mutation_p.L410F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCAGGCGGGCTTTGCTCTTC	0.453000													24	72					0	0	1	0	0
C8orf74	203076	broad.mit.edu	37	8	10555179	10555179	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:10555179C>T	ENST00000304519.5	+	3	341	c.312C>T	c.(310-312)acC>acT	p.T104T	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121.1	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	104										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ATTTCAACACCACCCACCTGC	0.567000													66	107					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48701285	48701285	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:48701285G>A	ENST00000352832.5	+	32	6069	c.5697G>A	c.(5695-5697)acG>acA	p.T1899T	CACNA1G_ENST00000503485.1_Silent_p.T1899T|CACNA1G_ENST00000507510.2_Silent_p.T1981T|CACNA1G_ENST00000515765.1_Silent_p.T1970T|CACNA1G_ENST00000515411.1_Silent_p.T1963T|CACNA1G_ENST00000507609.1_Silent_p.T1926T|CACNA1G_ENST00000505165.1_Silent_p.T1933T|CACNA1G_ENST00000514717.1_Silent_p.T1876T|CACNA1G_ENST00000514181.1_Silent_p.T1908T|CACNA1G_ENST00000514079.1_Silent_p.T1940T|CACNA1G_ENST00000502264.1_Silent_p.T1955T|CACNA1G_ENST00000513964.1_Silent_p.T1888T|CACNA1G_ENST00000513689.2_Silent_p.T1936T|CACNA1G_ENST00000360761.4_Silent_p.T1910T|CACNA1G_ENST00000510366.1_Silent_p.T1881T|CACNA1G_ENST00000512389.1_Silent_p.T1922T|CACNA1G_ENST00000359106.5_Silent_p.T2026T|CACNA1G_ENST00000507336.1_Silent_p.T2015T|CACNA1G_ENST00000429973.2_Silent_p.T1915T|CACNA1G_ENST00000510115.1_Silent_p.T1947T|CACNA1G_ENST00000358244.5_Silent_p.T1899T|CACNA1G_ENST00000442258.2_Silent_p.T1892T|CACNA1G_ENST00000507896.1_Silent_p.T1922T|CACNA1G_ENST00000515165.1_Silent_p.T1933T|CACNA1G_ENST00000354983.4_Silent_p.T1992T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2026					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCACCCCACGGAGCTGCCAG	0.592000													19	21					0	0	1	0	0
CARD6	84674	broad.mit.edu	37	5	40853364	40853364	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:40853364G>A	ENST00000254691.5	+	3	2129	c.1930G>A	c.(1930-1932)Gag>Aag	p.E644K	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	644					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGTGTCTGTGGAGGATATGGC	0.522000													56	223					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48382100	48382100	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:48382100C>T	ENST00000224600.4	-	4	3662	c.3549G>A	c.(3547-3549)gtG>gtA	p.V1183V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	1183	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGTGTCATCCACGTGGTAGG	0.642000													16	48					0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506189	11506189	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11506189C>T	ENST00000500254.2	-	4	486	c.449G>A	c.(448-450)gGa>gAa	p.G150E	PRB1_ENST00000546254.1_Missense_Mutation_p.G150E|PRB1_ENST00000545626.1_Missense_Mutation_p.G130E	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1	344	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGGGGTGGTCCTTGTGGCTT	0.612000													41	176					0	0	1	0	0
OR2D2	120776	broad.mit.edu	37	11	6913368	6913368	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:6913368G>A	ENST00000299459.2	-	1	462	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GCAACATAGCGATCATAGGAC	0.483000													33	39					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756953	94756953	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94756953G>A	ENST00000554723.1	-	2	516	c.98C>T	c.(97-99)tCc>tTc	p.S33F	SERPINA10_ENST00000261994.4_5'UTR|SERPINA10_ENST00000554173.1_5'UTR|SERPINA10_ENST00000393096.1_5'UTR			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	0					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGAGGCCAAGGAGTGCCTCCC	0.547000													11	28					0	0	1	0	0
AGPAT9	84803	broad.mit.edu	37	4	84516094	84516094	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:84516094C>T	ENST00000395226.2	+	8	1053	c.835C>T	c.(835-837)Cga>Tga	p.R279*	AGPAT9_ENST00000264409.4_Nonsense_Mutation_p.R279*	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	279					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity	p.R279R(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				AATGAAGGATCGACACCTGGT	0.478000													80	64					0	0	1	0	0
ALPI	248	broad.mit.edu	37	2	233322373	233322373	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:233322373G>A	ENST00000295463.3	+	6	824	c.747G>A	c.(745-747)ggG>ggA	p.G249G		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	249					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCTGGACGGGAAGAACCTGG	0.627000													10	35					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21627698	21627698	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21627698G>A	ENST00000328843.6	+	10	1758	c.1727G>A	c.(1726-1728)gGa>gAa	p.G576E	DNAH11_ENST00000409508.3_Missense_Mutation_p.G576E			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	576	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCATATTTGGAAATTTTCTA	0.358000									Kartagener syndrome				31	29					0	0	1	0	0
CADM2	253559	broad.mit.edu	37	3	85932477	85932477	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:85932477C>T	ENST00000383699.3	+	4	902	c.275C>T	c.(274-276)tCc>tTc	p.S92F	CADM2_ENST00000407528.2_Missense_Mutation_p.S83F|CADM2_ENST00000405615.2_Missense_Mutation_p.S85F	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	83	Ig-like V-type.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GTTCGCGCTTCCTGGCATGAA	0.388000													11	20					0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111345392	111345392	+	Silent	SNP	G	G	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:111345392G>C	ENST00000441448.2	+	9	695	c.603G>C	c.(601-603)ctG>ctC	p.L201L		NM_032194.1	NP_115570.1	Q9H7B2	RPF2_HUMAN	ribosome production factor 2 homolog (S. cerevisiae)	201	Brix.					nucleolus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						AAAGGTTGCTGTTGAAGAAAT	0.413000													6	21					0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31133833	31133833	+	Silent	SNP	C	C	T	rs71746075		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:31133833C>T	ENST00000349752.5	-	15	2232	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K	GALNT14_ENST00000420311.2_Silent_p.K496K|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Silent_p.K511K|GALNT14_ENST00000356174.3_Silent_p.K498K|GALNT14_ENST00000324589.5_Silent_p.K536K	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	531	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CGACGATTTCCTTGCCGTTCT	0.552000													143	35					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	168947779	168947779	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:168947779C>T	ENST00000354536.5	+	6	745	c.525C>T	c.(523-525)atC>atT	p.I175I	SMOC2_ENST00000356284.2_Intron	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	170					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCTTGCAAATCTTTTCCGTTC	0.502000													26	44					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207796354	207796354	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:207796354G>A	ENST00000367049.4	+	45	7293	c.7293G>A	c.(7291-7293)acG>acA	p.T2431T	CR1_ENST00000367051.1_Silent_p.T1981T|CR1_ENST00000367052.1_Silent_p.T1981T|CR1_ENST00000400960.2_Silent_p.T1981T|CR1_ENST00000367053.1_Silent_p.T1981T	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1981					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TATCTGGTACGATCTTCTTTA	0.328000													8	5					0	0	1	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196696	132196696	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:132196696G>A	ENST00000260818.6	+	23	2757	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	837							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTACTATTGGAGGAAGATGA	0.343000													45	89					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151970854	151970854	+	Silent	SNP	G	G	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:151970854G>T	ENST00000355193.2	-	7	1166	c.948C>A	c.(946-948)acC>acA	p.T316T	KMT2C_ENST00000262189.6_Silent_p.T316T					lysine (K)-specific methyltransferase 2C																		AATCCTGAAAGGTGCCGGCTC	0.433000													7	185					0.000157383	0.00015773	1	1	0
DDX4	54514	broad.mit.edu	37	5	55110772	55110772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:55110772C>T	ENST00000505374.1	+	20	1851	c.1759C>T	c.(1759-1761)Cgc>Tgc	p.R587C	DDX4_ENST00000354991.5_Missense_Mutation_p.R553C|DDX4_ENST00000511853.1_Missense_Mutation_p.R438C|DDX4_ENST00000514278.2_Missense_Mutation_p.R567C|DDX4_ENST00000353507.5_Missense_Mutation_p.R553C	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	587	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TGGAGATTTTCGCTTTGGAAA	0.403000													39	27					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1652704	1652704	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:1652704G>A	ENST00000252804.4	-	17	2898	c.2848C>T	c.(2848-2850)Ccc>Tcc	p.P950S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	950					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTGGCGAAGGGGAGCAGCGGC	0.741000													30	8					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16257107	16257107	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:16257107C>T	ENST00000375759.3	+	11	4576	c.4372C>T	c.(4372-4374)Cgt>Tgt	p.R1458C		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1458					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCTTCATCTCGTGAAGAAAA	0.368000													31	4					0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28196706	28196706	+	Splice_Site	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:28196706C>T	ENST00000305242.5	-	17	2588	c.2495_splice	c.e17-1	p.M832_splice	ARMC4_ENST00000545014.1_Splice_Site_p.M357_splice|ARMC4_ENST00000537576.1_Splice_Site_p.M524_splice	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	832							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						GATCAATTATCCTATCGTGGA	0.398000													28	38					0	0	1	0	0
