Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DECR1	1666	broad.mit.edu	37	8	91029366	91029366	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:91029366G>A	uc003yek.1	+	1	225	c.84G>A	c.(82-84)ggG>ggA	p.G28G	DECR1_uc011lgc.1_Silent_p.G19G|DECR1_uc011lgd.1_Intron	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	28					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGTTATGGGACAAAAATAT	0.279000														35			5		0	0	0.000602	0	0
DNM2	1785	broad.mit.edu	37	19	10930743	10930743	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:10930743G>A	uc002mpt.2	+	15	1949	c.1759G>A	c.(1759-1761)Gcc>Acc	p.A587T	DNM2_uc010dxk.2_Intron|DNM2_uc002mps.2_Missense_Mutation_p.A587T|DNM2_uc010dxl.2_Missense_Mutation_p.A587T|DNM2_uc002mpu.2_Missense_Mutation_p.A583T|DNM2_uc002mpv.2_Missense_Mutation_p.A583T|DNM2_uc002mpw.3_Missense_Mutation_p.A316T|MIR199A1_uc010xlj.1_5'Flank	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	587	PH.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	Golgi membrane|cell junction|cytosol|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			GCACGTCTTCGCCATCTTCAA	0.567000			"""F, N, Splice, Mis, O"""		ETP ALL									50			7		0	0	0.001984	0	0
SRSF3	6428	broad.mit.edu	37	6	36564672	36564672	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:36564672C>T	uc003omj.3	+	1	304	c.133C>T	c.(133-135)Cca>Tca	p.P45S	SRSF3_uc003omk.3_Non-coding_Transcript|SRSF3_uc011dtp.1_Missense_Mutation_p.P45S	NM_003017	NP_003008	P84103	SRSF3_HUMAN	Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.	45	RRM.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TGCTAGAAACCCACCCGGCTT	0.458000														93			11		0	0	0.008291	0	0
CCDC48	79825	broad.mit.edu	37	3	128758606	128758606	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:128758606C>T	uc011bkt.2	+	7	1712	c.1712C>T	c.(1711-1713)gCt>gTt	p.A571V		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	Homo sapiens coiled-coil domain containing 48 (CCDC48), mRNA.	571										breast(1)|kidney(2)|lung(2)|skin(1)	6						CAAGCCTTGGCTGCCTGCCAG	0.657000														56			11		0	0	0.010729	0	0
AGT	183	broad.mit.edu	37	1	230845971	230845971	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:230845971A>G	uc001hty.4	-	1	1134	c.626T>C	c.(625-627)gTg>gCg	p.V209A	AGT_uc009xff.3_Missense_Mutation_p.V181A	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	209					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GAACACGCCCACCACCGTGGA	0.647000														36			6		0	0	0.001168	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442137	103442137	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:103442137G>A	uc001ymi.1	-	10	1623	c.1391C>T	c.(1390-1392)tCc>tTc	p.S464F		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	464					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	p.E463Q(1)		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)		GGTCTGGGTGGACTCTGAGGG	0.602000														155			15		0	0	0.006122	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966723	23966723	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:23966723G>A	uc002wts.3	-	2	427	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GGTLC1_uc002wtu.3_Silent_p.F98F|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	98							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CTGGCTGGATGAAATTGGCAG	0.612000														70			16		0	0	0.004007	0	0
SASH3	54440	broad.mit.edu	37	X	128914113	128914113	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:128914113C>T	uc004euu.3	+	0	222	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_018990	NP_061863	O75995	SASH3_HUMAN	Homo sapiens SAM and SH3 domain containing 3 (SASH3), mRNA.	14										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						TGAGAAGGAGCCCACTCAGAA	0.557000														20			3		0	0	0.000602	0	0
KLHL1	57626	broad.mit.edu	37	13	70314559	70314559	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr13:70314559C>T	uc001vip.3	-	7	2563	c.1769G>A	c.(1768-1770)cGg>cAg	p.R590Q	KLHL1_uc010thm.2_Missense_Mutation_p.R529Q	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	590					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)		AACTGTGCTCCGAGCAATTGA	0.378000														20			4		0	0	0.009096	0	0
PRAMEF2	65122	broad.mit.edu	37	1	12921089	12921089	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:12921089C>T	uc001aum.1	+	3	967	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	294								p.P294T(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCAGAACCCCTTGGAGAA	0.458000														103			18		0	0	0.006122	0	0
DNAH10	196385	broad.mit.edu	37	12	124401078	124401078	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:124401078C>T	uc001uft.4	+	61	10468	c.10443C>T	c.(10441-10443)ttC>ttT	p.F3481F		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3481	AAA 5 (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)		CTTTCCTGTTCCGCGATGTTG	0.463000														81			6		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9076839	9076839	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:9076839G>A	uc002mkp.3	-	2	10811	c.10607C>T	c.(10606-10608)cCa>cTa	p.P3536L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P3536L(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAGATACCTGGAGTAGGAGC	0.537000														119			6		0	0	0.003080	0	0
PADI2	11240	broad.mit.edu	37	1	17395641	17395641	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:17395641G>A	uc001baf.3	-	15	1978	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	PADI2_uc010ocm.2_Silent_p.I516I	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	632					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.F631F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AAATGTCGTCGATGAAGGTGC	0.597000														86			19		0	0	0.014323	0	0
APOB	338	broad.mit.edu	37	2	21229951	21229951	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:21229951G>A	uc002red.3	-	25	9917	c.9789C>T	c.(9787-9789)ttC>ttT	p.F3263F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3263					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)	TCTCTATGGTGAATGGAGACA	0.458000														240			67		0	0	0.014410	0	0
SEMA5B	54437	broad.mit.edu	37	3	122634365	122634365	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:122634365C>T	uc003efz.1	-	13	2214	c.1910G>A	c.(1909-1911)cGa>cAa	p.R637Q	SEMA5B_uc011bju.1_Missense_Mutation_p.R579Q|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.R637Q|SEMA5B_uc010hro.1_Missense_Mutation_p.R579Q	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	637					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)		ATCACAGGATCGAGCTCGACA	0.607000														39			5		0	0	0.000602	0	0
OR10H3	26532	broad.mit.edu	37	19	15852520	15852520	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:15852520C>T	uc010xoq.2	+	0	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCTTCTCCTTCATGTTTGGCT	0.502000														188			35		0	0	0.003271	0	0
MYH2	4620	broad.mit.edu	37	17	10436609	10436609	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:10436609C>T	uc010coi.3	-	20	2562	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.E812K|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	812	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACCTTCTCTCCACCATCCTC	0.433000														54			4		0	0	0.009096	0	0
PCLO	27445	broad.mit.edu	37	7	82784272	82784272	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:82784272C>T	uc003uhx.2	-	1	1974	c.1685G>A	c.(1684-1686)gGa>gAa	p.G562E	PCLO_uc003uhv.2_Missense_Mutation_p.G562E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	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						TTTTCCAGATCCTGTTTGGCT	0.522000														356			78		0	0	0.014410	0	0
CD163	9332	broad.mit.edu	37	12	7635321	7635321	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:7635321C>T	uc001qsz.3	-	13	3293	c.3165G>A	c.(3163-3165)ggG>ggA	p.G1055G	CD163_uc001qta.3_Silent_p.G1055G|CD163_uc009zfw.2_Silent_p.G1088G	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1055					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						CCCCAAGGATCCCGACTGCAA	0.428000														49			16		0	0	0.003163	0	0
LOC146880	146880	broad.mit.edu	37	17	62750560	62750560	+	RNA	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:62750560G>A	uc010wqc.2	-	8		c.2054C>T								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		CGCTGACAAGGAATGGGACTA	0.403000														149			36		0	0	0.005524	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985569	142985569	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:142985569G>T	uc003evn.3	-	15	2122	c.1913C>A	c.(1912-1914)aCt>aAt	p.T638N		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	638					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTGACCCAAAGTTTGCTCAAG	0.473000														75			5		3.59834e-05	5.17869e-05	0.001168	1	0
NCKAP1L	3071	broad.mit.edu	37	12	54911350	54911350	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:54911350C>T	uc001sgc.4	+	11	1208	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	NCKAP1L_uc010sox.2_5'UTR|NCKAP1L_uc010soy.2_Missense_Mutation_p.R327C	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	377					B cell homeostasis|B cell receptor signaling pathway|T cell homeostasis|actin polymerization-dependent cell motility|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of T cell proliferation|positive regulation of actin filament polymerization|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|protein complex assembly|response to drug	SCAR complex|cytosol|integral to plasma membrane|membrane fraction	Rac GTPase activator activity|protein complex binding|protein kinase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GTCCTTCATTCGTGATGAGGT	0.438000														48			7		0	0	0.006214	0	0
MYH2	4620	broad.mit.edu	37	17	10433034	10433034	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:10433034C>T	uc010coi.3	-	23	3092	c.2964G>A	c.(2962-2964)atG>atA	p.M988I	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.M988I|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	988					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCAGACCTGCCATCTCTTCTG	0.498000														105			20		0	0	0.003954	0	0
HIPK2	28996	broad.mit.edu	37	7	139416420	139416420	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:139416420G>A	uc003vvf.4	-	1	685	c.414C>T	c.(412-414)atC>atT	p.I138I	HIPK2_uc003vvd.4_Silent_p.I138I	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	138	Transcriptional corepression (By similarity).				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|SMAD protein signal transduction|apoptosis|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent|virus-host interaction	PML body|centrosome|nuclear membrane	ATP binding|SMAD binding|protein serine/threonine kinase activity|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					TTGTGTTCTCGATCTCCTCGC	0.547000														40			11		0	0	0.010729	0	0
PLCXD2	257068	broad.mit.edu	37	3	111426861	111426861	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:111426861C>T	uc003dya.3	+	1	822	c.252C>T	c.(250-252)atC>atT	p.I84I	PLCXD2_uc003dxz.3_Silent_p.I84I	NM_001185106	NP_001172035	Q0VAA5	PLCX2_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 2 (PLCXD2), transcript variant 1, mRNA.	84	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						TCGCCAGGATCTCCTTGGTGA	0.507000														30			5		0	0	0.000602	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730873	140730873	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:140730873C>T	uc003ljo.2	+	0	1046	c.1046C>T	c.(1045-1047)tCt>tTt	p.S349F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.S349F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	356	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTCCTTCTCTAACCAGATT	0.438000														12			7		0	0	0.001984	0	0
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:30936168G>A	uc002nsu.1	+	1	1837	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M	ZNF536_uc010edd.1_Missense_Mutation_p.V567M	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V567M(4)		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)					GCGGGAGTACGTGTTAGTGGG	0.532000														74			10		0	0	0.008291	0	0
WDR36	134430	broad.mit.edu	37	5	110428092	110428092	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:110428092A>G	uc003kpd.3	+	0	223	c.106A>G	c.(106-108)Aag>Gag	p.K36E	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	36					rRNA processing|response to stimulus|visual perception	small-subunit processome		p.K36*(2)		cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AGACACGCTGAAGGGACTGGG	0.627000														75			4		0	0	0.009096	0	0
ESYT1	23344	broad.mit.edu	37	12	56536866	56536866	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:56536866A>G	uc001sjr.3	+	27	3201	c.3083A>G	c.(3082-3084)aAg>aGg	p.K1028R	ESYT1_uc001sjq.3_Missense_Mutation_p.K1018R	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	1018	C2 5.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGCCAGACAAGAACCGAGGC	0.512000														67			11		0	0	0.008291	0	0
CDSN	1041	broad.mit.edu	37	6	31084379	31084379	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:31084379G>A	uc003nsm.2	-	1	1069	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	PSORS1C1_uc003nsl.2_Intron|PSORS1C1_uc010jsj.2_Intron	NM_001264	NP_001255	Q15517	CDSN_HUMAN	Homo sapiens corneodesmosin (CDSN), mRNA.	338	Ser-rich.				cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						AGCTGCAAAGGAAGGGACCCC	0.552000														43			11		0	0	0.002450	0	0
ZNF563	147837	broad.mit.edu	37	19	12430489	12430489	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:12430489G>A	uc002mtp.3	-	3	588	c.350C>T	c.(349-351)tCc>tTc	p.S117F	ZNF563_uc002mtq.2_Missense_Mutation_p.S117F	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCTATTAAGGGATAAATGACC	0.418000														91			15		0	0	0.003163	0	0
MLL	4297	broad.mit.edu	37	11	118343772	118343772	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:118343772C>T	uc001pta.3	+	2	1921	c.1898C>T	c.(1897-1899)tCc>tTc	p.S633F	MLL_uc001ptb.3_Missense_Mutation_p.S633F|MLL_uc001psz.1_Missense_Mutation_p.S666F|MLL_uc001ptd.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	633					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAATACTTTTCCTCAGCAAAG	0.443000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									47			15		0	0	0.002450	0	0
DEPTOR	64798	broad.mit.edu	37	8	121061853	121061853	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:121061853C>T	uc003yow.4	+	8	1327	c.1140C>T	c.(1138-1140)gtC>gtT	p.V380V	DEPTOR_uc011lid.2_Silent_p.V279V	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	Homo sapiens DEP domain containing MTOR-interacting protein (DEPTOR), mRNA.	380	PDZ.				intracellular signal transduction|negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|regulation of apoptosis	intracellular	protein binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						GGCTCAATGTCCTGCATGTAG	0.493000														75			21		0	0	0.014323	0	0