DKK2	27123	broad.mit.edu	37	4	107845189	107845189	+	Silent	SNP	C	C	T	rs61757610		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:107845189C>T	ENST00000285311.3	-	4	1407	c.702G>A	c.(700-702)gcG>gcA	p.A234A	DKK2_ENST00000510463.1_Silent_p.A188A|DKK2_ENST00000513208.1_Silent_p.A134A	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	234	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACAGGCCCTTCGCACAGTCGC	0.483000													21	121					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141773305	141773305	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:141773305T>A	ENST00000389484.3	-	13	3121	c.2150A>T	c.(2149-2151)gAt>gTt	p.D717V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	717					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)		TTCAATATGATCGTAATAGGC	0.388000										TSP Lung(27;0.18)			15	10					0	0	1	0	0
CABS1	85438	broad.mit.edu	37	4	71201725	71201725	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:71201725C>T	ENST00000273936.4	+	1	1028	c.969C>T	c.(967-969)ttC>ttT	p.F323F		NM_033122.3	NP_149113.3	Q96KC9	CABS1_HUMAN	calcium-binding protein, spermatid-specific 1	323						flagellum	calcium ion binding	p.F323F(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATATGACTTCGTTGTCCCTG	0.413000													13	57					0	0	1	0	0
SLC41A1	254428	broad.mit.edu	37	1	205768148	205768148	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:205768148G>A	ENST00000367137.3	-	5	1648	c.634C>T	c.(634-636)Ccg>Tcg	p.P212S	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	212						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AAGGCGTGCGGAATACTGAAG	0.607000													9	48					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14781588	14781588	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:14781588C>T	ENST00000261170.3	-	20	2377	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	747	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACCCAAATATCTTGGCAAGTG	0.333000													12	57					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82583296	82583296	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:82583296C>T	ENST00000423517.2	-	5	7310	c.6973G>A	c.(6973-6975)Gag>Aag	p.E2325K	PCLO_ENST00000333891.8_Missense_Mutation_p.E2325K	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2256	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCTCCAACTCCTTTTTATCT	0.418000													29	176					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1101122	1101122	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:1101122C>T	ENST00000441003.2	+	41	7548	c.7521C>T	c.(7519-7521)ctC>ctT	p.L2507L		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4869						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCACCTACCTCGCCACGGAGG	0.617000													15	67					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823975	47823975	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:47823975C>T	ENST00000355085.3	+	2	963	c.941C>T	c.(940-942)tCc>tTc	p.S314F		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	314					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CTGCGGAAATCCCTCCCCAGC	0.592000													25	79					0	0	1	0	0
RGS7	6000	broad.mit.edu	37	1	241262011	241262011	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:241262011G>A	ENST00000366565.1	-	3	511	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	44	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity	p.R44S(2)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTGACCGTACGAATAGGAATT	0.358000													9	75					0	0	1	0	0
KLF1	10661	broad.mit.edu	37	19	12996295	12996295	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:12996295C>T	ENST00000264834.4	-	2	789	c.749G>A	c.(748-750)gGg>gAg	p.G250E		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	250	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTGCAGTCCCCCCGAGTCC	0.706000													5	6					0	0	1	0	0
CYP4F11	57834	broad.mit.edu	37	19	16035587	16035587	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:16035587C>T	ENST00000326742.7	-	5	632	c.631G>A	c.(631-633)Gaa>Aaa	p.E211K	CYP4F11_ENST00000402119.3_Missense_Mutation_p.E211K|CYP4F11_ENST00000248041.7_Missense_Mutation_p.E211K			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11	211					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CAATTGCTTTCAAAGCTGAAG	0.547000													23	62					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184764395	184764395	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:184764395C>T	ENST00000367511.3	-	14	2696	c.2503G>A	c.(2503-2505)Gaa>Aaa	p.E835K	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	835	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCATCCCCTTCCTCGGTACAC	0.617000													38	99					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114288854	114288854	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:114288854C>T	ENST00000357077.4	+	42	11218	c.11165C>T	c.(11164-11166)tCc>tTc	p.S3722F	ANK2_ENST00000394537.3_Missense_Mutation_p.S1637F|ANK2_ENST00000509550.1_Missense_Mutation_p.S813F|ANK2_ENST00000510275.2_Missense_Mutation_p.S289F|ANK2_ENST00000264366.6_Missense_Mutation_p.S3689F|ANK2_ENST00000506722.1_Missense_Mutation_p.S1628F	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3689					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTGGTTATTCCACTTTTCAG	0.493000													49	46					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117996324	117996324	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:117996324G>A	ENST00000425217.1	-	8	1347	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	KSR2_ENST00000339824.5_Silent_p.I460I|KSR2_ENST00000302438.5_Silent_p.I157I|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	460					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTCGGTGGATGATCAGAAGAT	0.507000													11	51					0	0	1	0	0
TBX5	6910	broad.mit.edu	37	12	114793460	114793460	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:114793460G>A	ENST00000310346.4	-	9	2100	c.1434C>T	c.(1432-1434)tcC>tcT	p.S478S	TBX5_ENST00000405440.2_Silent_p.S478S|TBX5_ENST00000349716.5_Silent_p.S428S	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	478					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GGGTGCCAGGGGACTGCAGGC	0.622000													11	45					0	0	1	0	0
SERPINA1	5265	broad.mit.edu	37	14	94849304	94849304	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:94849304C>T	ENST00000448921.1	-	4	843	c.271G>A	c.(271-273)Ggg>Agg	p.G91R	SERPINA1_ENST00000393087.4_Missense_Mutation_p.G91R|SERPINA1_ENST00000404814.4_Missense_Mutation_p.G91R|SERPINA1_ENST00000449399.3_Missense_Mutation_p.G91R|SERPINA1_ENST00000402629.1_Missense_Mutation_p.G91R|SERPINA1_ENST00000440909.1_Missense_Mutation_p.G91R|SERPINA1_ENST00000437397.1_Missense_Mutation_p.G91R|SERPINA1_ENST00000355814.4_Missense_Mutation_p.G91R|SERPINA1_ENST00000393088.4_Missense_Mutation_p.G91R	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	91			G -> E (in M-Mineral springs; causes reduced AAT secretion; dbSNP:rs28931568).		acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GCCTTGGTCCCCAGGGAGAGC	0.552000													33	71					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461723	11461723	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11461723C>T	ENST00000279575.1	-	3	227	c.194G>A	c.(193-195)gGa>gAa	p.G65E	PRB4_ENST00000535904.1_Missense_Mutation_p.G65E|PRB4_ENST00000445719.2_Missense_Mutation_p.G65E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	65	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.622000										HNSCC(22;0.051)			13	402					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1057090	1057090	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:1057090G>A	ENST00000382251.3	+	5	1832	c.1503G>A	c.(1501-1503)aaG>aaA	p.K501K	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Silent_p.K501K|DMRT2_ENST00000302441.6_Silent_p.K501K			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	501					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGACCCCTAAGAAACACAGAG	0.383000													37	3					0	0	1	0	0
SCUBE1	80274	broad.mit.edu	37	22	43619153	43619153	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:43619153C>T	ENST00000360835.3	-	11	1403	c.1277G>A	c.(1276-1278)gGt>gAt	p.G426D		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	426					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCTCTCCACACCGCCTGCCTT	0.627000													38	114					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	118199270	118199270	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:118199270C>T	ENST00000425217.1	-	4	499	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KSR2_ENST00000339824.5_Missense_Mutation_p.E178K	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	178					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGATTGTTCTCCTTCCCCGTC	0.597000													21	88					0	0	1	0	0