HIST1H4B	8366	broad.mit.edu	37	6	26027399	26027399	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:26027399G>T	uc003nfr.3	-	0	82	c.82C>A	c.(82-84)Caa>Aaa	p.Q28K		NM_003544	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4b (HIST1H4B), mRNA.	28					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.Q28E(2)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						GTGATGCCTTGGATGTTATCC	0.542000														57			9		3.09899e-07	4.50569e-07	0.004482	1	0
NRK	203447	broad.mit.edu	37	X	105142616	105142616	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:105142616G>A	uc004emd.3	+	7	923	c.620G>A	c.(619-621)gGa>gAa	p.G207E	NRK_uc010npc.1_5'UTR	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	207	Protein kinase.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AGAACTAATGGAAGAAGGAAT	0.403000										HNSCC(51;0.14)				7			7		0	0	0.001984	0	0
PAK7	57144	broad.mit.edu	37	20	9624918	9624918	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:9624918C>T	uc002wnl.2	-	3	604	c.59G>A	c.(58-60)aGg>aAg	p.R20K	PAK7_uc002wnk.2_Missense_Mutation_p.R20K|PAK7_uc002wnj.2_Missense_Mutation_p.R20K|PAK7_uc010gby.1_Missense_Mutation_p.R20K	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	20	CRIB.						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)			AGTATGAACCCTGTGTTCAAA	0.468000														40			8		0	0	0.006214	0	0
EXOC3	11336	broad.mit.edu	37	5	446415	446415	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:446415A>T	uc003jba.3	+	1	223	c.95A>T	c.(94-96)tAt>tTt	p.Y32F		NM_007277	NP_009208	O60645	EXOC3_HUMAN	Homo sapiens exocyst complex component 3 (EXOC3), mRNA.	43					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)			GTGGAGCAGTATCGCAGGAGA	0.612000														47			6		0	0	0.001168	0	0
LOC442459	442459	broad.mit.edu	37	X	98974955	98974955	+	RNA	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:98974955C>T	uc011mrd.1	-	7		c.1388G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		GGGGGATGTTCCTGCGGGGTG	0.502000														41			4		0	0	0.009096	0	0
DMBT1	1755	broad.mit.edu	37	10	124399744	124399744	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:124399744C>T	uc001lgk.1	+	51	6850	c.6744C>T	c.(6742-6744)gtC>gtT	p.V2248V	DMBT1_uc001lgl.1_Silent_p.V2238V|DMBT1_uc001lgm.1_Silent_p.V1620V|DMBT1_uc021qaf.1_Silent_p.V2248V|DMBT1_uc021qag.1_Silent_p.V2238V|DMBT1_uc021qah.1_Silent_p.V1620V|DMBT1_uc009xzz.1_Silent_p.V2247V|DMBT1_uc010qtx.1_Silent_p.V968V|DMBT1_uc009yab.1_Silent_p.V951V|DMBT1_uc009yac.1_Silent_p.V542V	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2248	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.V2248V(3)|p.V2377V(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGAGGAAGTCCAGTATGGCA	0.473000														126			13		0	0	0.007413	0	0
TSPYL2	64061	broad.mit.edu	37	X	53114505	53114505	+	Splice_Site	SNP	T	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:53114505T>G	uc004drw.3	+	5	1377	c.1238_splice	c.e5+2	p.R413_splice	TSPYL2_uc004drv.3_3'UTR|TSPYL2_uc004drx.1_5'UTR	NM_022117	NP_071400	Q9H2G4	TSYL2_HUMAN	Homo sapiens TSPY-like 2 (TSPYL2), mRNA.	413					cell cycle|chromatin modification|negative regulation of DNA replication|negative regulation of cell cycle|negative regulation of cell growth|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GAAGAAACGGTAATGGGAGTT	0.443000														36			6		0	0	0.001984	0	0
NPIPL1	440350	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	G	G	rs1794256	by1000genomes	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:28354353T>G	uc010vcr.2	-	6	1539	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPL1_uc010vcq.2_Missense_Mutation_p.T267P					SubName: Full=Uncharacterized protein;									p.T285P(4)		lung(1)	1						AGACACTCAGTAGGTGTCTTG	0.507000														21			3		0	0	0.009096	0	0
CHD7	55636	broad.mit.edu	37	8	61743013	61743013	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:61743013C>T	uc003xue.3	+	14	4147	c.3655C>T	c.(3655-3657)Cga>Tga	p.R1219*	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1219					T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity	p.R1219R(3)		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)			GAAATATTACCGAGCCATCCT	0.398000														99			8		0	0	0.003080	0	0
COL27A1	85301	broad.mit.edu	37	9	116967419	116967419	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:116967419G>A	uc011lxl.2	+	7	2162	c.2162G>A	c.(2161-2163)gGa>gAa	p.G721E	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc010mvd.2_Intron	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	721	Collagen-like 2.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGGCACCCCGGAGAACAGGTG	0.647000														33			6		0	0	0.001984	0	0
FAM47A	158724	broad.mit.edu	37	X	34148281	34148281	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:34148281C>T	uc004ddg.3	-	0	2167	c.2115G>A	c.(2113-2115)tgG>tgA	p.W705*		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	705										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTAGCTTTTTCCACAACTTAG	0.433000														63			11		0	0	0.010729	0	0
FAM20B	9917	broad.mit.edu	37	1	179041234	179041234	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:179041234G>A	uc001gmc.3	+	7	1478	c.1185G>A	c.(1183-1185)atG>atA	p.M395I		NM_014864	NP_055679	O75063	XYLK_HUMAN	Homo sapiens family with sequence similarity 20, member B (FAM20B), mRNA.	395						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						AGTTTGGGATGGACACAGTAC	0.507000														24			7		0	0	0.001984	0	0
RREB1	6239	broad.mit.edu	37	6	7230144	7230144	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:7230144C>T	uc003mxb.3	+	9	2304	c.1812C>T	c.(1810-1812)gcC>gcT	p.A604A	RREB1_uc021yky.1_Silent_p.A604A|RREB1_uc003mxc.3_Silent_p.A604A|RREB1_uc010jnx.3_Silent_p.A604A|RREB1_uc021ykz.1_Silent_p.A604A|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	604					Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.E603*(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				TCATCGAGGCCCTGCTGCCGC	0.677000														20			10		0	0	0.006214	0	0
TTF2	8458	broad.mit.edu	37	1	117635466	117635466	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:117635466C>T	uc001egy.3	+	17	2939	c.2919C>T	c.(2917-2919)tcC>tcT	p.S973S	MIR942_uc021osm.1_5'Flank	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	973					RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CCACTGTTTCCCTTAACGGCA	0.488000														58			12		0	0	0.013537	0	0
DNAJB5	25822	broad.mit.edu	37	9	34993368	34993368	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:34993368G>A	uc011los.2	+	1	715	c.354G>A	c.(352-354)aaG>aaA	p.K118K	DNAJB5_uc003zvs.3_Silent_p.K80K|DNAJB5_uc003zvt.3_Silent_p.K46K	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	46					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAAGTTTAAGGAGATTGCAG	0.527000														134			18		0	0	0.004990	0	0
ITK	3702	broad.mit.edu	37	5	156665145	156665145	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:156665145G>A	uc003lwo.1	+	8	877	c.795G>A	c.(793-795)agG>agA	p.R265R		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	265	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R265K(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCATGGTAAGGGATTCCAGGA	0.468000			T	SYK	peripheral T-cell lymphoma									345			52		0	0	0.014410	0	0
TRH	7200	broad.mit.edu	37	3	129695631	129695631	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:129695631G>A	uc003enc.3	+	2	862	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	101					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						tgaagaagaggaagaggaaga	0.567000														39			5		0	0	0.001168	0	0
THBS4	7060	broad.mit.edu	37	5	79351609	79351609	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:79351609C>T	uc021yaw.1	+	3	484	c.293_splice	c.e3-1	p.A98_splice		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	98	TSP N-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)		TGCTTCCAGCCATCCTCCGTT	0.537000														218			54		0	0	0.014410	0	0
NLRP13	126204	broad.mit.edu	37	19	56419221	56419221	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:56419221C>T	uc010ygg.2	-	6	2409	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	795							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)		GACAGTCATTCCCAGCTTGTT	0.488000														78			9		0	0	0.004482	0	0
GPR112	139378	broad.mit.edu	37	X	135431958	135431958	+	Silent	SNP	T	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:135431958T>C	uc004ezu.1	+	5	6384	c.6093T>C	c.(6091-6093)acT>acC	p.T2031T	GPR112_uc010nsb.1_Silent_p.T1826T|GPR112_uc010nsc.1_Silent_p.T1798T	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2031					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)					ATGTTATGACTTCCTCTACAG	0.443000														56			14		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140221951	140221951	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:140221951G>A	uc003lhs.2	+	0	1045	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.E349K	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	364	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)			TAACGTCCCTGAGATAGCACT	0.468000														82			11		0	0	0.006122	0	0
MED12	9968	broad.mit.edu	37	X	70348270	70348270	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:70348270G>A	uc004dyy.3	+	22	3533	c.3334G>A	c.(3334-3336)Gat>Aat	p.D1112N	MED12_uc011mpq.1_Missense_Mutation_p.D1112N|MED12_uc004dyz.3_Missense_Mutation_p.D1112N|MED12_uc004dza.3_Missense_Mutation_p.D959N|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1112					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	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor 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)					TGGTTTCAACGATCTCCTCTG	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							141			7		0	0	0.003080	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103404651	103404651	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:103404651G>A	uc001ymi.1	-	34	5157	c.4925C>T	c.(4924-4926)cCc>cTc	p.P1642L		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1642					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)		ACCTGATGAGGGCCACGAGAT	0.667000														91			7		0	0	0.003080	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					43			13		0	0	0.001855	0	0
GBA3	57733	broad.mit.edu	37	4	22737622	22737622	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:22737622G>A	uc003gqp.4	+	1	168	c.77G>A	c.(76-78)gGa>gAa	p.G26E	GBA3_uc010iep.3_Missense_Mutation_p.G26E|GBA3_uc011bxo.2_Missense_Mutation_p.G27E	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	26					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GATGCAGATGGAAAAGGCCCT	0.443000														20			5		0	0	0.000602	0	0
B3GNT3	10331	broad.mit.edu	37	19	17919051	17919051	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:17919051C>T	uc002nhl.1	+	1	582	c.435C>T	c.(433-435)ttC>ttT	p.F145F	B3GNT3_uc010ebd.1_Silent_p.F145F|B3GNT3_uc010ebe.1_Silent_p.F145F	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	145					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCCTCCTCTTCCTGGTGGGCA	0.662000														30			8		0	0	0.003080	0	0
DPP10	57628	broad.mit.edu	37	2	116572408	116572408	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:116572408C>T	uc002tle.3	+	19	1773	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	DPP10_uc002tla.2_Silent_p.F580F|DPP10_uc002tlb.2_Silent_p.F530F|DPP10_uc002tlc.2_Silent_p.F576F|DPP10_uc002tlf.2_Silent_p.F573F	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	580					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CAGATAAGTTCCATATTGACT	0.413000														54			4		0	0	0.009096	0	0
C11orf9	745	broad.mit.edu	37	11	61550977	61550977	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:61550977C>T	uc001nsc.1	+	22	3120	c.3024C>T	c.(3022-3024)ctC>ctT	p.L1008L	C11orf9_uc001nse.1_Intron|C11orf9_uc010rll.1_Intron|C11orf9_uc021qkh.1_5'Flank	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	1008					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						CAGCCTCTCTCCTTGCAGAGC	0.562000														115			8		0	0	0.003080	0	0
LGR6	59352	broad.mit.edu	37	1	202287116	202287116	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:202287116G>A	uc001gxu.3	+	17	1685	c.1685G>A	c.(1684-1686)tGg>tAg	p.W562*	LGR6_uc001gxv.3_Nonsense_Mutation_p.W510*|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Nonsense_Mutation_p.W423*	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	562						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TTTGAAAGCTGGGGCATCCGC	0.617000														77			12		0	0	0.001855	0	0
abParts	0	broad.mit.edu	37	14	106518634	106518634	+	RNA	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:106518634G>A	uc021ser.1	-	2195		c.39319C>T								Parts of antibodies, mostly variable regions.																		CTGCACAGGAGAGTCTCAGGG	0.582000														68			7		0	0	0.001984	0	0
LAMA2	3908	broad.mit.edu	37	6	129571261	129571261	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:129571261C>T	uc021zfb.1	+	12	1892	c.1787C>T	c.(1786-1788)cCa>cTa	p.P596L	LAMA2_uc003qbn.3_Missense_Mutation_p.P596L|LAMA2_uc003qbo.3_Missense_Mutation_p.P596L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	596	Laminin IV type A 1.				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)		TTGTAGCTCCCAGCAGTAGGA	0.363000														47			5		0	0	0.001168	0	0
TRIML1	339976	broad.mit.edu	37	4	189068515	189068515	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:189068515A>T	uc003izm.1	+	5	1511	c.1396A>T	c.(1396-1398)Agc>Tgc	p.S466C	TRIML1_uc003izn.1_Missense_Mutation_p.S190C	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	466	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CTCACTGAACAGCCACGTCTG	0.552000														36			7		0	0	0.001984	0	0
KDR	3791	broad.mit.edu	37	4	55974004	55974004	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:55974004C>G	uc003has.3	-	9	1614	c.1312G>C	c.(1312-1314)Ggc>Cgc	p.G438R	KDR_uc003hat.1_Missense_Mutation_p.G438R|KDR_uc011bzx.2_Missense_Mutation_p.G438R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	438	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGTGGTGCCGTACTGGTAG	0.502000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				64			5		0	0	0.001984	0	0
SLC12A8	84561	broad.mit.edu	37	3	124826579	124826579	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:124826579C>T	uc003ehw.4	-	9	1608	c.1538G>A	c.(1537-1539)aGg>aAg	p.R513K	SLC12A8_uc003ehv.4_Missense_Mutation_p.R484K|SLC12A8_uc003eht.4_Missense_Mutation_p.R285K|SLC12A8_uc010hry.3_Missense_Mutation_p.R237K	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	484					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TTCTGGGGTCCTGTTACCCTC	0.532000														80			12		0	0	0.013537	0	0