PPP1R32	220004	broad.mit.edu	37	11	61249313	61249313	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:61249313C>T	ENST00000338608.2	+	2	157	c.32C>T	c.(31-33)tCc>tTc	p.S11F	PPP1R32_ENST00000432063.2_Missense_Mutation_p.S11F|RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron	NM_145017.2	NP_659454.2	Q7Z5V6	CK066_HUMAN	protein phosphatase 1, regulatory subunit 32	11																	GGGGTCGTCTCCCCTTATGTG	0.632000													23	24					0	0	1	0	0
FOXL2	668	broad.mit.edu	37	3	138665125	138665125	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:138665125C>T	ENST00000330315.3	-	1	857	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	147					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CTTCATGCGGCGGCGGCGCCG	0.751000			Mis		granulosa-cell tumour of the ovary		"""Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"""						3	15					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33779649	33779649	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:33779649C>T	ENST00000261326.5	+	4	324	c.303C>T	c.(301-303)atC>atT	p.I101I		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	101					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CTTCCAGAATCCTGGCGCACT	0.537000													23	52					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102227834	102227834	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:102227834G>A	ENST00000376180.3	+	4	742	c.523G>A	c.(523-525)Ggt>Agt	p.G175S	ITGBL1_ENST00000545560.2_Missense_Mutation_p.G34S|ITGBL1_ENST00000376162.3_Missense_Mutation_p.G82S	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	175	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACTTGTGTATGGTAAATTTTG	0.358000													31	99					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233518193	233518193	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:233518193C>T	ENST00000366624.3	+	10	3108	c.2847C>T	c.(2845-2847)tcC>tcT	p.S949S	MLK4_ENST00000366622.1_Silent_p.S395S	NM_032435.2	NP_115811.2																					GCCCTGCCTCCCTGAGAAGCC	0.612000													27	66					0	0	1	0	0
LOC344967	344967	broad.mit.edu	37	4	40045341	40045341	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:40045341C>T	ENST00000381811.2	-	0	808					NR_027277.1																						CCTGCTCCTGCCGGAAATACA	0.587000													12	0					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64629908	64629908	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:64629908C>T	ENST00000536360.1	-	8	1891	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	360	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GTGCAGATATCATATCTATGG	0.279000													14	15					0	0	1	0	0
MTMR8	55613	broad.mit.edu	37	X	63444870	63444870	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:63444870G>A	ENST00000453546.1	-	10	1875	c.1786C>T	c.(1786-1788)Cca>Tca	p.P596S	ASB12_ENST00000362002.2_Missense_Mutation_p.P221S|ASB12_ENST00000396130.2_Missense_Mutation_p.P212S			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	512						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CGGGGTCTTGGGACACGAGCC	0.537000													7	7					0	0	1	0	0
PSG6	5675	broad.mit.edu	37	19	43411772	43411772	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:43411772C>T	ENST00000187910.2	-	4	1006	c.941G>A	c.(940-942)cGa>cAa	p.R314Q	PSG6_ENST00000402603.4_Intron|PSG6_ENST00000292125.2_Missense_Mutation_p.R314Q	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GCCACCATATCGGTCCCGTAT	0.498000													37	132					0	0	1	0	0
TRIM62	55223	broad.mit.edu	37	1	33631164	33631164	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:33631164C>T	ENST00000291416.5	-	2	645	c.412G>A	c.(412-414)Gag>Aag	p.E138K	TRIM62_ENST00000485148.1_5'UTR|TRIM62_ENST00000543586.1_Missense_Mutation_p.E17K	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	138						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				TCCTTCAGCTCCCTCTGAAAC	0.642000													12	0					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6828179	6828179	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:6828179C>T	ENST00000304076.2	+	10	1114	c.1020C>T	c.(1018-1020)ctC>ctT	p.L340L	VAV1_ENST00000599806.1_Silent_p.L285L|VAV1_ENST00000602142.1_Silent_p.L340L|VAV1_ENST00000539284.1_Silent_p.L243L|VAV1_ENST00000596764.1_Silent_p.L308L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	340	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						ACCTCCTTCTCCAGGTGCCAG	0.572000													13	30					0	0	1	0	0
CCIN	881	broad.mit.edu	37	9	36170244	36170244	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:36170244C>T	ENST00000335119.2	+	1	856	c.745C>T	c.(745-747)Cat>Tat	p.H249Y		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	249					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			CACCTCATCCCATACAACCCT	0.522000													15	2					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1474290	1474290	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:1474290G>A	ENST00000297508.7	-	17	2832	c.2657C>T	c.(2656-2658)tCc>tTc	p.S886F	MICALL2_ENST00000405088.4_Missense_Mutation_p.S674F|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	886						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		GCGGAACTTGGACTTCTTCCT	0.632000													16	131					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73070878	73070878	+	Splice_Site	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:73070878G>A	ENST00000263674.3	+	10	4437		c.e10-1			NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17						actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TCTCCCTCTAGGGGCATCCCA	0.597000													7	46					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77474085	77474085	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:77474085G>A	ENST00000560626.2	-	4	659	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W	PEAK1_ENST00000312493.4_Missense_Mutation_p.R62W|PEAK1_ENST00000558305.1_Missense_Mutation_p.R62W			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	62					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										ACAGGAGGCCGGAAATTGCCC	0.502000													81	81					0	0	1	0	0
HDC	3067	broad.mit.edu	37	15	50540510	50540510	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:50540510G>A	ENST00000267845.3	-	10	1474	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C	HDC_ENST00000543581.1_Intron	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	358					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TTAACAGAGCGAAACCGTCGG	0.547000													14	18					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155241618	155241618	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155241618C>T	ENST00000357232.3	-	14	3567	c.3568G>A	c.(3568-3570)Gat>Aat	p.D1190N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1190	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCGTCTGGATCGTGAGCAGTT	0.453000													72	122					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816103	101816103	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:101816103C>T	ENST00000506729.1	-	2	565	c.394G>A	c.(394-396)Gat>Aat	p.D132N	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.D132N|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.D132N|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.D132N|SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.D132N			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	132						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTCTGAAAATCGCCAATGCTG	0.333000													14	48					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101997716	101997716	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:101997716C>T	ENST00000251127.6	-	7	781	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	NALCN_ENST00000376196.3_Missense_Mutation_p.E234K|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	234						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAGCCTTCTTCTAGCTCTGGT	0.438000													23	63					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55221331	55221331	+	RNA	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:55221331C>T	ENST00000413439.1	+	0	1118																											ACTCTTCTTTCCCTCCAGGCG	0.622000													4	14					0	0	1	0	0
PASD1	139135	broad.mit.edu	37	X	150817138	150817138	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:150817138A>G	ENST00000370357.4	+	9	926	c.681A>G	c.(679-681)gaA>gaG	p.E227E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	227						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TGTACGTTGAACCCgctgctg	0.433000													68	3					0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791303	95791303	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:95791303G>A	ENST00000260766.3	+	2	1134	c.500G>A	c.(499-501)gGa>gAa	p.G167E	PLCE1_ENST00000371380.2_Missense_Mutation_p.G167E	NM_016341.3	NP_057425.3	Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	167					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTCCTTTAGGAAATCAGTCA	0.428000													27	69					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11598658	11598658	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11598658G>A	ENST00000293771.5	-	4	756	c.620C>T	c.(619-621)tCt>tTt	p.S207F	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	207	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGACTCCTCAGAGTCAGAGGC	0.647000													5	19					0	0	1	0	0