PEX7	5191	broad.mit.edu	37	6	137193340	137193340	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:137193340C>T	uc003qhd.3	+	7	854	c.752C>T	c.(751-753)tCa>tTa	p.S251L	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	251					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTGTAGTTTTCACCATTTCAT	0.303000														92			10		0	0	0.010729	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129040065	129040065	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:129040065G>A	uc003kvb.1	+	20	3275	c.3275G>A	c.(3274-3276)cGa>cAa	p.R1092Q	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1092	TSP type-1 5.				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)		TATGTGTGGCGAATGGGTGAC	0.453000														44			9		0	0	0.006214	0	0
EP400	57634	broad.mit.edu	37	12	132551950	132551950	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:132551950G>A	uc001ujn.3	+	49	8945	c.8793G>A	c.(8791-8793)ctG>ctA	p.L2931L	EP400_uc021rgq.1_Silent_p.L2930L|EP400_uc001ujm.3_Silent_p.L2850L|EP400_uc001ujp.3_Silent_p.L141L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2967					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCAGCTGCTGAAGCTGAAGC	0.642000														73			9		0	0	0.004482	0	0
RIMS1	22999	broad.mit.edu	37	6	72806812	72806812	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:72806812C>T	uc003pga.3	+	2	483	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C		NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	136	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding	p.R136H(1)|p.C135F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CTCCTATTGTCGCACTAAGTT	0.512000														48			18		0	0	0.004990	0	0
CYYR1	116159	broad.mit.edu	37	21	27840924	27840924	+	Missense_Mutation	SNP	C	T	T	rs140249086	by1000genomes	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:27840924C>T	uc002yme.3	-	3	686	c.364G>A	c.(364-366)Gag>Aag	p.E122K	CYYR1_uc002ymd.3_Missense_Mutation_p.E121K|CYYR1_uc011ack.2_Non-coding_Transcript	NM_052954	NP_443186	Q96J86	CYYR1_HUMAN	Homo sapiens cysteine/tyrosine-rich 1 (CYYR1), mRNA.	121						integral to membrane		p.E121K(2)		large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TATTCCATCTCGTGGTCGTGA	0.522000														36			18		0	0	0.010504	0	0
NEU1	4758	broad.mit.edu	37	6	31827574	31827574	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:31827574G>A	uc003nxq.4	-	5	1326	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	390						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CATACAGGACGTAGAGCTGGG	0.587000														633			41		0	0	0.009718	0	0
COL6A3	1293	broad.mit.edu	37	2	238280938	238280938	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:238280938G>A	uc002vwl.2	-	8	4007	c.3722C>T	c.(3721-3723)tCc>tTc	p.S1241F	COL6A3_uc002vwo.2_Missense_Mutation_p.S1035F|COL6A3_uc010znj.1_Missense_Mutation_p.S634F|COL6A3_uc002vwq.3_Missense_Mutation_p.S1035F|COL6A3_uc002vwr.3_Missense_Mutation_p.S834F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1241	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCACTTTGGGACCCATCGAT	0.547000														35			11		0	0	0.010729	0	0
ATP2B3	492	broad.mit.edu	37	X	152818565	152818565	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:152818565G>A	uc004fht.1	+	10	2022	c.1896G>A	c.(1894-1896)agG>agA	p.R632R	ATP2B3_uc004fhs.1_Silent_p.R632R	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	632					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATGGTGAGGAAGATCATCG	0.617000														37			5		0	0	0.001168	0	0
GTF3C2	2976	broad.mit.edu	37	2	27565723	27565723	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:27565723C>T	uc002rju.1	-	2	969	c.572G>A	c.(571-573)gGg>gAg	p.G191E	GTF3C2_uc002rjv.1_Missense_Mutation_p.G180E|GTF3C2_uc002rjw.1_Missense_Mutation_p.G180E|GTF3C2_uc010eyz.2_Missense_Mutation_p.G180E	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	180						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTCGTTCCCCAGAAGGGGT	0.577000														74			10		0	0	0.013537	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996272	140996272	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:140996272G>A	uc004fbt.3	+	3	3406	c.3082G>A	c.(3082-3084)Gtg>Atg	p.V1028M	MAGEC1_uc010nsl.2_Missense_Mutation_p.V95M|MAGEC1_uc022cfi.1_Missense_Mutation_p.V687M	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	1028	MAGE.						protein binding	p.G1027A(1)		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)					TGGAATAGGGGTGCGTGCTGG	0.542000										HNSCC(15;0.026)				90			8		0	0	0.003080	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142180696	142180696	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142180696G>A	uc011krz.2	-	1	212	c.163C>T	c.(163-165)Cga>Tga	p.R55*	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Nonsense_Mutation_p.R55*|BV13S6J2.1_uc022anl.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		GGGTCTTGTCGATACCAGGAC	0.507000														431			35		0	0	0.004289	0	0
ZNF160	90338	broad.mit.edu	37	19	53572368	53572368	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:53572368G>A	uc010eqk.3	-	6	1835	c.1419C>T	c.(1417-1419)gtC>gtT	p.V473V	ZNF160_uc002qaq.4_Silent_p.V473V|ZNF160_uc002qar.4_Silent_p.V473V	NM_001102603	NP_942596	Q9HCG1	ZN160_HUMAN	Homo sapiens zinc finger protein 160 (ZNF160), transcript variant 3, mRNA.	473					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)		CAGTATGGATGACCTGATGGG	0.408000														78			13		0	0	0.001855	0	0
CEL	1056	broad.mit.edu	37	9	135940463	135940463	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:135940463G>A	uc010naa.1	+	3	402	c.386G>A	c.(385-387)gGa>gAa	p.G129E		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	126					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGATCTATGGAGGCGCCTTC	0.647000														284			53		0	0	0.014410	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769554	140769554	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:140769554C>T	uc003lkc.2	+	0	2103	c.2103C>T	c.(2101-2103)ttC>ttT	p.F701F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	705					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCTCTTCCTCGTGGCCA	0.602000														159			9		0	0	0.004482	0	0
MORC4	79710	broad.mit.edu	37	X	106198237	106198237	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:106198237G>A	uc004emu.4	-	13	1866	c.1591C>T	c.(1591-1593)Cat>Tat	p.H531Y	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.H531Y|MORC4_uc004emw.4_Missense_Mutation_p.H279Y	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	531							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTAGGGCTATGAATTCCCTCA	0.398000														91			10		0	0	0.008291	0	0
ADPRH	141	broad.mit.edu	37	3	119305195	119305195	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:119305195C>T	uc003ecs.3	+	3	660	c.362C>T	c.(361-363)cCc>cTc	p.P121L	ADPRH_uc010hqv.3_Missense_Mutation_p.P121L|ADPRH_uc011bjb.2_Missense_Mutation_p.P14L|ADPRH_uc003ect.3_Missense_Mutation_p.P121L	NM_001125	NP_001116	P54922	ADPRH_HUMAN	Homo sapiens ADP-ribosylarginine hydrolase (ADPRH), mRNA.	121					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.P121L(2)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TGGAGGATTCCCTTCAACAGC	0.602000														92			14		0	0	0.003163	0	0
CCDC132	55610	broad.mit.edu	37	7	92861654	92861654	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:92861654G>A	uc003umo.3	+	1	1	c.-127_splice	c.e1-1		CCDC132_uc003ump.3_Splice_Site|CCDC132_uc003umr.3_Splice_Site|CCDC132_uc011khz.2_Splice_Site|CCDC132_uc003umn.3_Splice_Site	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.											endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GGGAAAGACAGGATACCCTGG	0.572000														9			4		0	0	0.009096	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22830847	22830848	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:22830847_22830848GG>AA	uc001irl.4	-	7	1169_1170	c.921_922CC>TT	c.(919-924)acccac>acTTac	p.H308Y	PIP4K2A_uc010qcu.2_Missense_Mutation_p.H168Y	NM_005028	NP_005019	P48426	PI42A_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, alpha (PIP4K2A), mRNA.	308	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						CCCACCGGGTGGGTGCCATCGC	0.599000														48			6		0	0	0.004672	0	0
MRPL43	84545	broad.mit.edu	37	10	102746603	102746603	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:102746603T>C	uc010qpu.1	-	2	440	c.368A>G	c.(367-369)aAc>aGc	p.N123S	MRPL43_uc001kry.1_Missense_Mutation_p.N123S|MRPL43_uc001krz.1_Intron|MRPL43_uc001ksa.1_Missense_Mutation_p.N123S|MRPL43_uc001ksb.1_Missense_Mutation_p.N123S|MRPL43_uc001ksc.3_Missense_Mutation_p.N123S|MRPL43_uc001ksd.1_Missense_Mutation_p.N123S|C10orf2_uc001ksf.2_5'Flank|C10orf2_uc010qpv.1_5'Flank|C10orf2_uc001ksg.2_5'Flank|C10orf2_uc001ksi.2_5'Flank|C10orf2_uc021pxb.1_5'Flank	NM_032112	NP_115488	Q8N983	RM43_HUMAN	Homo sapiens mitochondrial ribosomal protein L43 (MRPL43), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	123					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GATGCTAGGGTTGTCGGTGTG	0.652000														29			3		0	0	0.000602	0	0
DNAH5	1767	broad.mit.edu	37	5	13766229	13766229	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:13766229G>A	uc003jfd.2	-	58	9999	c.9957C>T	c.(9955-9957)atC>atT	p.I3319I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3319	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)					TGATCCGCATGATGAGGTGAG	0.532000									Kartagener syndrome					115			17		0	0	0.004990	0	0
ZNF670	93474	broad.mit.edu	37	1	247202174	247202174	+	Splice_Site	SNP	T	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:247202174T>G	uc001icd.2	-	3	348	c.131_splice	c.e3-1	p.G44_splice	ZNF695_uc001ica.3_Intron|ZNF695_uc001icb.2_Intron|ZNF670_uc021plz.1_Splice_Site_p.G44_splice	NM_033213	NP_149990	Q9BS34	ZN670_HUMAN	Homo sapiens zinc finger protein 670 (ZNF670), transcript variant 1, mRNA.	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00427)			ATTTGTTTCCTAAAAGGTACA	0.333000														30			4		0	0	0.009096	0	0
JAM2	58494	broad.mit.edu	37	21	27071113	27071113	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:27071113C>T	uc002ylp.1	+	4	1064	c.519C>T	c.(517-519)atC>atT	p.I173I	JAM2_uc011ace.1_Silent_p.I173I|JAM2_uc002ylq.1_Non-coding_Transcript|JAM2_uc011acf.1_Silent_p.I137I	NM_021219	NP_067042	P57087	JAM2_HUMAN	Homo sapiens junctional adhesion molecule 2 (JAM2), mRNA.	173	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction		p.I173I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						AGGATGGCATCCGTTTGCTAG	0.438000														34			11		0	0	0.013537	0	0
KIAA1244	57221	broad.mit.edu	37	6	138634957	138634957	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:138634957C>T	uc003qhu.3	+	25	4397	c.4226C>T	c.(4225-4227)cCc>cTc	p.P1409L		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1409					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)		TACAAAATGCCCTTGAAGCCA	0.388000														25			4		0	0	0.001168	0	0
DSG3	1830	broad.mit.edu	37	18	29056200	29056200	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr18:29056200G>A	uc002kws.3	+	15	3086	c.2977G>A	c.(2977-2979)Gat>Aat	p.D993N	DSG3_uc002kwt.3_Missense_Mutation_p.D275N	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	993					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)			CTGTACAGAGGATCCTTGCTC	0.468000														76			13		0	0	0.002450	0	0
PDE7A	5150	broad.mit.edu	37	8	66631584	66631584	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:66631584T>C	uc003xvq.3	-	12	1616	c.1390A>G	c.(1390-1392)Act>Gct	p.T464A	PDE7A_uc003xvp.3_Missense_Mutation_p.T438A	NM_001242318	NP_001229247	Q13946	PDE7A_HUMAN	Homo sapiens phosphodiesterase 7A (PDE7A), transcript variant 3, mRNA.	464						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GCAGCATCAGTGTCCTCACTG	0.483000														43			8		0	0	0.004482	0	0
USH2A	7399	broad.mit.edu	37	1	215844631	215844631	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:215844631C>T	uc001hku.1	-	63	14203	c.13816G>A	c.(13816-13818)Gaa>Aaa	p.E4606K		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4606	Fibronectin type-III 31.				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)		ATTCGTATTTCATACCTTCAG	0.418000										HNSCC(13;0.011)				22			6		0	0	0.001168	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873824	48873824	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:48873824G>A	uc002rwp.2	+	7	2847	c.2733G>A	c.(2731-2733)agG>agA	p.R911R	STON1-GTF2A1L_uc021vhf.1_Silent_p.R911R|STON1-GTF2A1L_uc010yol.2_Silent_p.R864R|STON1-GTF2A1L_uc002rws.2_Silent_p.R207R|STON1-GTF2A1L_uc010yom.2_Silent_p.R173R	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	864					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)			CAGTAGATAGGAAACACTTAG	0.413000														39			6		0	0	0.001168	0	0
TRPS1	7227	broad.mit.edu	37	8	116427011	116427011	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:116427011T>A	uc003yny.3	-	6	3703	c.3125A>T	c.(3124-3126)cAc>cTc	p.H1042L	TRPS1_uc011lhy.2_Missense_Mutation_p.H1033L|TRPS1_uc003ynz.3_Missense_Mutation_p.H1029L|TRPS1_uc010mcy.3_Missense_Mutation_p.H1029L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1029	Mediates interaction with RNF4 (By similarity).				NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|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)			CATCCTTTTGTGAATATCCAG	0.448000									Langer-Giedion syndrome					61			5		0	0	0.000602	0	0
SPEF2	79925	broad.mit.edu	37	5	35691304	35691304	+	Silent	SNP	T	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:35691304T>C	uc003jjo.3	+	10	1801	c.1690T>C	c.(1690-1692)Tta>Cta	p.L564L	SPEF2_uc003jjq.4_Silent_p.L564L|SPEF2_uc003jjp.1_Silent_p.L55L	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	564					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)			TAAAGGATGCTTATTGGGGAA	0.398000														57			10		0	0	0.008291	0	0
AGGF1	55109	broad.mit.edu	37	5	76331408	76331408	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:76331408A>C	uc003ket.3	+	2	738	c.356A>C	c.(355-357)aAt>aCt	p.N119T	AGGF1_uc003kes.3_Missense_Mutation_p.N119T|AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	119					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|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)		AGTCTTCCAAATAAAGTGACT	0.303000														233			43		0	0	0.014410	0	0
GPC4	2239	broad.mit.edu	37	X	132445387	132445387	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:132445387C>G	uc004exc.1	-	3	988	c.776G>C	c.(775-777)gGt>gCt	p.G259A	GPC4_uc011mvg.1_Missense_Mutation_p.G189A	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	259					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					AGTCACGAGACCCCGGCAGTG	0.473000														103			9		0	0	0.004482	0	0
LRP6	4040	broad.mit.edu	37	12	12303966	12303966	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:12303966G>C	uc001rah.4	-	12	2940	c.2798C>G	c.(2797-2799)aCg>aGg	p.T933R	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.T933R	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	933	Beta-propeller 4.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity	p.P932S(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CAGGAAAGTCGTAGGAGCTTA	0.423000														224			6		0	0	0.001168	0	0