TAS2R13	50838	broad.mit.edu	37	12	11061756	11061756	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:11061756G>A	ENST00000390677.2	-	1	405	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	48					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AAGATAATGAGGAGTTTATCG	0.393000													10	32					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129563246	129563246	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:129563246T>C	ENST00000422113.2	-	8	2274	c.1948A>G	c.(1948-1950)Atc>Gtc	p.I650V	TMEM132D_ENST00000389441.4_Missense_Mutation_p.I188V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	650						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCAGCGAGGATGGTGTCTGAC	0.567000													18	64					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61542779	61542779	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:61542779C>T	ENST00000266070.4	-	3	511	c.186G>A	c.(184-186)cgG>cgA	p.R62R	DIDO1_ENST00000370366.1_Silent_p.R62R|DIDO1_ENST00000370368.1_Silent_p.R62R|DIDO1_ENST00000370371.4_Silent_p.R62R|DIDO1_ENST00000354665.4_Silent_p.R62R|DIDO1_ENST00000395343.1_Silent_p.R62R|DIDO1_ENST00000395335.2_Silent_p.R62R|DIDO1_ENST00000266071.5_Silent_p.R62R|DIDO1_ENST00000395340.1_Silent_p.R62R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	62					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCCCACTGCGCCGCAGGGACA	0.692000													5	26					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9538327	9538327	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:9538327G>A	ENST00000378429.3	-	8	2217	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	PAK7_ENST00000378423.1_Silent_p.S557S|PAK7_ENST00000353224.5_Silent_p.S557S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	557	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TATGAAGGTAGGAGAGAGCTC	0.438000													19	26					0	0	1	0	0
BOD1L2	284257	broad.mit.edu	37	18	54814861	54814861	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:54814861G>A	ENST00000585477.1	+	1	569	c.318G>A	c.(316-318)gtG>gtA	p.V106V		NM_001257964.1	NP_001244893.1			biorientation of chromosomes in cell division 1-like 2																		GGCAGAGTGTGGTTCAGTCAG	0.478000													8	9					0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553128	6553128	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:6553128C>T	ENST00000263125.5	-	3	246	c.147G>A	c.(145-147)aaG>aaA	p.K49K	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.K49K	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	49	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ACATGGTAGGCTTTTTCTGGA	0.448000													50	71					0	0	1	0	0
PDE1A	5136	broad.mit.edu	37	2	183104927	183104927	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:183104927C>T	ENST00000435564.1	-	3	508	c.308G>A	c.(307-309)cGg>cAg	p.R103Q	PDE1A_ENST00000358139.2_Missense_Mutation_p.R103Q|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Missense_Mutation_p.R87Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.R103Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.R103Q|PDE1A_ENST00000410103.1_Missense_Mutation_p.R103Q|PDE1A_ENST00000409365.1_Missense_Mutation_p.R87Q|PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000346717.4_Missense_Mutation_p.R69Q	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	103					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			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)			CCCCATTTTCCGTGTAAAGGT	0.423000													14	46					0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7749185	7749185	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:7749185G>A	ENST00000358415.4	+	3	347	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	ITIH2_ENST00000379587.4_Intron|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	61	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGGAGAATCGGAAGAAATGAT	0.368000													25	42					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11835355	11835355	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:11835355G>A	ENST00000262442.3	+	64	12198	c.12130G>A	c.(12130-12132)Gag>Aag	p.E4044K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E3968K|DNAH9_ENST00000396001.2_Missense_Mutation_p.E356K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	4044	AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGTTCTCGGGAGACGGAGTT	0.498000													64	253					0	0	1	0	0
ADORA3	140	broad.mit.edu	37	1	112045922	112045922	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:112045922C>T	ENST00000241356.4	-	1	460	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	ADORA3_ENST00000369716.4_Missense_Mutation_p.E19K|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	19					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	ATGAAAATTTCCATGGTGATG	0.532000													9	7					0	0	1	0	0
NTMT1	28989	broad.mit.edu	37	9	132396539	132396539	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:132396539C>T	ENST00000372486.1	+	3	718	c.369C>T	c.(367-369)acC>acT	p.T123T	NTMT1_ENST00000372480.1_Silent_p.T123T|NTMT1_ENST00000482347.1_Silent_p.T35T|NTMT1_ENST00000372481.3_Intron|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000372483.4_Silent_p.T123T					N-terminal Xaa-Pro-Lys N-methyltransferase 1																		AGGACTTCACCCCGGAGCCGG	0.587000													24	29					0	0	1	0	0
ZNF429	353088	broad.mit.edu	37	19	21712583	21712583	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:21712583C>T	ENST00000358491.4	+	2	335	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	ZNF429_ENST00000597078.1_Silent_p.L43L|ZNF429_ENST00000594022.1_3'UTR	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	43	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						CTTGGTCTTCCTGGGTGAGAA	0.373000													23	64					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6131123	6131123	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:6131123A>G	ENST00000261405.5	-	27	3871	c.3617T>C	c.(3616-3618)tTt>tCt	p.F1206S		NM_000552.3	NP_000543.2	P04275	VWF_HUMAN	von Willebrand factor	1206					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCCTGAGGCAAAACGCCGGCC	0.478000													28	179					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793102	65793102	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:65793102T>A	ENST00000312106.5	-	1	886	c.749A>T	c.(748-750)cAt>cTt	p.H250L		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	250	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CACAGAGGAATGAGGGGAAAT	0.572000													14	25					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17464811	17464811	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:17464811A>T	ENST00000302539.4	-	9	1506	c.1381T>A	c.(1381-1383)Tta>Ata	p.L461I	ABCC8_ENST00000389817.3_Missense_Mutation_p.L461I	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	461	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GCTCCAATTAAGGCACTGACT	0.547000													134	165					0	0	1	0	0
ZNF382	84911	broad.mit.edu	37	19	37101563	37101563	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:37101563G>A	ENST00000435416.1	+	2	1646	c.151G>A	c.(151-153)Gct>Act	p.A51T	ZNF382_ENST00000439428.1_Missense_Mutation_p.A50T|ZNF382_ENST00000292928.2_Missense_Mutation_p.A51T|ZNF382_ENST00000423582.1_Missense_Mutation_p.A2T			Q96SR6	ZN382_HUMAN	zinc finger protein 382	51	KRAB.|Mediates interaction with TRIM28 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTTCACATGGCTAAGCCTGA	0.373000													10	51					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21908575	21908575	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:21908575A>T	ENST00000328843.6	+	74	11985	c.11954A>T	c.(11953-11955)aAa>aTa	p.K3985I	DNAH11_ENST00000409508.3_Missense_Mutation_p.K3978I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3985	AAA 6 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCCTGGAGAAAGCTTCCAAA	0.512000									Kartagener syndrome				34	76					0	0	1	0	0
RAVER2	55225	broad.mit.edu	37	1	65268667	65268667	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:65268667G>A	ENST00000294428.3	+	6	1192	c.1114G>A	c.(1114-1116)Gga>Aga	p.G372R	RAVER2_ENST00000430964.2_Missense_Mutation_p.G78R|RAVER2_ENST00000371072.4_Missense_Mutation_p.G372R			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	372						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						AGCCGTTCTTGGAACACCTCA	0.303000													18	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179640473	179640473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:179640473G>A	ENST00000589042.1	-	28	6342	c.6118C>T	c.(6118-6120)Cac>Tac	p.H2040Y	TTN_ENST00000342992.6_Missense_Mutation_p.H2040Y|TTN_ENST00000460472.2_Missense_Mutation_p.H1994Y|TTN_ENST00000359218.5_Missense_Mutation_p.H1994Y|TTN_ENST00000342175.6_Missense_Mutation_p.H1994Y|TTN_ENST00000360870.5_Missense_Mutation_p.H2040Y|TTN_ENST00000591111.1_Missense_Mutation_p.H2040Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1802							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGTCCAGTGGAGAAGTTCA	0.428000													68	41					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55726246	55726246	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:55726246C>T	ENST00000379667.1	+	1	762	c.762C>T	c.(760-762)ttC>ttT	p.F254F		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCTGTATATTCATGTATGCTA	0.388000													9	43					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38121961	38121961	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:38121961C>T	ENST00000301659.4	+	2	139	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	7					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TTGAAAATGTCACCCGGGCCC	0.587000													6	9					0	0	1	0	0