APOL4	80832	broad.mit.edu	37	22	36587781	36587781	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr22:36587781A>C	uc003aox.3	-	5	620	c.395T>G	c.(394-396)aTt>aGt	p.I132S	APOL4_uc003aow.3_Missense_Mutation_p.I129S|APOL4_uc010gww.3_5'UTR	NM_145660	NP_663693	Q9BPW4	APOL4_HUMAN	Homo sapiens apolipoprotein L, 4 (APOL4), transcript variant b, mRNA.	133					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GACCTTTTCAATCTCATTTGC	0.463000														43			6		0	0	0.001984	0	0
LRP5	4041	broad.mit.edu	37	11	68207324	68207324	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:68207324C>T	uc001ont.3	+	20	4503	c.4428C>T	c.(4426-4428)aaC>aaT	p.N1476N	LRP5_uc009ysg.3_Silent_p.N886N	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1476					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACGACCGGAACCACGTCACAG	0.731000														20			6		0	0	0.003080	0	0
STAG3	10734	broad.mit.edu	37	7	99786085	99786085	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:99786085C>T	uc003utx.1	+	5	598	c.443C>T	c.(442-444)aCc>aTc	p.T148I	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Intron	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	148					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCATTGTGACCCCTGAGATG	0.418000														282			37		0	0	0.008740	0	0
DNMT1	1786	broad.mit.edu	37	19	10254590	10254590	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:10254590G>A	uc002mng.3	-	27	3100	c.2920C>T	c.(2920-2922)Cgg>Tgg	p.R974W	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Missense_Mutation_p.R990W|DNMT1_uc002mnh.3_Missense_Mutation_p.R869W|DNMT1_uc010xld.2_Missense_Mutation_p.R974W	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	974	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GAGTATTTCCGGTAGTGCTCT	0.557000														145			4		0	0	0.009096	0	0
GFRA3	2676	broad.mit.edu	37	5	137589782	137589782	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:137589782G>A	uc003lcn.3	-	4	993	c.853C>T	c.(853-855)Cag>Tag	p.Q285*	GFRA3_uc003lco.3_Nonsense_Mutation_p.Q254*	NM_001496	NP_001487	O60609	GFRA3_HUMAN	Homo sapiens GDNF family receptor alpha 3 (GFRA3), mRNA.	285					peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATCTGGACTGCTCTGTTGCA	0.522000														57			8		0	0	0.006214	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	A	A	rs28392876	by1000genomes	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														10			3		0	0	0.009096	0	0
PAK7	57144	broad.mit.edu	37	20	9525129	9525129	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:9525129C>T	uc002wnl.2	-	8	2301	c.1756G>A	c.(1756-1758)Gat>Aat	p.D586N	PAK7_uc002wnk.2_Missense_Mutation_p.D586N|PAK7_uc002wnj.2_Missense_Mutation_p.D586N|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	586	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)			AAACCAAAATCAGACAACTTT	0.398000														46			7		0	0	0.001984	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654711	31654711	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:31654711A>C	uc002ynv.3	-	0	566	c.540T>G	c.(538-540)aaT>aaG	p.N180K		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	180						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGAAGCAAGGATTTTGGTAGC	0.398000														69			5		0	0	0.000602	0	0
DNAH3	55567	broad.mit.edu	37	16	20970677	20970677	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:20970677C>T	uc010vbe.2	-	53	10650	c.10650G>A	c.(10648-10650)caG>caA	p.Q3550Q	DNAH3_uc010vbd.2_Silent_p.Q985Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3550	AAA 6 (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)		GGGAGATGGTCTGTGTTCTGG	0.522000														109			12		0	0	0.013537	0	0
BUB1B	701	broad.mit.edu	37	15	40493133	40493133	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:40493133G>A	uc001zkx.4	+	12	1730	c.1518_splice	c.e12-1	p.R506_splice	BUB1B_uc010ucl.1_Splice_Site_p.R369_splice	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	506					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)		TCTTTACAGAGAAACTTCACT	0.328000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					47			24		0	0	0.008361	0	0
NWD1	284434	broad.mit.edu	37	19	16860799	16860799	+	Missense_Mutation	SNP	G	A	A	rs139108504		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:16860799G>A	uc002neu.4	+	5	1768	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	NWD1_uc002net.4_Missense_Mutation_p.R314Q|NWD1_uc002nev.4_Missense_Mutation_p.R243Q|NWD1_uc021uqg.1_Missense_Mutation_p.R314Q	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	449	NACHT.						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						CGCCATGCTCGGAGGGTTCCC	0.597000														59			17		0	0	0.007413	0	0
MUC2	4583	broad.mit.edu	37	11	1097804	1097804	+	Nonsense_Mutation	SNP	C	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:1097804C>A	uc001lsx.1	+	37	6912	c.6885C>A	c.(6883-6885)tgC>tgA	p.C2295*		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4661						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)	AGCCACACTGCCCCCACAGCA	0.667000														12			5		0.000602214	0.000858004	0.000602	1	0
CYP4F22	126410	broad.mit.edu	37	19	15658923	15658923	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:15658923G>A	uc002nbh.4	+	10	1308	c.1141G>A	c.(1141-1143)Gat>Aat	p.D381N		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	381						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CCCCAGGGACGATCTGACTCA	0.532000														90			20		0	0	0.003330	0	0
RAI2	10742	broad.mit.edu	37	X	17819691	17819691	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:17819691G>A	uc022btm.1	-	0	440	c.440C>T	c.(439-441)tCc>tTc	p.S147F	RAI2_uc004cyf.3_Missense_Mutation_p.S147F|RAI2_uc004cyg.3_Missense_Mutation_p.S147F|RAI2_uc011miy.2_Missense_Mutation_p.S97F|RAI2_uc022btl.1_Missense_Mutation_p.S147F|RAI2_uc004cyh.4_Missense_Mutation_p.S147F|RAI2_uc010nfa.3_Missense_Mutation_p.S147F	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	147					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGTACTGGAGGAGCATGGGGC	0.672000														93			10		0	0	0.006214	0	0
FTSJ3	117246	broad.mit.edu	37	17	61899393	61899393	+	Missense_Mutation	SNP	C	G	G	rs148527553		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:61899393C>G	uc002jbz.3	-	12	1504	c.1426G>C	c.(1426-1428)Gag>Cag	p.E476Q	FTSJ3_uc002jca.3_Missense_Mutation_p.E476Q	NM_017647	NP_060117	Q8IY81	RRMJ3_HUMAN	Homo sapiens FtsJ homolog 3 (E. coli) (FTSJ3), mRNA.	476					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCCAGCTCCTCTGGATCCAGG	0.527000														53			27		0	0	0.010818	0	0
PTPRR	5801	broad.mit.edu	37	12	71286690	71286690	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:71286690G>A	uc001swi.2	-	1	540	c.126C>T	c.(124-126)ttC>ttT	p.F42F		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	42					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.V41A(1)		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)		GCTTATAAATGAATACCGGCT	0.393000														65			5		0	0	0.000602	0	0
DNAH6	1768	broad.mit.edu	37	2	84784883	84784883	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:84784883C>T	uc010fgb.3	+	10	1764	c.1627C>T	c.(1627-1629)Cac>Tac	p.H543Y	DNAH6_uc002soo.3_Missense_Mutation_p.H122Y|DNAH6_uc002sop.3_Missense_Mutation_p.H122Y	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	543	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TGCAGTTAATCACTGTCAAAA	0.289000														95			13		0	0	0.003163	0	0
SEC31B	25956	broad.mit.edu	37	10	102249812	102249812	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:102249812G>A	uc001krc.1	-	20	3020	c.2918C>T	c.(2917-2919)cCa>cTa	p.P973L	SEC31B_uc010qpo.1_Missense_Mutation_p.P972L|SEC31B_uc001krd.1_Missense_Mutation_p.P510L|SEC31B_uc001krf.1_Intron|SEC31B_uc001kre.1_Intron	NM_015490	NP_056305	Q9NQW1	SC31B_HUMAN	Homo sapiens SEC31 homolog B (S. cerevisiae) (SEC31B), mRNA.	973	Pro-rich.				protein transport|vesicle-mediated transport	ER to Golgi transport vesicle membrane|endoplasmic reticulum membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		ACTAGAGCATGGGGCACCTGG	0.607000														53			12		0	0	0.002450	0	0
IGSF1	3547	broad.mit.edu	37	X	130416530	130416530	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:130416530G>A	uc004ewe.4	-	6	1417	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	IGSF1_uc004ewd.3_Silent_p.F378F|IGSF1_uc022cdv.1_Silent_p.F369F|IGSF1_uc004ewf.2_Silent_p.F358F	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	378	Ig-like C2-type 4.				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						CATTGTTGAGGAAGAATGATG	0.458000														44			18		0	0	0.006122	0	0
C1QTNF8	390664	broad.mit.edu	37	16	1144753	1144753	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:1144753G>A	uc010uuw.1	-	2	444	c.170C>T	c.(169-171)cCt>cTt	p.P57L		NM_207419	NP_997302	P60827	C1QT8_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 8 (C1QTNF8), mRNA.	57						collagen		p.P57L(2)		lung(2)|prostate(1)|skin(1)	4		Hepatocellular(780;0.00369)				CCGTACTCGAGGCAGCCCCCT	0.672000														44			10		0	0	0.010729	0	0
KCNH5	27133	broad.mit.edu	37	14	63453887	63453887	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:63453887C>T	uc001xfx.3	-	4	503	c.452G>A	c.(451-453)cGa>cAa	p.R151Q	KCNH5_uc001xfy.3_Missense_Mutation_p.R151Q|KCNH5_uc001xfz.1_Missense_Mutation_p.R93Q|KCNH5_uc001xga.3_Missense_Mutation_p.R93Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.A150T(1)		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)		CCGTGTCAATCGGGCAAATTT	0.378000														43			7		0	0	0.003080	0	0
HUWE1	10075	broad.mit.edu	37	X	53585694	53585694	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:53585694C>T	uc004dsp.3	-	58	8484	c.8082G>A	c.(8080-8082)agG>agA	p.R2694R	HUWE1_uc004dsn.3_Silent_p.R1518R|MIR98_uc004dsr.2_5'Flank|MIRLET7F2_uc004dss.2_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2694					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						CCAGTTGTTTCCTGCGCTTCT	0.463000														89			8		0	0	0.003080	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18956328	18956328	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:18956328C>A	uc001mpg.3	-	0	222	c.4G>T	c.(4-6)Gat>Tat	p.D2Y		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	2					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						ATGGTTGGATCCATGCTCAGA	0.517000														214			13		7.93312e-07	1.14949e-06	0.002450	1	0
ATP7A	538	broad.mit.edu	37	X	77264757	77264757	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:77264757T>G	uc004ecx.4	+	6	2026	c.1866T>G	c.(1864-1866)atT>atG	p.I622M	ATP7A_uc004ecw.2_Missense_Mutation_p.I622M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	622	HMA 6.				ATP biosynthetic process|T-helper cell differentiation|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|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						TCCATACAATTGAAGTAAGTG	0.383000														173			14		0	0	0.003163	0	0
AGBL1	123624	broad.mit.edu	37	15	86822934	86822934	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:86822934A>G	uc002blz.1	+	14	2082	c.2002A>G	c.(2002-2004)Acc>Gcc	p.T668A	AGBL1_uc002bma.1_Missense_Mutation_p.T399A|AGBL1_uc002bmb.1_Missense_Mutation_p.T362A	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	668					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						CTATACCCTCACCTTTGCTGT	0.488000														86			16		0	0	0.004007	0	0
CLK3	1198	broad.mit.edu	37	15	74919947	74919947	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:74919947A>G	uc010uln.2	+	8	1885	c.1424A>G	c.(1423-1425)gAc>gGc	p.D475G	CLK3_uc002ayg.4_Missense_Mutation_p.D327G|CLK3_uc002ayh.4_Missense_Mutation_p.D106G|CLK3_uc002ayj.4_Missense_Mutation_p.D304G|CLK3_uc002ayk.4_Missense_Mutation_p.D254G|CLK3_uc002ayl.4_Missense_Mutation_p.D160G	NM_001130028	NP_003983	P49761	CLK3_HUMAN	Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA.	475	Protein kinase.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						GCCACATTTGACCATGAGCAC	0.562000														121			7		0	0	0.001984	0	0
NOD2	64127	broad.mit.edu	37	16	50763802	50763802	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:50763802C>T	uc002egm.1	+	10	3145	c.3040C>T	c.(3040-3042)Ctg>Ttg	p.L1014L	NOD2_uc010vgq.1_Silent_p.L59L	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	1014					JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of Notch signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of gamma-delta T cell activation|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGACACCATCCTGGAAGTCTG	0.507000														41			4		0	0	0.009096	0	0
KCTD10	83892	broad.mit.edu	37	12	109895484	109895484	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:109895484C>T	uc001toj.1	-	4	2218	c.505G>A	c.(505-507)Gcc>Acc	p.A169T	KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.A157T|KCTD10_uc001toi.1_Missense_Mutation_p.A160T|KCTD10_uc001tok.1_5'UTR	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	160					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						AACTTCACGGCTGGCTGTGGG	0.478000														36			5		0	0	0.001168	0	0
OR13A1	79290	broad.mit.edu	37	10	45799336	45799336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:45799336C>T	uc001jcc.1	-	3	844	c.535G>A	c.(535-537)Ggg>Agg	p.G179R	OR13A1_uc001jcd.1_Missense_Mutation_p.G175R|OR13A1_uc021ppq.1_Missense_Mutation_p.G179R	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGCATCAGCCCCGTGTGGATG	0.602000														43			5		0	0	0.000602	0	0
PKDREJ	10343	broad.mit.edu	37	22	46657852	46657852	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr22:46657852G>A	uc003bhh.3	-	0	1368	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	456	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TGTGTGCTATGGCTTTTGGTC	0.418000														76			7		0	0	0.003080	0	0
SF3B3	23450	broad.mit.edu	37	16	70605701	70605702	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:70605701_70605702CC>TT	uc002ezf.3	+	25	3850_3851	c.3639_3640CC>TT	c.(3637-3642)acccgc>acTTgc	p.R1214C		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	1214					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATATCCGGACCCGCTACGCCTT	0.550000														45			4		0	0	0.004672	0	0
IL1RAP	3556	broad.mit.edu	37	3	190282125	190282125	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:190282125T>G	uc010hzg.2	+	3	468	c.47T>G	c.(46-48)cTg>cGg	p.L16R	IL1RAP_uc003fsk.3_Missense_Mutation_p.L16R|IL1RAP_uc003fsl.3_Missense_Mutation_p.L16R|IL1RAP_uc003fsm.2_Missense_Mutation_p.L16R|IL1RAP_uc003fso.2_Missense_Mutation_p.L16R|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Missense_Mutation_p.L16R	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	16					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)		TATGGAATCCTGCAAAGTGAT	0.383000														32			5		0	0	0.000602	0	0
MUC17	140453	broad.mit.edu	37	7	100678986	100678986	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:100678986C>T	uc003uxp.1	+	2	4342	c.4289C>T	c.(4288-4290)tCt>tTt	p.S1430F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1430	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)					GGGACCACTTCTGCTGAAGCC	0.498000														266			32		0	0	0.003271	0	0
CD1B	910	broad.mit.edu	37	1	158299174	158299174	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:158299174A>T	uc001frx.3	-	3	980	c.872T>A	c.(871-873)aTc>aAc	p.I291N	CD1B_uc001frw.3_Intron	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	291	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GTAGAGGATGATGTCCTGGCC	0.557000														50			5		0	0	0.001168	0	0
PKDREJ	10343	broad.mit.edu	37	22	46658278	46658278	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr22:46658278C>T	uc003bhh.3	-	0	942	c.942G>A	c.(940-942)ggG>ggA	p.G314G		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	314	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTTGGGGTTCCCTGTGGTGA	0.522000														187			10		0	0	0.006214	0	0
NOX1	27035	broad.mit.edu	37	X	100117282	100117282	+	Missense_Mutation	SNP	G	A	A	rs145941822	byFrequency	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:100117282G>A	uc004egj.3	-	6	888	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	NOX1_uc004egl.4_Missense_Mutation_p.R228W|NOX1_uc010nne.3_Missense_Mutation_p.R191W	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	228	Ferric oxidoreductase.				FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	NADPH oxidase complex|cell junction|early endosome|invadopodium membrane	Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GTTTGACCCCGGACAATTCCA	0.498000														174			19		0	0	0.010504	0	0
CSRNP3	80034	broad.mit.edu	37	2	166533019	166533020	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:166533019_166533020CC>TT	uc002udf.3	+	5	982_983	c.606_607CC>TT	c.(604-609)ctccga>ctTTga	p.R203*	CSRNP3_uc002udg.3_Nonsense_Mutation_p.R203*	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	203					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R203R(2)		breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCACGAACTCCGAGCCATCCG	0.525000														60			19		0	0	0.004672	0	0
MYO7A	4647	broad.mit.edu	37	11	76872132	76872132	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:76872132C>T	uc001oyb.2	+	11	1586	c.1314C>T	c.(1312-1314)atC>atT	p.I438I	MYO7A_uc010rsl.2_Silent_p.I438I|MYO7A_uc010rsm.1_Silent_p.I427I|MYO7A_uc001oyc.2_Silent_p.I438I	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	438	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCCTGGACATCTTTGGGTTTG	0.507000														34			6		0	0	0.004482	0	0
WDR52	55779	broad.mit.edu	37	3	113145025	113145025	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:113145025G>A	uc003ead.2	-	3	420	c.353C>T	c.(352-354)tCg>tTg	p.S118L	WDR52_uc003eae.2_Missense_Mutation_p.S118L	NM_001164496	NP_001157968	Q96MT7	WDR52_HUMAN	Homo sapiens WD repeat domain 52 (WDR52), transcript variant 1, mRNA.	118								p.S118L(2)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						AAAAGGCATCGAAGCAAGCTC	0.413000														136			10		0	0	0.010729	0	0
ATRX	546	broad.mit.edu	37	X	76938831	76938831	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:76938831C>G	uc004ecp.4	-	8	2149	c.1917G>C	c.(1915-1917)ttG>ttC	p.L639F	ATRX_uc004ecq.4_Missense_Mutation_p.L601F|ATRX_uc004eco.4_Missense_Mutation_p.L424F|ATRX_uc004ecr.2_Missense_Mutation_p.L571F|ATRX_uc010nlx.1_Missense_Mutation_p.L610F|ATRX_uc010nly.1_Missense_Mutation_p.L584F	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	639					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CATTTTCAACCAAATGCTCAT	0.413000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							217			10		0	0	0.006214	0	0
ETV3L	440695	broad.mit.edu	37	1	157062688	157062688	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:157062688G>A	uc001fqq.2	-	4	1124	c.839C>T	c.(838-840)gCc>gTc	p.A280V		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	280	Pro-rich.					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)				AAAATGCCAGGCCCCTGGGAG	0.637000														27			9		0	0	0.004482	0	0
ETV7	51513	broad.mit.edu	37	6	36336840	36336840	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:36336840G>A	uc003omb.3	-	5	932	c.673C>T	c.(673-675)Ctg>Ttg	p.L225L	ETV7_uc003olz.2_Silent_p.L225L|ETV7_uc003oma.2_Silent_p.L170L|ETV7_uc003omc.3_Silent_p.L170L|ETV7_uc010jwj.3_Silent_p.L166L|ETV7_uc010jwi.3_Silent_p.L148L|ETV7_uc010jwh.3_Silent_p.L144L|ETV7_uc011dtl.2_Silent_p.L74L	NM_016135	NP_001193970	Q9Y603	ETV7_HUMAN	Homo sapiens ets variant 7 (ETV7), transcript variant 1, mRNA.	225					organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						TCCCACAGCAGGCGGCAGTCT	0.547000														47			4		0	0	0.009096	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869816	151869816	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:151869816T>G	uc022chf.1	+	0	506	c.506T>G	c.(505-507)gTg>gGg	p.V169G	MAGEA6_uc004ffq.1_Missense_Mutation_p.V169G|MAGEA6_uc004ffr.1_Missense_Mutation_p.V169G	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	169	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGGAAGTGGACCCCATC	0.552000														86			9		0	0	0.008291	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858800	9858800	+	Silent	SNP	G	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:9858800G>T	uc010uym.2	-	13	2911	c.2601C>A	c.(2599-2601)atC>atA	p.I867I	GRIN2A_uc002czo.4_Silent_p.I867I|GRIN2A_uc010uyn.2_Silent_p.I710I|GRIN2A_uc002czr.4_Silent_p.I867I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	867					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGCAGCTGTAGATGCCCTGTA	0.468000														75			6		0.00116845	0.00165919	0.001168	1	0
ATXN7L3	56970	broad.mit.edu	37	17	42274730	42274730	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:42274730C>T	uc002iga.3	-	2	313	c.222G>A	c.(220-222)caG>caA	p.Q74Q	ATXN7L3_uc010wiv.2_5'Flank|ATXN7L3_uc002ifz.3_Silent_p.Q74Q	NM_001098833	NP_001092303	Q14CW9	AT7L3_HUMAN	Homo sapiens ataxin 7-like 3 (ATXN7L3), transcript variant 2, mRNA.	74					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGTTGAAAACCTGTCCAAAGA	0.597000														92			13		0	0	0.004007	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188538	32188538	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:32188538C>T	uc003obb.3	-	4	1056	c.917G>A	c.(916-918)tGg>tAg	p.W306*	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Nonsense_Mutation_p.W306*	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	306	EGF-like 7; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CTCACCTGTCCAGGTTTCTGG	0.587000														169			68		0	0	0.014410	0	0
SORCS3	22986	broad.mit.edu	37	10	106737111	106737111	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:106737111C>T	uc001kyi.1	+	3	1041	c.814C>T	c.(814-816)Cct>Tct	p.P272S		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	272						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)		TCTCAGTGATCCTGAGATGGA	0.388000														46			4		0	0	0.000602	0	0
AGXT	189	broad.mit.edu	37	2	241808729	241808729	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:241808729G>A	uc002waa.4	+	1	429	c.308G>A	c.(307-309)gGg>gAg	p.G103E	AGXT_uc010zoi.1_Missense_Mutation_p.G103E	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	103					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)	TTCCTGGTTGGGGCCAATGGC	0.642000														81			5		0	0	0.001168	0	0
THEMIS	387357	broad.mit.edu	37	6	128135008	128135008	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:128135008C>T	uc011ebt.2	-	3	927	c.778G>A	c.(778-780)Gat>Aat	p.D260N	THEMIS_uc010kfa.3_Missense_Mutation_p.D163N|THEMIS_uc021zfa.1_Missense_Mutation_p.D260N|THEMIS_uc010kfb.3_Missense_Mutation_p.D225N	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	260	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGTTAGCATCGTAAGAATCA	0.363000														78			11		0	0	0.001855	0	0
DOCK11	139818	broad.mit.edu	37	X	117762225	117762225	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:117762225C>T	uc004eqp.2	+	33	3827	c.3764C>T	c.(3763-3765)aCt>aTt	p.T1255I	DOCK11_uc004eqq.2_Missense_Mutation_p.T1034I	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1255					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGGGCAACACTGGTGAAAAT	0.383000														86			7		0	0	0.001984	0	0
GDF5	8200	broad.mit.edu	37	20	34025293	34025293	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:34025293G>A	uc010gfc.1	-	0	657	c.416C>T	c.(415-417)tCt>tTt	p.S139F	GDF5_uc002xck.1_Missense_Mutation_p.S139F	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	139					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)			GCTGGGGACAGATCCTGCTTT	0.652000														110			7		0	0	0.003080	0	0
LRRTM4	80059	broad.mit.edu	37	2	76975989	76975989	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:76975989G>A	uc002snr.3	-	3	2020	c.1605C>T	c.(1603-1605)atC>atT	p.I535I	LRRTM4_uc002snq.3_Silent_p.I535I	NM_001134745	NP_001128217	Q86VH4	LRRT4_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 4 (LRRTM4), transcript variant 1, mRNA.	535						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)		GGCAGTACCCGATCACAGGCT	0.537000														41			4		0	0	0.000602	0	0
PIK3R2	5296	broad.mit.edu	37	19	18273926	18273926	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:18273926G>T	uc002nia.1	+	9	1771	c.1259G>T	c.(1258-1260)cGg>cTg	p.R420L	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	420	SH2 1.				T cell costimulation|T cell receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	p.R420R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CTGGACACACGGCTCCTCTAC	0.592000														17			3		0.004672	0.0066122	0.004672	1	0
OR2M3	127062	broad.mit.edu	37	1	248366969	248366969	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:248366969C>T	uc010pzg.2	+	0	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L199H(1)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGATTCTTTTCATCTGCTGTA	0.443000														119			15		0	0	0.003163	0	0
PHF16	9767	broad.mit.edu	37	X	46887370	46887370	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:46887370C>T	uc004dgx.3	+	5	603	c.552C>T	c.(550-552)aaC>aaT	p.N184N	PHF16_uc004dgy.3_Silent_p.N184N	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	184					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AAAATATGAACCATGCTATTG	0.438000														56			11		0	0	0.008291	0	0
DNMT3L	29947	broad.mit.edu	37	21	45681060	45681060	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:45681060G>A	uc002zeg.1	-	1	567	c.83C>T	c.(82-84)tCc>tTc	p.S28F	DNMT3L_uc002zeh.1_Missense_Mutation_p.S28F	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	28					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)		GGGTGAAACGGAGCTTGAGAG	0.602000														79			8		0	0	0.004482	0	0
FOXM1	2305	broad.mit.edu	37	12	2983187	2983187	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:2983187G>A	uc001qlf.3	-	1	741	c.458C>T	c.(457-459)cCt>cTt	p.P153L	FOXM1_uc001qle.3_Missense_Mutation_p.P153L|FOXM1_uc009zea.3_Missense_Mutation_p.P153L|FOXM1_uc009zeb.3_Missense_Mutation_p.P153L|FOXM1_uc001qlg.3_Missense_Mutation_p.P153L	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	153					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 Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|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)			AGGTGGTCTAGGAAGATTCAC	0.562000														90			24		0	0	0.002780	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19744601	19744601	+	Silent	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:19744601A>G	uc002ykw.3	-	5	604	c.573T>C	c.(571-573)tgT>tgC	p.C191C		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	191	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.P190S(1)|p.P190>?(1)		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						GAGCATCAGTACAAGGACTTG	0.328000														28			5		0	0	0.001168	0	0
ZNF318	24149	broad.mit.edu	37	6	43306850	43306850	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:43306850T>G	uc003oux.3	-	9	4964	c.4886A>C	c.(4885-4887)cAa>cCa	p.Q1629P	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1629					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ACCCTCATCTTGATGCAACTC	0.458000														107			47		0	0	0.014410	0	0
XPO1	7514	broad.mit.edu	37	2	61711117	61711117	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:61711117T>C	uc010ypn.2	-	21	2761	c.2632A>G	c.(2632-2634)Atc>Gtc	p.I878V	XPO1_uc010fcl.3_Missense_Mutation_p.I874V|XPO1_uc002sbj.3_Missense_Mutation_p.I878V|XPO1_uc002sbk.3_Missense_Mutation_p.I439V|XPO1_uc002sbh.3_Missense_Mutation_p.I525V	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	878					intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GCCCAAATGATGGAATCCAAA	0.353000			Mis		CLL									66			4		0	0	0.000602	0	0
DYRK3	8444	broad.mit.edu	37	1	206821975	206821975	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:206821975C>A	uc001hej.3	+	2	1600	c.1432C>A	c.(1432-1434)Cca>Aca	p.P478T	DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Missense_Mutation_p.P458T	NM_003582	NP_003573	O43781	DYRK3_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA.	478	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)			GCGGGGTCCCCCAGGCAGCAA	0.562000														117			5		0.000602214	0.000858004	0.000602	1	0
ZNF230	7773	broad.mit.edu	37	19	44513269	44513269	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:44513269G>A	uc002oyb.1	+	3	427	c.176G>A	c.(175-177)aGg>aAg	p.R59K		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	59	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				CACTTCCTAAGGGAAGAAAAG	0.398000														40			8		0	0	0.004482	0	0
KIAA0284	283638	broad.mit.edu	37	14	105355980	105355980	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:105355980A>G	uc001yps.3	+	11	3964	c.3658A>G	c.(3658-3660)Agc>Ggc	p.S1220G	KIAA0284_uc010axb.3_Missense_Mutation_p.S1185G|KIAA0284_uc001ypt.3_5'UTR	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1290						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GAGGGCTGGCAGCTCCAGCCG	0.662000														29			8		0	0	0.004482	0	0
ZNF770	54989	broad.mit.edu	37	15	35274830	35274830	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:35274830C>T	uc001ziw.3	-	2	1160	c.806G>A	c.(805-807)gGt>gAt	p.G269D	ZNF770_uc021siy.1_Missense_Mutation_p.G269D	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTTTCAAAACCACCCTGATT	0.388000														23			11		0	0	0.008291	0	0
ELAVL2	1993	broad.mit.edu	37	9	23692808	23692808	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:23692808C>T	uc003zpu.3	-	6	1102	c.827G>A	c.(826-828)tGg>tAg	p.W276*	ELAVL2_uc003zps.3_Nonsense_Mutation_p.W263*|ELAVL2_uc003zpt.3_Nonsense_Mutation_p.W263*|ELAVL2_uc003zpv.3_Nonsense_Mutation_p.W276*|ELAVL2_uc003zpw.3_Nonsense_Mutation_p.W263*	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	276	RRM 3.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AAATATACACCACCCTGTTCC	0.468000														23			7		0	0	0.001984	0	0