ZNF598	90850	broad.mit.edu	37	16	2049799	2049799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:2049799G>A	ENST00000563630.1	-	9	1828	c.1586C>T	c.(1585-1587)cCc>cTc	p.P529L	ZNF598_ENST00000562103.1_Missense_Mutation_p.P529L|ZNF598_ENST00000431526.1_Missense_Mutation_p.P584L			Q86UK7	ZN598_HUMAN	zinc finger protein 598	584						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						AACTTTAGAGGGTTGGATGGA	0.667000													3	12					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186671030	186671030	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:186671030G>A	ENST00000343098.5	+	17	17264	c.17264G>A	c.(17263-17265)aGg>aAg	p.R5755K	FSIP2_ENST00000424728.1_Missense_Mutation_p.R5666K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAAACGTGTAGGGATGAGGAA	0.368000													7	13					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975264	20975264	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr16:20975264G>A	ENST00000261383.3	-	53	9941	c.9942C>T	c.(9940-9942)atC>atT	p.I3314I	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3314					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATCGGCTCGATGTTGGCCA	0.507000													18	58					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287388	16287388	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr22:16287388C>T	ENST00000343518.6	-	1	549	c.498G>A	c.(496-498)atG>atA	p.M166I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	166										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACCTCGGCTCCATGAAAGCGC	0.592000													28	172					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238249665	238249665	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:238249665G>A	ENST00000295550.4	-	38	8346	c.7894C>T	c.(7894-7896)Ctg>Ttg	p.L2632L	COL6A3_ENST00000353578.4_Silent_p.L2426L|COL6A3_ENST00000409809.1_Silent_p.L2426L|COL6A3_ENST00000347401.3_Silent_p.L2431L|COL6A3_ENST00000346358.4_Silent_p.L2432L|COL6A3_ENST00000472056.1_Silent_p.L2025L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2632	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACTGGAACAGGGTGGTGGTC	0.552000													51	108					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32633764	32633764	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:32633764C>T	ENST00000242310.4	-	1	1903	c.1814G>A	c.(1813-1815)gGg>gAg	p.G605E	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	605					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GATAATATTCCCTCCAAAGGT	0.493000													37	29					0	0	1	0	0
SCAMP1	9522	broad.mit.edu	37	5	77755108	77755108	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:77755108C>T	ENST00000538629.1	+	8	932	c.775C>T	c.(775-777)Cct>Tct	p.P259S	SCAMP1_ENST00000339292.4_3'UTR	NM_004866.4	NP_004857.4	O15126	SCAM1_HUMAN	secretory carrier membrane protein 1	259					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|recycling endosome membrane|trans-Golgi network	protein binding						all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		CCAAAATATTCCTGTTGGAAT	0.308000													12	5					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131844238	131844238	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:131844238C>T	ENST00000359827.3	-	25	5616	c.4654G>A	c.(4654-4656)Gat>Aat	p.D1552N	PLXNA4_ENST00000321063.4_Missense_Mutation_p.D1552N			Q9HCM2	PLXA4_HUMAN	plexin A4	1552						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCACCCAGATCCATATCTGCA	0.557000													40	117					0	0	1	0	0
SBNO1	55206	broad.mit.edu	37	12	123798171	123798171	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:123798171A>G	ENST00000420886.2	-	23	3215	c.3216T>C	c.(3214-3216)ttT>ttC	p.F1072F	SBNO1_ENST00000267176.4_Silent_p.F1071F|SBNO1_ENST00000602750.1_Silent_p.F1071F|SBNO1_ENST00000602398.1_Silent_p.F1072F	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1072							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		AGTTACCTTTAAAAAATTCTC	0.313000													6	23					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686623	54686623	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:54686623C>T	ENST00000540264.2	-	2	1166	c.657G>A	c.(655-657)cgG>cgA	p.R219R	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000312156.4_Silent_p.R219R|NFE2_ENST00000553070.1_Silent_p.R219R|NFE2_ENST00000435572.2_Silent_p.R219R			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	219					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						CTGCCTCCCCCCGTGCAGTGG	0.582000													8	33					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062157	9062157	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:9062157G>A	ENST00000397910.4	-	3	25492	c.25289C>T	c.(25288-25290)gCc>gTc	p.A8430V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8432	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						TCCCTCTGTGGCTGAGCTGAT	0.517000													30	39					0	0	1	0	0
SIRT3	23410	broad.mit.edu	37	11	218814	218814	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:218814C>T	ENST00000524564.1	-	5	1030	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E	SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000382743.4_Intron|SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000532956.1_Intron			Q9NTG7	SIRT3_HUMAN	sirtuin 3	393	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TTGGATGGTCCTCCTCAGCAG	0.552000													19	42					0	0	1	0	0
OSCAR	126014	broad.mit.edu	37	19	54600214	54600214	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54600214C>T	ENST00000284648.6	-	4	505	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	OSCAR_ENST00000391761.1_Missense_Mutation_p.R92Q|OSCAR_ENST00000391760.1_Silent_p.P45P|OSCAR_ENST00000351806.4_Missense_Mutation_p.R92Q|OSCAR_ENST00000356532.3_Missense_Mutation_p.R107Q|OSCAR_ENST00000359649.4_Missense_Mutation_p.R107Q|OSCAR_ENST00000358375.4_Missense_Mutation_p.R103Q			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	103	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GTCTGGCCTTCGGTAGCAGCA	0.632000													19	18					0	0	1	0	0
MRAP2	112609	broad.mit.edu	37	6	84798839	84798839	+	Missense_Mutation	SNP	G	G	A	rs147564754		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:84798839G>A	ENST00000257776.4	+	4	392	c.257G>A	c.(256-258)aGa>aAa	p.R86K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	86					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	p.R86K(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						AAGAGATTCAGAATGAACAGC	0.433000													13	13					0	0	1	0	0
LDLR	3949	broad.mit.edu	37	19	11213363	11213363	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:11213363G>A	ENST00000558518.1	+	3	401	c.214G>A	c.(214-216)Gac>Aac	p.D72N	LDLR_ENST00000557933.1_Missense_Mutation_p.D72N|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000545707.1_Missense_Mutation_p.D72N|LDLR_ENST00000455727.2_Missense_Mutation_p.D72N|LDLR_ENST00000558013.1_Missense_Mutation_p.D72N	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	72	LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAAATCCGGGGACTTCAGCTG	0.572000													86	320					0	0	1	0	0
EYA1	2138	broad.mit.edu	37	8	72211932	72211932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:72211932C>T	ENST00000340726.3	-	8	1219	c.580G>A	c.(580-582)Gga>Aga	p.G194R	EYA1_ENST00000419131.1_Missense_Mutation_p.G189R|EYA1_ENST00000303824.7_Missense_Mutation_p.G188R|EYA1_ENST00000388742.4_Missense_Mutation_p.G194R|EYA1_ENST00000388740.3_Missense_Mutation_p.G161R|EYA1_ENST00000388743.2_Missense_Mutation_p.G193R|EYA1_ENST00000388741.2_Missense_Mutation_p.G160R	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	194					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G194R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			GTATATATTCCTGATGATGTT	0.303000													17	69					0	0	1	0	0
IARS	3376	broad.mit.edu	37	9	95007262	95007262	+	Silent	SNP	A	A	G			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr9:95007262A>G	ENST00000375643.3	-	27	3149	c.2883T>C	c.(2881-2883)ttT>ttC	p.F961F	IARS_ENST00000375629.3_Silent_p.F14F|IARS_ENST00000375627.1_Silent_p.F14F|IARS_ENST00000443024.2_Silent_p.F961F|IARS_ENST00000447699.2_Silent_p.F851F	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	961					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTGTGCTTCAAATTGCGCAG	0.458000													29	1					0	0	1	0	0
FFAR3	2865	broad.mit.edu	37	19	35850311	35850311	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:35850311C>T	ENST00000327809.4	+	2	720	c.519C>T	c.(517-519)ttC>ttT	p.F173F	FFAR3_ENST00000594310.1_Silent_p.F173F	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	173						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ACCTGGAGTTCCGGAAGGACC	0.607000													20	64					0	0	1	0	0
SPATA18	132671	broad.mit.edu	37	4	52926663	52926663	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:52926663G>A	ENST00000295213.4	+	2	540	c.166G>A	c.(166-168)Ggg>Agg	p.G56R	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.G56R	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	56					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			ACAACTCTTTGGGATCCTCAC	0.453000													8	23					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61872316	61872316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:61872316C>T	ENST00000403491.3	+	9	1821	c.1337C>T	c.(1336-1338)gCc>gTc	p.A446V	NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000357977.5_Missense_Mutation_p.A94V|NFIA_ENST00000485903.2_Missense_Mutation_p.A403V|NFIA_ENST00000407417.3_Missense_Mutation_p.A438V|NFIA_ENST00000371184.2_Missense_Mutation_p.A317V|NFIA_ENST00000371185.2_Missense_Mutation_p.A424V|NFIA_ENST00000371187.3_Missense_Mutation_p.A446V|NFIA_ENST00000371189.4_Missense_Mutation_p.A491V|NFIA_ENST00000371191.1_Missense_Mutation_p.A469V	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	446					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CCACCGATGGCCAGGCCTGTG	0.647000													11	1					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47030424	47030424	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:47030424C>T	ENST00000450053.3	+	3	412	c.233C>T	c.(232-234)gCc>gTc	p.A78V	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.A78V	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	78							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTGGAGCAAGCCCTCCTGCTG	0.602000													15	29					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71492659	71492659	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:71492659C>T	ENST00000296755.7	+	5	3775	c.3477C>T	c.(3475-3477)ttC>ttT	p.F1159F		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1159						microtubule|microtubule associated complex	structural molecule activity	p.F1159F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTCAGGAATTCGTAAATATCA	0.443000													8	7					0	0	1	0	0
FLRT1	23769	broad.mit.edu	37	11	63884760	63884760	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:63884760G>A	ENST00000246841.3	+	2	2064	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	313	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GTGGCTGCGGGACTGGGTGAA	0.657000													27	39					0	0	1	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42287590	42287590	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:42287590G>A	ENST00000399518.3	-	12	1701	c.1215C>T	c.(1213-1215)gcC>gcT	p.A405A	CTD-2382E5.1_ENST00000499478.2_RNA|PLA2G4E_ENST00000413860.2_Silent_p.A376A	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	393	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TGATGTAGCTGGCACAGTCCA	0.602000													15	20					0	0	1	0	0
GC	2638	broad.mit.edu	37	4	72635064	72635064	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:72635064C>T	ENST00000273951.8	-	2	455	c.112G>A	c.(112-114)Gag>Aag	p.E38K	GC_ENST00000513476.1_Missense_Mutation_p.E38K|GC_ENST00000503472.1_5'UTR|GC_ENST00000504199.1_Missense_Mutation_p.E57K	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	38	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	GTGAAGTCCTCCTTTCCCAGA	0.428000													17	28					0	0	1	0	0
NOP14	8602	broad.mit.edu	37	4	2952880	2952880	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:2952880G>A	ENST00000416614.2	-	7	1028	c.963C>T	c.(961-963)ttC>ttT	p.F321F	NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000502735.1_Silent_p.F321F|NOP14_ENST00000314262.6_Silent_p.F321F|NOP14_ENST00000398071.4_Silent_p.F321F			P78316	NOP14_HUMAN	NOP14 nucleolar protein	321					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						TATCTAGCACGAAGCCATCAT	0.358000													69	14					0	0	1	0	0
CFHR4	10877	broad.mit.edu	37	1	196857301	196857301	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:196857301C>T	ENST00000367416.2	+	1	158	c.21C>T	c.(19-21)gtC>gtT	p.V7V	CFHR4_ENST00000367418.1_Silent_p.V7V|CFHR4_ENST00000251424.4_Silent_p.V7V|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TAATCAATGTCATTCTGACCT	0.343000													29	22					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176811564	176811564	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:176811564G>A	ENST00000367662.3	+	23	6514	c.5350G>A	c.(5350-5352)Gac>Aac	p.D1784N		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1784					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						CACCTGCCGGGACCCCAAGGC	0.512000													17	19					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	31039900	31039900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:31039900G>A	ENST00000355537.3	+	4	3521	c.3374G>A	c.(3373-3375)gGg>gAg	p.G1125E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GTTGGCTCAGGGGCCTCCAGT	0.547000													35	23					0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468694	56468694	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:56468694G>A	ENST00000288221.6	-	2	597	c.342C>T	c.(340-342)gtC>gtT	p.V114V		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	114						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGTATGAAAGGACATCTGTGT	0.522000													33	107					0	0	1	0	0
AWAT1	158833	broad.mit.edu	37	X	69460015	69460015	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:69460015G>A	ENST00000374521.3	+	7	903	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	288					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						GCCCCAAATTGAAAAGCCAAG	0.493000													21	0					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194080301	194080301	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:194080301G>A	ENST00000347624.3	-	2	1557	c.1472C>T	c.(1471-1473)cCa>cTa	p.P491L	LRRC15_ENST00000428839.1_Missense_Mutation_p.P497L|LRRC15_ENST00000439944.2_Missense_Mutation_p.P497L	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	491						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GGGTGTGTCTGGGTACCATGG	0.517000													11	19					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36172470	36172470	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:36172470G>A	ENST00000357641.6	+	3	1737	c.1484G>A	c.(1483-1485)aGg>aAg	p.R495K	BRPF3_ENST00000443324.2_Missense_Mutation_p.R495K|BRPF3_ENST00000543502.1_Missense_Mutation_p.R495K|BRPF3_ENST00000339717.7_Missense_Mutation_p.R495K|BRPF3_ENST00000534400.1_Missense_Mutation_p.R495K|BRPF3_ENST00000534694.1_Missense_Mutation_p.R495K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	495					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCCTTTCAGAGGAAAAACCAG	0.517000													29	113					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54173700	54173700	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:54173700G>A	ENST00000259782.4	+	1	448	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	TINAG_ENST00000370864.3_Missense_Mutation_p.E100K|TINAG_ENST00000370869.3_Missense_Mutation_p.E114K|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	118					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTGGTATCCAGAAGGTAGGCT	0.403000													19	86					0	0	1	0	0
RAP1GAP2	23108	broad.mit.edu	37	17	2883593	2883593	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:2883593G>A	ENST00000254695.8	+	9	699	c.609G>A	c.(607-609)aaG>aaA	p.K203K	RAP1GAP2_ENST00000366401.4_Silent_p.K188K|RAP1GAP2_ENST00000542807.1_Silent_p.K203K|RAP1GAP2_ENST00000540393.2_Silent_p.K184K	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	203					regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity	p.K203N(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CCAAACTGAAGACGGTACATG	0.542000													11	64					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666202	20666202	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:20666202C>T	ENST00000357366.3	+	1	708	c.708C>T	c.(706-708)gtC>gtT	p.V236V		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TAGAGCTTGTCTTTTCTGTCT	0.468000													65	95					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21260958	21260958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:21260958C>T	ENST00000233242.1	-	5	536	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K	APOB_ENST00000399256.4_Missense_Mutation_p.E137K	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	137	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCTTCCCTTCTGGAATGGCC	0.512000													262	322					0	0	1	0	0
TMC2	117532	broad.mit.edu	37	20	2597926	2597926	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:2597926C>T	ENST00000358864.1	+	16	2164	c.2149C>T	c.(2149-2151)Ctc>Ttc	p.L717F	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	717						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATCATGTCCCTCCCACCCTC	0.637000													10	39					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21951999	21951999	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:21951999G>A	ENST00000289921.7	+	2	140	c.94G>A	c.(94-96)Ggc>Agc	p.G32S		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	32										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GCACTGGAAGGGCATCACGCA	0.662000													33	57					0	0	1	0	0
RRAGC	64121	broad.mit.edu	37	1	39318076	39318076	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:39318076G>A	ENST00000373001.3	-	4	902	c.726C>T	c.(724-726)acC>acT	p.T242T		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	242					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GGTTTTCCAAGGTCGGCAGTT	0.328000													78	12					0	0	1	0	0
SH2D1A	4068	broad.mit.edu	37	X	123504071	123504071	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chrX:123504071C>T	ENST00000371139.4	+	3	546	c.247C>T	c.(247-249)Ctc>Ttc	p.L83F	SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83F|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000470647.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373000													54	4					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10431132	10431132	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:10431132C>T	ENST00000245503.5	-	28	4188	c.3804G>A	c.(3802-3804)aaG>aaA	p.K1268K	MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Silent_p.K1268K|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1268					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCTCCTCTTCCTTTGATTTCA	0.483000													37	49					0	0	1	0	0
PARM1	25849	broad.mit.edu	37	4	75937875	75937875	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:75937875C>T	ENST00000307428.7	+	2	496	c.284C>T	c.(283-285)tCg>tTg	p.S95L	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	95					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						AGCCCAGGTTCGAATTGGGAA	0.527000													19	102					0	0	1	0	0