SOGA2	23255	broad.mit.edu	37	18	8784400	8784400	+	Missense_Mutation	SNP	C	G	G	rs145456770		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr18:8784400C>G	uc002knr.2	+	5	1432	c.1290C>G	c.(1288-1290)agC>agG	p.S430R	SOGA2_uc002knq.2_Missense_Mutation_p.S430R|SOGA2_uc010dkw.1_Missense_Mutation_p.S268R	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	781																	GCTTCGGGAGCGGGAAGCCAT	0.657000														64			5		0	0	0.001168	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378655	114378655	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:114378655C>T	uc003pwg.4	-	1	839	c.807G>A	c.(805-807)gtG>gtA	p.V269V	BC042098_uc003pwf.3_Intron|HS3ST5_uc003pwh.4_Silent_p.V269V	NM_153612	NP_705840	Q8IZT8	HS3S5_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 5 (HS3ST5), mRNA.	269					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGAACTTCTCCACGAGCTGAA	0.403000														41			11		0	0	0.008291	0	0
OR11L1	391189	broad.mit.edu	37	1	248004713	248004713	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:248004713C>T	uc001idn.1	-	0	486	c.486G>A	c.(484-486)atG>atA	p.M162I		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M162I(2)|p.L161P(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACCTGGAAATCATCAGGGAAG	0.557000														62			11		0	0	0.010729	0	0
SCN11A	11280	broad.mit.edu	37	3	38962691	38962691	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:38962691C>T	uc021wvy.1	-	5	967	c.768G>A	c.(766-768)gtG>gtA	p.V256V		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	256					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)	TGAGGATAATCACGTTGACCA	0.532000														58			27		0	0	0.005443	0	0
ENC1	8507	broad.mit.edu	37	5	73931666	73931666	+	Silent	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:73931666A>G	uc003kdc.4	-	1	1776	c.645T>C	c.(643-645)atT>atC	p.I215I	ENC1_uc011css.2_Silent_p.I142I|ENC1_uc021yao.1_Silent_p.I215I	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	215					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGATCCAGTTAATTGCAGACT	0.498000														58			5		0	0	0.001168	0	0
ADAM20	8748	broad.mit.edu	37	14	70989757	70989757	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:70989757G>A	uc021rvs.1	-	0	1868	c.1868C>T	c.(1867-1869)cCc>cTc	p.P623L	ADAM20_uc001xme.3_Missense_Mutation_p.P623L	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	573	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TATCAGATTGGGAATTACTCC	0.443000														33			4		0	0	0.009096	0	0
SAMD9L	219285	broad.mit.edu	37	7	92761935	92761935	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:92761935G>A	uc003umh.1	-	4	4566	c.3350C>T	c.(3349-3351)tCc>tTc	p.S1117F	SAMD9L_uc003umj.1_Missense_Mutation_p.S1117F|SAMD9L_uc003umi.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfb.1_Missense_Mutation_p.S1117F|SAMD9L_uc003umk.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfc.1_Missense_Mutation_p.S1117F|SAMD9L_uc010lfd.1_Missense_Mutation_p.S1117F|SAMD9L_uc022ahh.1_Missense_Mutation_p.S1117F	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1117										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)			TGAAATATAGGAATTTTTAGG	0.383000														65			19		0	0	0.008871	0	0
PTK2	5747	broad.mit.edu	37	8	141799613	141799613	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:141799613G>A	uc003yvu.3	-	13	1447	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	PTK2_uc011ljq.2_Silent_p.S40S|PTK2_uc003yvp.3_Silent_p.S40S|PTK2_uc003yvq.3_5'UTR|PTK2_uc003yvr.3_Silent_p.S278S|PTK2_uc003yvs.3_Silent_p.S379S|PTK2_uc011ljr.2_Silent_p.S379S|PTK2_uc003yvt.3_Silent_p.S401S|PTK2_uc003yvv.3_Silent_p.S266S	NM_153831	NP_722560	Q05397	FAK1_HUMAN	Homo sapiens PTK2 protein tyrosine kinase 2 (PTK2), transcript variant 1, mRNA.	379					axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|SH2 domain binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CTTGCTTTTCGCTGTTGGCCA	0.547000														159			10		0	0	0.006214	0	0
PRR23C	389152	broad.mit.edu	37	3	138763081	138763081	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:138763081G>A	uc011bmt.1	-	0	654	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	128										breast(2)|lung(7)|skin(2)	11						TGAGCGCCCAGGAAAACGTCC	0.642000														5			3		0	0	0.004672	0	0
SLC7A7	9056	broad.mit.edu	37	14	23243589	23243589	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:23243589C>T	uc001wgr.4	-	7	1357	c.1219G>A	c.(1219-1221)Gag>Aag	p.E407K	SLC7A7_uc001wgs.4_Missense_Mutation_p.E407K|SLC7A7_uc001wgt.4_Missense_Mutation_p.E407K|SLC7A7_uc001wgu.4_Missense_Mutation_p.E407K|SLC7A7_uc001wgv.4_Missense_Mutation_p.E407K	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	407					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		CGATCAGGCTCCTTCCAGCGC	0.507000														103			9		0	0	0.006214	0	0
HMGCLL1	54511	broad.mit.edu	37	6	55378900	55378900	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:55378900C>T	uc003pcn.3	-	5	737	c.578G>A	c.(577-579)gGa>gAa	p.G193E	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.G163E|HMGCLL1_uc010jzx.3_Missense_Mutation_p.G64E|HMGCLL1_uc011dxc.2_Missense_Mutation_p.G131E|HMGCLL1_uc011dxd.2_Intron|HMGCLL1_uc003pcp.3_Missense_Mutation_p.G131E	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	193							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTCAAATTTTCCCATACTTTC	0.368000														20			6		0	0	0.003080	0	0
OR51I1	390063	broad.mit.edu	37	11	5461848	5461848	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr11:5461848C>T	uc010qze.2	-	0	936	c.897G>A	c.(895-897)aaG>aaA	p.K299K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	299					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)		TGCGGATCTCCTTGGTTTTCA	0.473000														43			5		0	0	0.000602	0	0
F5	2153	broad.mit.edu	37	1	169541540	169541540	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:169541540T>C	uc001ggg.1	-	2	437	c.292A>G	c.(292-294)Ata>Gta	p.I98V	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	98	F5/8 type A 1.|Plastocyanin-like 1.				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)	TGAACTTTTATGATGTCTCCG	0.353000														23			4		0	0	0.000602	0	0
ROS1	6098	broad.mit.edu	37	6	117609820	117609820	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:117609820G>A	uc003pxp.1	-	42	7078	c.6879C>T	c.(6877-6879)ggC>ggT	p.G2293G	ROS1_uc011ebi.1_Non-coding_Transcript	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2293					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)		ATTCCTGGGAGCCTAGAGGAC	0.448000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									56			16		0	0	0.006122	0	0
SPTA1	6708	broad.mit.edu	37	1	158618307	158618307	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:158618307C>T	uc001fst.1	-	25	3905	c.3706G>A	c.(3706-3708)Gga>Aga	p.G1236R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1236					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)					ACCTTATCTCCCAGGGGTACG	0.498000														54			13		0	0	0.013537	0	0
COL11A1	1301	broad.mit.edu	37	1	103470043	103470043	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:103470043C>T	uc001dum.3	-	20	2254	c.1936_splice	c.e20-1	p.G646_splice	COL11A1_uc001duk.3_Splice_Site|COL11A1_uc001dul.3_Splice_Site_p.G634_splice|COL11A1_uc001dun.3_Splice_Site_p.G595_splice|COL11A1_uc009weh.3_Splice_Site_p.G518_splice	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	634	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)		TCCATCTTCTCCCTGTCATTG	0.289000														16			3		0	0	0.000602	0	0
ALPI	248	broad.mit.edu	37	2	233321104	233321104	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:233321104C>T	uc002vst.4	+	1	190	c.113C>T	c.(112-114)gCc>gTc	p.A38V	ALPI_uc002vsu.4_5'UTR	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	38					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)		GCAGCTGAGGCCCTGGATGCT	0.637000														32			16		0	0	0.004007	0	0
SIN3B	23309	broad.mit.edu	37	19	16974538	16974538	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:16974538C>T	uc002ney.2	+	10	1433	c.1410C>T	c.(1408-1410)tcC>tcT	p.S470S	SIN3B_uc002nez.2_Silent_p.S438S|SIN3B_uc010xpi.1_Silent_p.S28S	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	470	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGAGGACTCCACGTTCGTCA	0.607000														54			10		0	0	0.006214	0	0
OR6V1	346517	broad.mit.edu	37	7	142750017	142750017	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142750017G>A	uc011ksv.2	+	0	580	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	194					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)					TCGCCTGTTGGAATTCTGGGA	0.522000														140			30		0	0	0.007291	0	0
LPO	4025	broad.mit.edu	37	17	56329569	56329569	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:56329569G>A	uc002ivt.3	+	7	1123	c.807G>A	c.(805-807)ggG>ggA	p.G269G	LPO_uc010wns.2_Silent_p.G210G|LPO_uc010dcp.3_Silent_p.G186G|LPO_uc010dcq.3_Intron|LPO_uc010dcr.3_5'UTR	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	269					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CCAAGGCGGGGACTCAAGGGA	0.607000														31			6		0	0	0.001984	0	0
TBX22	50945	broad.mit.edu	37	X	79286459	79286459	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:79286459C>T	uc010nmg.1	+	8	1546	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	TBX22_uc004edi.1_Missense_Mutation_p.S351F|TBX22_uc004edj.1_Missense_Mutation_p.S471F	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	471					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTCATCCTTCCTATGACTTT	0.368000														27			10		0	0	0.006214	0	0
SERPINE1	5054	broad.mit.edu	37	7	100771930	100771930	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:100771930G>A	uc003uxt.3	+	1	404	c.256G>A	c.(256-258)Gga>Aga	p.G86R	SERPINE1_uc011kkj.2_Missense_Mutation_p.G71R|SERPINE1_uc003uxu.2_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	86					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.G86V(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	AGCAGCTATGGGATTCAAGAT	0.577000														42			5		0	0	0.001984	0	0
SCN3A	6328	broad.mit.edu	37	2	166019265	166019265	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:166019265G>A	uc002ucx.3	-	7	1260	c.768C>T	c.(766-768)ttC>ttT	p.F256F	SCN3A_uc002ucy.3_Silent_p.F256F|SCN3A_uc002ucz.3_Silent_p.F256F|SCN3A_uc002uda.1_Silent_p.F125F|SCN3A_uc002udb.1_Silent_p.F125F	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	256						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CGCTCAGACAGAACACAGTCA	0.478000														62			5		0	0	0.000602	0	0
AP3M2	10947	broad.mit.edu	37	8	42012230	42012230	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:42012230A>T	uc003xop.3	+	2	316	c.25A>T	c.(25-27)Aac>Tac	p.N9Y	AP3M2_uc003xoo.3_Missense_Mutation_p.N9Y|AP3M2_uc010lxe.3_Non-coding_Transcript|AP3M2_uc003xoq.2_5'UTR	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	9					intracellular protein transport|vesicle-mediated transport	Golgi apparatus|clathrin adaptor complex				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			TTTCTTGATCAACTCCTCTGG	0.433000														43			13		0	0	0.002450	0	0
RYK	6259	broad.mit.edu	37	3	133894462	133894462	+	Silent	SNP	A	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:133894462A>T	uc003eqc.1	-	13	1661	c.1563T>A	c.(1561-1563)gcT>gcA	p.A521A	RYK_uc003eqd.1_Silent_p.A518A	NM_001005861	NP_001005861	P34925	RYK_HUMAN	Homo sapiens RYK receptor-like tyrosine kinase (RYK), transcript variant 1, mRNA.	519	Protein kinase.				Wnt receptor signaling pathway|corpus callosum development|positive regulation of MAPKKK cascade	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CCACATCACTAGCGCTAGAGA	0.413000														148			26		0	0	0.006320	0	0
CUX2	23316	broad.mit.edu	37	12	111748275	111748275	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:111748275G>A	uc001tsa.2	+	14	1843	c.1689G>A	c.(1687-1689)aaG>aaA	p.K563K		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	563						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						TCCAGGTGAAGGAGCAGCTGC	0.687000														57			6		0	0	0.003080	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725032	7725033	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:7725032_7725033GG>AA	uc001aoi.3	+	8	2632_2633	c.2425_2426GG>AA	c.(2425-2427)ggg>AAg	p.G809K		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	809					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCAGAGGACGGGGCGCGGGCC	0.683000			T	WWTR1	epitheliod hemangioendothelioma									160			27		0	0	0.004672	0	0
GLYCTK	132158	broad.mit.edu	37	3	52325072	52325072	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:52325072C>T	uc003ddo.3	+	2	570	c.474C>T	c.(472-474)atC>atT	p.I158I	GLYCTK_uc003ddq.2_Silent_p.I158I|GLYCTK_uc003ddm.3_Non-coding_Transcript|GLYCTK_uc003ddn.3_Non-coding_Transcript|GLYCTK_uc003ddp.1_Silent_p.I158I|GLYCTK_uc003ddr.3_5'Flank	NM_145262	NP_660305	Q8IVS8	GLCTK_HUMAN	Homo sapiens glycerate kinase (GLYCTK), transcript variant 1, mRNA.	158					protein phosphorylation	Golgi apparatus|mitochondrion	ATP binding|glycerate kinase activity|protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235)		CACTGGCCATCCAGCAACTGG	0.622000														23			8		0	0	0.004482	0	0
TTBK1	84630	broad.mit.edu	37	6	43250473	43250473	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:43250473C>T	uc003ouq.1	+	13	2274	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	TTBK1_uc021yzs.1_5'UTR	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	665						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGGTGTTCTCCGTGGCGCCCC	0.597000														113			19		0	0	0.008871	0	0
GABRA1	2554	broad.mit.edu	37	5	161300147	161300147	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:161300147C>T	uc010jiw.3	+	5	748	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	GABRA1_uc010jix.3_Missense_Mutation_p.R94C|GABRA1_uc010jiy.3_Missense_Mutation_p.R94C|GABRA1_uc003lyx.4_Missense_Mutation_p.R94C|GABRA1_uc010jiz.3_Missense_Mutation_p.R94C|GABRA1_uc010jja.3_Missense_Mutation_p.R94C|GABRA1_uc010jjb.3_Missense_Mutation_p.R94C	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	94					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity	p.R94C(2)|p.R94H(2)|p.F93F(1)|p.R94L(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)	TGTATTTTTCCGTCAAAGCTG	0.373000														64			9		0	0	0.006214	0	0
EP400	57634	broad.mit.edu	37	12	132562000	132562000	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:132562000C>T	uc001ujn.3	+	52	9306	c.9154C>T	c.(9154-9156)Cag>Tag	p.Q3052*	EP400_uc021rgq.1_Nonsense_Mutation_p.Q3051*|EP400_uc001ujm.3_Nonsense_Mutation_p.Q2971*|EP400_uc001ujp.3_Nonsense_Mutation_p.Q262*|EP400_uc010tbo.2_Missense_Mutation_p.A118V	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	3088					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGCAGGTGCAGATGATCCC	0.627000														63			6		0	0	0.001984	0	0