TAS2R3	50831	broad.mit.edu	37	7	141463992	141463992	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:141463992C>T	ENST00000247879.2	+	1	96	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	12					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GTTCCTGATTCTGTCTGGCAC	0.453000													39	123					0	0	1	0	0
FERMT1	55612	broad.mit.edu	37	20	6060173	6060173	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr20:6060173C>T	ENST00000217289.4	-	14	2558	c.1770G>A	c.(1768-1770)ttG>ttA	p.L590L	FERMT1_ENST00000536936.1_Silent_p.L333L|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	590	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAATTTTAATCAACCTGTTAT	0.363000													29	63					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95761542	95761542	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:95761542C>T	ENST00000311106.3	-	3	615	c.378G>A	c.(376-378)tgG>tgA	p.W126*	PCSK1_ENST00000508626.1_Nonsense_Mutation_p.W79*|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	126	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATTGCTGATTCCACATGGGAT	0.418000													14	21					0	0	1	0	0
TTC40	54777	broad.mit.edu	37	10	134752115	134752115	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:134752115C>T	ENST00000368586.5	-	5	614	c.514G>A	c.(514-516)Gag>Aag	p.E172K	TTC40_ENST00000368582.2_Missense_Mutation_p.E172K|TTC40_ENST00000368585.3_Missense_Mutation_p.E172K	NM_001200049.2	NP_001186978.2	Q8IYW2	CJ092_HUMAN	tetratricopeptide repeat domain 40	0										breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCACGCCACTCCTTGTCTTCC	0.607000													44	29					0	0	1	0	0
PLXDC1	57125	broad.mit.edu	37	17	37234268	37234268	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:37234268C>T	ENST00000315392.4	-	11	1295	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000539608.1_3'UTR|PLXDC1_ENST00000444911.2_Missense_Mutation_p.E322K|CTD-2206N4.4_ENST00000583447.1_RNA	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	362					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCGTGGTCCTCATCCTGGAAG	0.552000													31	61					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782698	54782698	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:54782698G>A	ENST00000391748.1	-	6	1051	c.924C>T	c.(922-924)gcC>gcT	p.A308A	LILRB2_ENST00000434421.1_Silent_p.A192A|LILRB2_ENST00000314446.5_Silent_p.A308A|LILRB2_ENST00000391746.1_Silent_p.A308A|LILRB2_ENST00000391749.4_Silent_p.A308A	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	308	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCGCTGGGGGCCGAGCACT	0.647000													13	31					0	0	1	0	0
FOXO1	2308	broad.mit.edu	37	13	41134548	41134548	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:41134548G>A	ENST00000379561.5	-	2	1464	c.1080C>T	c.(1078-1080)ccC>ccT	p.P360P		NM_002015.3	NP_002006.2	Q12778	FOXO1_HUMAN	forkhead box O1	360					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		CAGACAGACTGGGTAAAGTAG	0.458000													78	33					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129904029	129904029	+	Silent	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:129904029G>A	ENST00000368654.3	-	13	6450	c.6075C>T	c.(6073-6075)acC>acT	p.T2025T	MKI67_ENST00000368653.3_Silent_p.T1665T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2025	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGTCTGTGTGGTCTTCCCTG	0.498000													48	219					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553722	19553722	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:19553722C>T	ENST00000409832.3	+	1	358	c.306C>T	c.(304-306)tgC>tgT	p.C102C		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	102										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCAAGTGGTGCTGCCACTGCT	0.617000													77	463					0	0	1	0	0
STRIP2	57464	broad.mit.edu	37	7	129093175	129093175	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:129093175C>T	ENST00000249344.2	+	5	557	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	STRIP2_ENST00000435494.2_Missense_Mutation_p.H173Y	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GGAGCTACTCCACATGGAAAT	0.512000													22	40					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32562880	32562880	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr14:32562880C>A	ENST00000345122.3	+	2	3320	c.3005C>A	c.(3004-3006)cCa>cAa	p.P1002Q	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P1002Q|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P1002Q|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P1002Q|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1002					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CAGTTGCTTCCAACACCTAGT	0.418000													50	53					1.17673e-23	1.19199e-23	1	1	0
PKM	5315	broad.mit.edu	37	15	72502197	72502197	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr15:72502197C>T	ENST00000319622.6	-	5	838	c.382G>A	c.(382-384)Ggc>Agc	p.G128S	PKM_ENST00000389093.3_Missense_Mutation_p.G128S|PKM_ENST00000449901.2_Missense_Mutation_p.G113S|PKM_ENST00000335181.5_Missense_Mutation_p.G128S|PKM_ENST00000568883.1_Intron|PKM_ENST00000568459.1_Missense_Mutation_p.G128S|PKM_ENST00000565154.1_Missense_Mutation_p.G128S|PKM_ENST00000565184.1_Missense_Mutation_p.G128S	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						TCTGCAGTGCCGCTCTAGGGA	0.512000													17	98					0	0	1	0	0
KCNH2	3757	broad.mit.edu	37	7	150654535	150654535	+	Silent	SNP	G	G	A	rs146297032		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:150654535G>A	ENST00000392968.2	-	3	1804	c.684C>T	c.(682-684)ctC>ctT	p.L228L	KCNH2_ENST00000262186.5_Silent_p.L324L|KCNH2_ENST00000430723.3_Silent_p.L324L			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	324					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GGTAGCGCACGAGGTCGGAGT	0.632000													4	29					0	0	1	0	0
SEMA4C	54910	broad.mit.edu	37	2	97527320	97527320	+	Silent	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:97527320C>T	ENST00000305476.5	-	14	1800	c.1668G>A	c.(1666-1668)aaG>aaA	p.K556K		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	556	Ig-like C2-type.				muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GCTCACCTTTCTTACTGCCAC	0.547000													45	80					0	0	1	0	0
FGA	2243	broad.mit.edu	37	4	155507202	155507202	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:155507202G>A	ENST00000302053.3	-	5	1457	c.1379C>T	c.(1378-1380)tCa>tTa	p.S460L	FGA_ENST00000403106.3_Missense_Mutation_p.S460L	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	460					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTAGAGCATGAACGACGCGT	0.468000													136	129					0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136570120	136570120	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:136570120G>A	ENST00000264162.2	-	7	2124	c.2114C>T	c.(2113-2115)aCc>aTc	p.T705I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	705	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCCTCCAATGGTATCATAGCT	0.547000													18	39					0	0	1	0	0
CAMKK2	10645	broad.mit.edu	37	12	121691199	121691199	+	Silent	SNP	G	G	A	rs149343557		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:121691199G>A	ENST00000324774.5	-	10	1812	c.984C>T	c.(982-984)atC>atT	p.I328I	CAMKK2_ENST00000392473.2_Silent_p.I328I|CAMKK2_ENST00000337174.3_Silent_p.I328I|CAMKK2_ENST00000538733.1_Silent_p.I328I|CAMKK2_ENST00000404169.3_Silent_p.I328I|CAMKK2_ENST00000347034.2_Silent_p.I328I|CAMKK2_ENST00000535524.1_5'UTR|CAMKK2_ENST00000412367.2_Silent_p.I328I|CAMKK2_ENST00000392474.2_Silent_p.I328I|CAMKK2_ENST00000446440.2_Silent_p.I328I|CAMKK2_ENST00000402834.4_Silent_p.I328I|CAMKK2_ENST00000545538.1_Silent_p.I115I	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	328	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAAGTCAGCGATCTTGATGT	0.567000													127	483					0	0	1	0	0
IRGC	56269	broad.mit.edu	37	19	44223413	44223413	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:44223413G>A	ENST00000244314.5	+	2	902	c.703G>A	c.(703-705)Gac>Aac	p.D235N		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	235						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CTGGGAGCACGACCTGCCCTC	0.667000													12	16					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77413025	77413025	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:77413025C>T	ENST00000308488.6	-	6	1551	c.1249G>A	c.(1249-1251)Gaa>Aaa	p.E417K	RSF1_ENST00000480887.1_Missense_Mutation_p.E165K|RSF1_ENST00000360355.2_Missense_Mutation_p.E386K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	417					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGTTTTATTTCATCTTTCAAA	0.358000													14	51					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19491679	19491679	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:19491679G>A	ENST00000328405.2	+	9	1723	c.1457G>A	c.(1456-1458)aGa>aAa	p.R486K	KCNH8_ENST00000537696.1_Missense_Mutation_p.R155K	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	486						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TATCACACTAGAACTAAGGAT	0.443000													14	43					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													7	139	---	---	---	---					
ASTL	431705	broad.mit.edu	37	2	96799172	96799172	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr2:96799172delG	ENST00000342380.2	-	5	446	c.447delC	c.(445-447)ccfs	p.P149fs		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	149					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						ACCCATACATGGGGATGATGG	0.537													32	43	---	---	---	---					
BRPF1	7862	broad.mit.edu	37	3	9781064	9781071	+	Frame_Shift_Del	DEL	TGTGGATT	TGTGGATT	-	rs150922097		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:9781064_9781071delTGTGGATT	ENST00000383829.2	+	3	1385_1392	c.981_988delTGTGGATT	c.(979-990)gcgtfs	p.AVDC327fs	BRPF1_ENST00000302054.3_Frame_Shift_Del_p.AVDC327fs|BRPF1_ENST00000433861.2_Frame_Shift_Del_p.AVDC327fs|BRPF1_ENST00000457855.1_Frame_Shift_Del_p.AVDC327fs|BRPF1_ENST00000424362.1_Frame_Shift_Del_p.AVDC327fs	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	327					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCTCTCGTGCTGTGGATTGTGCCCTGTG	0.630													18	100	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52595893	52595900	+	Frame_Shift_Del	DEL	ATCTCACT	ATCTCACT	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr3:52595893_52595900delATCTCACT	ENST00000356770.4	-	24	4077_4084	c.4075_4082delAGTGAGAT	c.(4075-4083)gfs	p.SEM1359fs	PBRM1_ENST00000337303.4_Frame_Shift_Del_p.SEM1391fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.SEM1391fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.SEM1391fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.SEM1406fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.SEM1366fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.SEM1406fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.SEM1339fs			Q86U86	PB1_HUMAN	polybromo 1	1391					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CACAGCCCTCATCTCACTGCTGAACAGG	0.510			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								117	62	---	---	---	---					
OCIAD1	54940	broad.mit.edu	37	4	48859263	48859264	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr4:48859263_48859264insA	ENST00000381473.3	+	8	999_1000	c.581_582insA	c.(580-582)aaafs	p.K194fs	OCIAD1_ENST00000508293.1_Frame_Shift_Ins_p.K194fs|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000509122.1_Frame_Shift_Ins_p.K167fs|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000264312.7_Frame_Shift_Ins_p.K194fs|OCIAD1_ENST00000513391.2_Frame_Shift_Ins_p.K194fs	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	194						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AGTCCTAAAAGAAAAAATATTA	0.317													26	24	---	---	---	---					
GTF2H2B	653238	broad.mit.edu	37	5	69730870	69730870	+	RNA	DEL	A	A	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:69730870delA	ENST00000513202.1	+	0	861					NR_033417.1																						TTATGTTTTTAAAAAATACAT	0.303													7	15	---	---	---	---					
TLX3	30012	broad.mit.edu	37	5	170736501	170736517	+	Frame_Shift_Del	DEL	GGGAGGGCCCCCCGGGG	GGGAGGGCCCCCCGGGG	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr5:170736501_170736517delGGGAGGGCCCCCCGGGG	ENST00000296921.5	+	1	214_230	c.132_148delGGGAGGGCCCCCCGGGG	c.(130-150)ctgcfs	p.LGGPPGG44fs		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCAGCTACCTGGGAGGGCCCCCCGGGGGCCGTCCGGG	0.719			T	BCL11B	T-ALL								5	10	---	---	---	---					
KIAA1009	22832	broad.mit.edu	37	6	84871509	84871509	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr6:84871509delG	ENST00000403245.3	-	20	2746	c.2632delC	c.(2632-2634)ggfs	p.R878fs	KIAA1009_ENST00000257766.4_Frame_Shift_Del_p.R802fs|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	878					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TCTCTAAGCCGAAGTGCATCT	0.333													4	6	---	---	---	---					
ZNF733P	643955	broad.mit.edu	37	7	62758873	62758873	+	RNA	DEL	A	A	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:62758873delA	ENST00000331425.6	-	0	107					NR_003952.1																						AAAAGAGAGTAAAAAGAAGTG	0.328													5	6	---	---	---	---					
TBL2	26608	broad.mit.edu	37	7	72988772	72988772	+	Frame_Shift_Del	DEL	G	G	-	rs145718922		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:72988772delG	ENST00000305632.5	-	2	443	c.202delC	c.(202-204)ggfs	p.R68fs	TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Frame_Shift_Del_p.R68fs|TBL2_ENST00000432538.1_Frame_Shift_Del_p.R32fs	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	68										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTCCTTCCGAATCCGCTGA	0.522													16	95	---	---	---	---					
WDR91	29062	broad.mit.edu	37	7	134894380	134894381	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr7:134894380_134894381insT	ENST00000354475.4	-	2	281_282	c.250_251insA	c.(250-252)ccafs	p.P84fs	WDR91_ENST00000344400.5_Frame_Shift_Ins_p.P84fs|WDR91_ENST00000423565.1_Frame_Shift_Ins_p.P49fs	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	84										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGCTTGTGGATTGTGGGTCTG	0.495													44	91	---	---	---	---					
LRRCC1	85444	broad.mit.edu	37	8	86048155	86048155	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr8:86048155delA	ENST00000414626.2	+	13	3115	c.2226delA	c.(2224-2226)ttfs	p.L742fs	LRRCC1_ENST00000360375.3_Frame_Shift_Del_p.L762fs			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	762					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TATTTGGTTTAAGGACAGAAA	0.358													13	57	---	---	---	---					
FAM178A	55719	broad.mit.edu	37	10	102684495	102684497	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr10:102684495_102684497delAGG	ENST00000238961.3	+	5	1885_1887	c.1737_1739delAGG	c.(1735-1740)gaa>ga	p.EG579del	FAM178A_ENST00000370269.3_In_Frame_Del_p.EG579del|FAM178A_ENST00000370271.3_In_Frame_Del_p.EG579del	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A	579																	CCCCTTCAGAAGGAGAGAGTTCA	0.458													30	58	---	---	---	---					
OR5B12	390191	broad.mit.edu	37	11	58207292	58207293	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr11:58207292_58207293insA	ENST00000302572.2	-	1	353_354	c.332_333insT	c.(331-333)tctfs	p.S111fs		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGCCAGGAGGAAACTTTCTGC	0.441													46	47	---	---	---	---					
RASSF8	11228	broad.mit.edu	37	12	26218119	26218119	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:26218119delG	ENST00000405154.2	+	3	991	c.792delG	c.(790-792)cafs	p.Q264fs	RASSF8_ENST00000541490.1_Frame_Shift_Del_p.Q264fs|RASSF8_ENST00000381352.3_Frame_Shift_Del_p.Q264fs|RASSF8_ENST00000542865.1_Frame_Shift_Del_p.Q264fs|RASSF8_ENST00000282884.9_Frame_Shift_Del_p.Q264fs	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	264	Glu-rich.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATTTGGCACAGATCCGGACTA	0.383													61	98	---	---	---	---					
PLXNC1	10154	broad.mit.edu	37	12	94620392	94620392	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr12:94620392delG	ENST00000258526.4	+	8	2051	c.1802delG	c.(1801-1803)tcfs	p.C601fs		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	601					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TGCCCAGCATGCGTAGAAACT	0.463													68	4	---	---	---	---					
FAM124A	220108	broad.mit.edu	37	13	51825779	51825780	+	Frame_Shift_Ins	INS	-	-	C	rs79312598		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr13:51825779_51825780insC	ENST00000322475.8	+	3	411_412	c.276_277insC	c.(274-279)aaccccfs	p.NP92fs	FAM124A_ENST00000280057.6_Frame_Shift_Ins_p.NP128fs	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	92										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		GGCGGCGGAAGCCCCCCAAGGG	0.703													4	4	---	---	---	---					
ABCA5	23461	broad.mit.edu	37	17	67285330	67285330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:67285330delA	ENST00000392676.3	-	14	1954	c.1890delT	c.(1888-1890)ctfs	p.L630fs	ABCA5_ENST00000588877.1_Frame_Shift_Del_p.L630fs|ABCA5_ENST00000392677.2_Frame_Shift_Del_p.L630fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	630	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTGGGTTCCCAAGAACAGCAA	0.299													21	62	---	---	---	---					
CSNK1D	1453	broad.mit.edu	37	17	80210425	80210429	+	Frame_Shift_Del	DEL	GTTGA	GTTGA	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr17:80210425_80210429delGTTGA	ENST00000314028.6	-	5	966_970	c.617_621delTCAAC	c.(616-621)tfs	p.FN206fs	CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000398519.5_Frame_Shift_Del_p.FN206fs|CSNK1D_ENST00000392334.2_Frame_Shift_Del_p.FN206fs	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	206	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			GAGAGCCCAGGTTGAAGTACATTAG	0.512													44	37	---	---	---	---					
ROCK1P1	727758	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													8	7	---	---	---	---					
PPAN	56342	broad.mit.edu	37	19	10224798	10224798	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:10224798delT	ENST00000556468.1	+	13	1796	c.1769delT	c.(1768-1770)cgfs	p.L590fs	PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Frame_Shift_Del_p.L590fs|P2RY11_ENST00000321826.4_Frame_Shift_Del_p.L170fs					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TTCTCCCACCTGAAGAGGCCG	0.711													10	33	---	---	---	---					
AKT2	208	broad.mit.edu	37	19	40741920	40741920	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EE-A29D-06A-11D-A197-08	TCGA-EE-A29D-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533216ac-a18c-480a-aa80-e5710b2b4864	cba74885-548e-447f-b1b3-424cb4040252	g.chr19:40741920delT	ENST00000392038.2	-	11	1350	c.1052delA	c.(1051-1053)tcfs	p.Y351fs	AKT2_ENST00000424901.1_Frame_Shift_Del_p.Y351fs|AKT2_ENST00000311278.6_Frame_Shift_Del_p.Y308fs|AKT2_ENST00000579047.1_Frame_Shift_Del_p.Y289fs	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	351	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GTCCTGGTTGTAGAAGGGCAG	0.637			A		"""ovarian, pancreatic """								96	403	---	---	---	---					