FGFR1	2260	broad.mit.edu	37	8	38277177	38277177	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:38277177G>A	uc022aua.1	-	8	2100	c.1158C>T	c.(1156-1158)ctC>ctT	p.L386L	FGFR1_uc010lwf.3_5'Flank|FGFR1_uc011lbu.2_Silent_p.L417L|FGFR1_uc011lbv.2_Silent_p.L384L|FGFR1_uc011lbw.2_Silent_p.L297L|FGFR1_uc003xlp.3_Silent_p.L386L|FGFR1_uc022aub.1_Silent_p.L384L|FGFR1_uc022auc.1_Silent_p.L297L|FGFR1_uc022aud.1_Silent_p.L295L|FGFR1_uc010lwk.3_Silent_p.L378L|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Silent_p.L226L|FGFR1_uc011lbt.1_3'UTR	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	386					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	TGCAGGAGATGAGGAAGGCCC	0.557000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							45			4		0	0	0.009096	0	0
CDH13	1012	broad.mit.edu	37	16	83636110	83636110	+	Nonsense_Mutation	SNP	G	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:83636110G>T	uc010vns.2	+	8	1417	c.1153G>T	c.(1153-1155)Gga>Tga	p.G385*	CDH13_uc002fgx.3_Nonsense_Mutation_p.G338*|CDH13_uc010vnt.2_Nonsense_Mutation_p.G84*|CDH13_uc010vnu.2_Nonsense_Mutation_p.G299*	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	338	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		AGATATGGCTGGACTGGATGT	0.418000														168			28		6.38683e-12	9.38203e-12	0.008361	1	0
PPEF1	5475	broad.mit.edu	37	X	18775836	18775836	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:18775836C>T	uc004cyq.3	+	7	969	c.488C>T	c.(487-489)cCc>cTc	p.P163L	PPEF1_uc004cyp.3_Missense_Mutation_p.P163L|PPEF1_uc004cyr.3_Missense_Mutation_p.P163L|PPEF1_uc004cys.3_Missense_Mutation_p.P163L|PPEF1_uc011mja.2_Missense_Mutation_p.P98L|PPEF1_uc011mjb.2_Missense_Mutation_p.P107L	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	163	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CAAACTTCTCCCTCCAAAGAG	0.408000														133			17		0	0	0.008871	0	0
HCRTR2	3062	broad.mit.edu	37	6	55145222	55145222	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:55145222T>G	uc003pcl.3	+	5	1400	c.1085T>G	c.(1084-1086)aTt>aGt	p.I362S	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	362					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.I362N(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCGAATCCAATTATTTATAAT	0.388000														45			6		0	0	0.001168	0	0
NPPA	4878	broad.mit.edu	37	1	11907371	11907372	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:11907371_11907372CC>GT	uc001ati.3	-	1	347_348	c.248_249GG>AC	c.(247-249)tgg>tAC	p.W83Y	CLCN6_uc010oba.1_Intron|CLCN6_uc010oav.1_Intron|CLCN6_uc010oay.1_Intron|CLCN6_uc010oax.1_Intron|CLCN6_uc010oaw.1_Intron|CLCN6_uc010oaz.1_Intron	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	83					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTTCCCCGGTCCAGGGAGGCAC	0.629000														51			9		0	0	0.004672	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99512803	99512803	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:99512803C>T	uc002bum.3	-	3	522	c.222G>A	c.(220-222)cgG>cgA	p.R74R	PGPEP1L_uc010bop.3_Silent_p.R20R|PGPEP1L_uc002bun.3_Silent_p.R20R	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN	Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.	74					proteolysis		cysteine-type peptidase activity	p.R74R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TGTCGGCGTCCCGGTAGCCTT	0.627000														52			30		0	0	0.007291	0	0
DPEP2	64174	broad.mit.edu	37	16	68021800	68021800	+	Silent	SNP	A	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:68021800A>C	uc010cey.3	-	8	1325	c.1161T>G	c.(1159-1161)ggT>ggG	p.G387G	DPEP2_uc002eve.3_Silent_p.G387G|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	387					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		CACGAAGGACACCCTGAAGCT	0.567000														98			19		0	0	0.002780	0	0
CES2	8824	broad.mit.edu	37	16	66974523	66974523	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:66974523C>T	uc002eqr.3	+	4	1933	c.933C>T	c.(931-933)ttC>ttT	p.F311F	CES2_uc002eqq.3_Silent_p.F311F|CES2_uc002eqs.3_Silent_p.F154F	NM_003869	NP_003860	O00748	EST2_HUMAN	Homo sapiens carboxylesterase 2 (CES2), transcript variant 1, mRNA.	247					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)		AAGGACTCTTCCACGGAGCCA	0.597000														65			13		0	0	0.013537	0	0
C12orf63	374467	broad.mit.edu	37	12	97147663	97147663	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:97147663C>T	uc021rcc.1	+	22	3180	c.3102C>T	c.(3100-3102)atC>atT	p.I1034I				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	1034										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						AAGCTGAAATCCTTTTTCAGA	0.418000														24			8		0	0	0.006214	0	0
SMC5	23137	broad.mit.edu	37	9	72938433	72938433	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:72938433G>A	uc004ahr.2	+	15	2302	c.2185G>A	c.(2185-2187)Gaa>Aaa	p.E729K		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	729					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTGCAATCTTGAAGAGGAAGA	0.318000														57			11		0	0	0.008291	0	0
PRDX6	9588	broad.mit.edu	37	1	173450482	173450482	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:173450482C>T	uc001giy.1	+	1	164	c.113C>T	c.(112-114)tCc>tTc	p.S38F		NM_004905	NP_004896	P30041	PRDX6_HUMAN	Homo sapiens peroxiredoxin 6 (PRDX6), mRNA.	38	Thioredoxin.				cell redox homeostasis|phospholipid catabolic process	cytoplasmic membrane-bounded vesicle|cytosol|lysosome	peroxiredoxin activity|phospholipase A2 activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	12						ATTCTCTTCTCCCACCCTCGG	0.453000														55			14		0	0	0.006122	0	0
HEATR5A	25938	broad.mit.edu	37	14	31774132	31774132	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:31774132G>A	uc001wrf.4	-	31	5403	c.5218C>T	c.(5218-5220)Cct>Tct	p.P1740S	HEATR5A_uc010ami.3_Missense_Mutation_p.P1345S	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1734							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)		CACACTGCAGGAAGTTCGGAA	0.418000														29			5		0	0	0.000602	0	0
ATRX	546	broad.mit.edu	37	X	76938827	76938827	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:76938827C>T	uc004ecp.4	-	8	2153	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	ATRX_uc004ecq.4_Missense_Mutation_p.E603K|ATRX_uc004eco.4_Missense_Mutation_p.E426K|ATRX_uc004ecr.2_Missense_Mutation_p.E573K|ATRX_uc010nlx.1_Missense_Mutation_p.E612K|ATRX_uc010nly.1_Missense_Mutation_p.E586K	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	641					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACTTCATTTTCAACCAAATGC	0.408000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome							208			10		0	0	0.006214	0	0
SLC7A2	6542	broad.mit.edu	37	8	17407830	17407830	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:17407830G>A	uc011kye.2	+	4	887	c.839G>A	c.(838-840)gGa>gAa	p.G280E	SLC7A2_uc011kyc.2_Missense_Mutation_p.G240E|SLC7A2_uc011kyd.2_Missense_Mutation_p.G280E	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	240					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)	TCTGAAAACGGAACAAGTATC	0.443000														18			10		0	0	0.008291	0	0
DOCK3	1795	broad.mit.edu	37	3	51370636	51370636	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:51370636C>T	uc011bds.2	+	34	3586	c.3563C>T	c.(3562-3564)tCc>tTc	p.S1188F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1188	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		ACCGGCATTTCCTTTGTGACC	0.532000														73			28		0	0	0.012213	0	0
TTC29	83894	broad.mit.edu	37	4	147724715	147724715	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:147724715C>T	uc003ikx.4	-	11	1552	c.1302G>A	c.(1300-1302)atG>atA	p.M434I	TTC29_uc003ikw.4_Missense_Mutation_p.M408I|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Missense_Mutation_p.M408I	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	408							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)					CTGTAAGCATCATCTGATGAG	0.433000														16			3		0	0	0.004672	0	0
SDHAP1	255812	broad.mit.edu	37	3	195710983	195710983	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:195710983C>T	uc011btq.1	-	3	418	c.-211_splice	c.e3+1		SDHAP1_uc003fvx.3_Splice_Site|SDHAP1_uc011btp.1_Splice_Site					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		GCGGCCTTACCCTCCCGTATA	0.617000														9			3		0	0	0.009096	0	0
PASD1	139135	broad.mit.edu	37	X	150773145	150773145	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:150773145G>A	uc004fev.4	+	2	388	c.56G>A	c.(55-57)aGg>aAg	p.R19K		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	19						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)					AGCTCTCAAAGGAAATTAAAC	0.333000														18			3		0	0	0.004672	0	0
ZNF326	284695	broad.mit.edu	37	1	90473104	90473104	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:90473104C>T	uc001dnq.2	+	4	549	c.410C>T	c.(409-411)tCc>tTc	p.S137F	ZNF326_uc009wda.1_Intron|ZNF326_uc001dnr.2_Intron	NM_182976	NP_892021	Q5BKZ1	ZN326_HUMAN	Homo sapiens zinc finger protein 326 (ZNF326), transcript variant 1, mRNA.	137	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		GCACCTTACTCCCGTTCAAAA	0.498000														52			10		0	0	0.006214	0	0
USPL1	10208	broad.mit.edu	37	13	31232501	31232501	+	Silent	SNP	T	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr13:31232501T>C	uc001utc.2	+	8	2719	c.2287T>C	c.(2287-2289)Tta>Cta	p.L763L	USPL1_uc001utd.2_Silent_p.L434L|USPL1_uc001ute.1_Silent_p.L434L	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	763					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GGTTAAAGGCTTAATAAGCAG	0.363000														61			9		0	0	0.004482	0	0
EDEM2	55741	broad.mit.edu	37	20	33719456	33719456	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr20:33719456G>A	uc002xbo.2	-	6	933	c.833C>T	c.(832-834)gCc>gTc	p.A278V	EDEM2_uc010zuv.1_Missense_Mutation_p.A237V|EDEM2_uc010zus.1_Missense_Mutation_p.A57V|EDEM2_uc002xbq.2_Missense_Mutation_p.A241V|EDEM2_uc010zut.1_Missense_Mutation_p.A237V|EDEM2_uc002xbn.2_Missense_Mutation_p.A126V|EDEM2_uc010zuu.1_Missense_Mutation_p.A2V	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 2 (EDEM2), transcript variant 1, mRNA.	278					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TAGGAACATGGCCATGAGCTT	0.468000														161			54		0	0	0.014410	0	0
TRBV5-4	28611	broad.mit.edu	37	7	142168459	142168459	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142168459G>A	uc011kry.1	-	1	430	c.264C>T	c.(262-264)ttC>ttT	p.F88F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|TRBV5-4_uc022anj.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		TATCATTAGGGAACTGGAGAC	0.537000														92			13		0	0	0.004007	0	0
TLR4	7099	broad.mit.edu	37	9	120475753	120475753	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:120475753C>T	uc004bjz.3	+	2	1638	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	TLR4_uc004bkb.3_Silent_p.L249L|TLR4_uc004bka.3_Silent_p.L409L	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	449					I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T-helper 1 type immune response|Toll signaling pathway|activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|innate immune response|intestinal epithelial structure maintenance|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity	p.L449L(2)|p.N448H(1)		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						TCAGAAACCTCATTTACCTTG	0.393000														38			13		0	0	0.001855	0	0
EGFR	1956	broad.mit.edu	37	7	55214414	55214414	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:55214414C>T	uc003tqk.3	+	3	786	c.540C>T	c.(538-540)ttC>ttT	p.F180F	EGFR_uc003tqh.3_Silent_p.F180F|EGFR_uc003tqi.3_Silent_p.F180F|EGFR_uc003tqj.3_Silent_p.F180F|EGFR_uc022adm.1_Silent_p.F180F|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Silent_p.F127F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	180					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		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)	CGATGGACTTCCAGAACCACC	0.577000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				28			4		0	0	0.009096	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146414	70146414	+	Missense_Mutation	SNP	C	T	T	rs149421320		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:70146414C>T	uc003hej.3	+	0	198	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	UGT2B28_uc010ihr.3_Missense_Mutation_p.P66S	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	66					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)	TCTTTTTGATCCCAATGACGC	0.383000														79			10		0	0	0.006214	0	0
ZFP41	286128	broad.mit.edu	37	8	144332571	144332571	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:144332571C>T	uc003yxw.3	+	1	916	c.558C>T	c.(556-558)ctC>ctT	p.L186L	ZFP41_uc003yxv.3_Non-coding_Transcript|ZFP41_uc022bcg.1_Silent_p.L186L	NM_173832	NP_776193	Q8N8Y5	ZFP41_HUMAN	Homo sapiens zinc finger protein 41 homolog (mouse) (ZFP41), mRNA.	186					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)			GCTCCTGTCTCATCCGCCATC	0.632000														66			19		0	0	0.008871	0	0
DAB2	1601	broad.mit.edu	37	5	39377033	39377033	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:39377033G>A	uc003jlx.3	-	11	2387	c.1856C>T	c.(1855-1857)cCt>cTt	p.P619L	DAB2_uc003jlw.3_Missense_Mutation_p.P598L	NM_001343	NP_001334	P98082	DAB2_HUMAN	Homo sapiens disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila) (DAB2), transcript variant 1, mRNA.	619					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TGGCTGAGGAGGAGTGACCAG	0.532000											OREG0016586	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		114			18		0	0	0.012319	0	0
ADAM10	102	broad.mit.edu	37	15	58925492	58925492	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:58925492G>A	uc002afd.1	-	8	1523	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.T59I|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	360	Peptidase M12B.				Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|positive regulation of T cell chemotaxis|positive regulation of cell growth|positive regulation of cell proliferation|protein phosphorylation|response to tumor necrosis factor	Golgi-associated vesicle|cell surface|endomembrane system|integral to membrane|nucleus|plasma membrane	SH3 domain binding|integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AATAATTCCAGTGTTTAAGGA	0.368000														29			4		0	0	0.009096	0	0
SCN11A	11280	broad.mit.edu	37	3	38991760	38991760	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:38991760C>T	uc021wvy.1	-	0	293	c.94G>A	c.(94-96)Gcc>Acc	p.A32T		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	32					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)	TTTTGGATGGCAATCCGCTTC	0.512000														89			41		0	0	0.007835	0	0
MYCBP2	23077	broad.mit.edu	37	13	77672656	77672656	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr13:77672656G>A	uc021rks.1	-	55	8900	c.8633C>T	c.(8632-8634)cCa>cTa	p.P2878L	MYCBP2_uc010aev.3_Missense_Mutation_p.P2244L|MYCBP2_uc001vkg.1_Missense_Mutation_p.P363L|MYCBP2_uc010aew.3_Missense_Mutation_p.P226L	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	2840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGGGTATCTGGATCAAGTGT	0.433000														32			7		0	0	0.001984	0	0
OSBPL8	114882	broad.mit.edu	37	12	76767208	76767208	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr12:76767208G>A	uc001sye.1	-	17	2313	c.1833C>T	c.(1831-1833)ttC>ttT	p.F611F	OSBPL8_uc001syf.1_Silent_p.F569F|OSBPL8_uc001syg.1_Silent_p.F569F|OSBPL8_uc001syh.1_Silent_p.F586F	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	611					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						TACTCCCTAGGAATGGCTTTT	0.303000														30			4		0	0	0.009096	0	0
AOX1	316	broad.mit.edu	37	2	201488594	201488594	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:201488594T>G	uc002uvx.3	+	18	2113	c.2012T>G	c.(2011-2013)gTg>gGg	p.V671G	AOX1_uc010zhf.2_Missense_Mutation_p.V227G|AOX1_uc010fsu.3_Missense_Mutation_p.V37G	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	671					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTGTTCTGTGTGGGTCAGCTT	0.488000														109			7		0	0	0.003080	0	0
FRMPD4	9758	broad.mit.edu	37	X	12735174	12735174	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:12735174G>A	uc004cuz.2	+	14	3102	c.2596G>A	c.(2596-2598)Gat>Aat	p.D866N	FRMPD4_uc011mij.2_Missense_Mutation_p.D858N	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	866					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAAGGGACTGGATAATGCCGT	0.527000														66			4		0	0	0.001168	0	0
SLC25A5	292	broad.mit.edu	37	X	118603857	118603857	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:118603857G>A	uc004erh.4	+	1	461	c.345G>A	c.(343-345)ggG>ggA	p.G115G	SLC25A5-AS1_uc022cdj.1_5'Flank|SLC25A5-AS1_uc004ere.1_5'Flank|SLC25A5-AS1_uc004erg.1_5'Flank	NM_001152	NP_001143	P05141	ADT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 (SLC25A5), nuclear gene encoding mitochondrial protein, mRNA.	115					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	MMXD complex|integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	ACTTTGCAGGGAATCTGGCAT	0.527000														137			13		0	0	0.004007	0	0
PSME4	23198	broad.mit.edu	37	2	54159155	54159155	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:54159155C>T	uc002rxp.2	-	9	1189	c.1133G>A	c.(1132-1134)tGg>tAg	p.W378*	PSME4_uc010yop.1_Nonsense_Mutation_p.W264*|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_5'UTR|PSME4_uc010fbv.1_Intron|PSME4_uc021vho.1_Nonsense_Mutation_p.W363*	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	378					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|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|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)			AGGAGTTAACCAAGAGGGCTT	0.418000														54			5		0	0	0.000602	0	0
OR13C5	138799	broad.mit.edu	37	9	107361332	107361332	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:107361332G>A	uc011lvp.2	-	0	363	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121H(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCACATAGCGGTCAAAGGCCA	0.517000														74			14		0	0	0.004007	0	0
OTOL1	131149	broad.mit.edu	37	3	161214732	161214732	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:161214732C>T	uc011bpb.2	+	0	137	c.137C>T	c.(136-138)cCa>cTa	p.P46L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	46						collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GGTCTAAAGCCATCCAGTGGC	0.443000														22			6		0	0	0.001168	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562914	11562914	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:11562914G>A	uc001ash.4	+	2	1414	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	PTCHD2_uc001asi.1_Missense_Mutation_p.V426M	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	426					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCAGAGCTTCGTGGTCACCTA	0.542000														37			6		0	0	0.001984	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423623	142423623	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:142423623C>T	uc010lol.1	+	1	312	c.279C>T	c.(277-279)ttC>ttT	p.F93F	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AGAGGAATTTCCCCCTGATCC	0.498000														30			5		0	0	0.000602	0	0
GLRA4	441509	broad.mit.edu	37	X	102962405	102962405	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:102962405C>G	uc011mse.2	-	8	1542	c.1121G>C	c.(1120-1122)cGt>cCt	p.R374P		NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA.	374						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						GCCATAGCCACGGAAATAGAA	0.488000														50			10		0	0	0.008291	0	0
UBE3C	9690	broad.mit.edu	37	7	156971527	156971527	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:156971527A>G	uc010lqs.3	+	5	914	c.602A>G	c.(601-603)tAc>tGc	p.Y201C	UBE3C_uc003wnf.2_Missense_Mutation_p.Y158C|UBE3C_uc003wng.2_Missense_Mutation_p.Y201C	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	201					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ATTTTGCACTACATGATTCAC	0.463000														46			6		0	0	0.003080	0	0
SLC13A2	9058	broad.mit.edu	37	17	26817457	26817457	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:26817457G>T	uc010wan.2	+	2	431	c.364G>T	c.(364-366)Gtc>Ttc	p.V122F	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_Intron|SLC13A2_uc002hbh.3_Intron|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_Intron	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	73						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)	GCTCAGCCATGTCTCCACCTG	0.617000														103			9		5.68852e-11	8.32753e-11	0.004482	1	0
abParts	0	broad.mit.edu	37	22	22550546	22550546	+	RNA	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr22:22550546C>T	uc021wml.1	+	14		c.1357C>T								Parts of antibodies, mostly variable regions.																		TAACCAAAGACCCTCTGGGGT	0.587000														39			12		0	0	0.001855	0	0
ZFP106	64397	broad.mit.edu	37	15	42743543	42743543	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr15:42743543G>C	uc001zpw.3	-	1	1185	c.858C>G	c.(856-858)gaC>gaG	p.D286E	ZFP106_uc001zpu.3_5'Flank|ZFP106_uc001zpv.3_Intron|ZFP106_uc001zpx.3_Intron|ZFP106_uc010udh.1_Missense_Mutation_p.D69E|ZFP106_uc001zpy.1_Missense_Mutation_p.D309E	NM_022473	NP_071918	Q9H2Y7	ZF106_HUMAN	Homo sapiens zinc finger protein 106 homolog (mouse) (ZFP106), mRNA.	286						nucleolus	zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	61		all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.6e-07)		TACCAAGTTTGTCATTTTCTT	0.383000														59			3		0	0	0.000602	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140235641	140235641	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:140235641C>T	uc003lhx.2	+	0	8	c.8C>T	c.(7-9)tCc>tTc	p.S3F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.S3F|PCDHAC2_uc011dad.2_Missense_Mutation_p.S3F	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGGTTTCCAGATGTAGC	0.493000														103			15		0	0	0.003163	0	0
NEK3	4752	broad.mit.edu	37	13	52709904	52709904	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr13:52709904G>A	uc001vgh.3	-	11	2513	c.1282C>T	c.(1282-1284)Ctc>Ttc	p.L428F	NEK3_uc001vgi.3_Missense_Mutation_p.L423F|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.L407F	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	424					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GCCAAGCTGAGATCAGCATTC	0.378000														48			6		0	0	0.001168	0	0
SF3B1	23451	broad.mit.edu	37	2	198257122	198257122	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:198257122T>A	uc002uue.3	-	24	3868	c.3820A>T	c.(3820-3822)Att>Ttt	p.I1274F		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	1274					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGGGAACCAATGTAGATGGAG	0.343000			Mis		myelodysplastic syndrome									31			3		0	0	0.004672	0	0
FER1L6	654463	broad.mit.edu	37	8	125052167	125052167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:125052167G>A	uc003yqw.3	+	19	2715	c.2509G>A	c.(2509-2511)Ggc>Agc	p.G837S	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	837	C2 3.					integral to membrane		p.R836R(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAAGCCCGGGGCCTCATCGC	0.507000														79			12		0	0	0.013537	0	0
FAM5B	57795	broad.mit.edu	37	1	177249597	177249597	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:177249597G>A	uc001glf.3	+	7	1597	c.1285G>A	c.(1285-1287)Gaa>Aaa	p.E429K	FAM5B_uc001glg.3_Missense_Mutation_p.E324K	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	429						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						CTACTGTGGGGAAAGCACCTT	0.542000														57			10		0	0	0.006214	0	0
SLC45A1	50651	broad.mit.edu	37	1	8395589	8395589	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:8395589C>T	uc001apb.3	+	4	1536	c.1536C>T	c.(1534-1536)ctC>ctT	p.L512L	SLC45A1_uc001apc.3_Silent_p.L210L	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	512					carbohydrate transport	integral to membrane	symporter activity	p.L512L(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCGCCTCTGCTCCACCA	0.652000														40			11		0	0	0.008291	0	0
SF3B1	23451	broad.mit.edu	37	2	198267484	198267484	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:198267484G>A	uc002uue.3	-	13	1921	c.1873C>T	c.(1873-1875)Cgt>Tgt	p.R625C		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	625					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding	p.R625C(14)|p.R625L(12)|p.R625?(9)|p.R625P(2)|p.R625H(2)|p.R625G(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTTGTGTTACGGACATACTCA	0.433000			Mis		myelodysplastic syndrome									35			4		0	0	0.009096	0	0
HUWE1	10075	broad.mit.edu	37	X	53642794	53642794	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:53642794C>T	uc004dsp.3	-	21	2362	c.1960G>A	c.(1960-1962)Gat>Aat	p.D654N		NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	654					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						GATGCAGTATCCCCTTAAGGC	0.423000														17			5		0	0	0.000602	0	0
KRTAP10-9	386676	broad.mit.edu	37	21	46047895	46047895	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:46047895C>T	uc002zfp.4	+	0	856	c.807C>T	c.(805-807)tcC>tcT	p.S269S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	269						keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CCTGTGTGTCCCTTCTCTGCC	0.706000														51			13		0	0	0.003163	0	0
SLC2A9	56606	broad.mit.edu	37	4	9982236	9982236	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:9982236G>A	uc003gmc.3	-	4	722	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	SLC2A9_uc003gmd.3_Silent_p.L192L	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	221					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						AGCTCGGGCAGGCCCAGAAGC	0.557000														28			3		0	0	0.004672	0	0
DPY19L3	147991	broad.mit.edu	37	19	32923671	32923671	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:32923671C>T	uc002ntg.3	+	3	485	c.287C>T	c.(286-288)tCc>tTc	p.S96F	DPY19L3_uc002nth.2_Missense_Mutation_p.S96F	NM_001172774	NP_997208	Q6ZPD9	D19L3_HUMAN	Homo sapiens dpy-19-like 3 (C. elegans) (DPY19L3), transcript variant 2, mRNA.	96						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(4)|pancreas(1)	32	Esophageal squamous(110;0.162)					CTGTATTACTCCTACTACAAG	0.398000														39			9		0	0	0.008291	0	0
EFCAB2	84288	broad.mit.edu	37	1	245180564	245180564	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:245180564C>T	uc001ibd.2	+	2	595	c.454C>T	c.(454-456)Cac>Tac	p.H152Y	EFCAB2_uc001ibc.2_Missense_Mutation_p.H16Y|EFCAB2_uc010pyo.1_Missense_Mutation_p.H26Y|EFCAB2_uc010pyp.1_Missense_Mutation_p.H16Y|EFCAB2_uc001ibe.2_Intron			Q5VUJ9	EFCB2_HUMAN	Homo sapiens EF-hand calcium binding domain 2 (EFCAB2), transcript variant 3, non-coding RNA.	152	EF-hand 1.						calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|stomach(2)	13	all_cancers(71;2.93e-06)|all_epithelial(71;2.13e-05)|all_lung(81;0.0337)|Lung NSC(105;0.0472)|Ovarian(71;0.0584)|Breast(184;0.0716)|all_neural(11;0.0982)		OV - Ovarian serous cystadenocarcinoma(106;0.015)			AGCAGAATTTCACAAAAAAAT	0.279000														39			4		0	0	0.001168	0	0
AGAP1	116987	broad.mit.edu	37	2	236957783	236957783	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:236957783C>T	uc002vvs.3	+	15	2570	c.1972C>T	c.(1972-1974)Ctt>Ttt	p.L658F	AGAP1_uc002vvt.3_Missense_Mutation_p.L605F	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	658	Arf-GAP.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGGCACCCACCTTTCCCGAGT	0.557000														71			4		0	0	0.000602	0	0
C1orf200	644997	broad.mit.edu	37	1	9713874	9713874	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr1:9713874G>T	uc001aqc.4	-	1	617	c.467C>A	c.(466-468)aCc>aAc	p.T156N	PIK3CD_uc001aqa.2_Intron|PIK3CD_uc001aqb.4_Intron					Homo sapiens chromosome 1 open reading frame 200 (C1orf200), non-coding RNA.											endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)	9	all_lung(157;0.222)	Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.86e-08)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(185;0.000231)|KIRC - Kidney renal clear cell carcinoma(229;0.000879)|BRCA - Breast invasive adenocarcinoma(304;0.00178)|STAD - Stomach adenocarcinoma(132;0.00331)|READ - Rectum adenocarcinoma(331;0.0419)		ATCTTGGCTGGTGAGAGGCCT	0.512000														115			12		1.05317e-09	1.53647e-09	0.002450	1	0
ABCA3	21	broad.mit.edu	37	16	2334337	2334337	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr16:2334337C>T	uc002cpy.1	-	24	4517	c.3805G>A	c.(3805-3807)Gag>Aag	p.E1269K	ABCA3_uc010bsk.1_Missense_Mutation_p.E1211K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	1269					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CTCCGCGTCTCGTAGTTCTCG	0.577000														42			13		0	0	0.013537	0	0
OR4M1	441670	broad.mit.edu	37	14	20248589	20248589	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:20248589G>A	uc010tku.2	+	0	108	c.108G>A	c.(106-108)ttG>ttA	p.L36L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	36					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)		CCTTCTATTTGTTCATCCTAC	0.433000														198			7		0	0	0.003080	0	0
DNAH9	1770	broad.mit.edu	37	17	11865491	11865491	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr17:11865491A>G	uc002gne.3	+	67	13219	c.13151A>G	c.(13150-13152)aAc>aGc	p.N4384S	DNAH9_uc010coo.3_Missense_Mutation_p.N3602S|DNAH9_uc002gnf.3_Missense_Mutation_p.N696S	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4384					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)		ACGAAGAAGAACAGAGAAGAG	0.547000														50			6		0	0	0.001168	0	0
NRXN1	9378	broad.mit.edu	37	2	50765512	50765512	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr2:50765512C>T	uc021vhh.1	-	8	2943	c.2022G>A	c.(2020-2022)aaG>aaA	p.K674K	NRXN1_uc002rxb.4_Silent_p.K346K|NRXN1_uc021vhg.1_Silent_p.K714K|NRXN1_uc021vhi.1_Silent_p.K710K|NRXN1_uc021vhj.1_Silent_p.K670K|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	674					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)			TTGCTGTTTCCTTTGAGCAGG	0.483000														222			74		0	0	0.014410	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr9:20414340G>A	uc003zoe.2	-	4	763	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_uc011lne.1_Silent_p.S136S|MLLT3_uc011lnf.1_Silent_p.S165S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)|p.S168S(10)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL									25			4		0	0	0.009096	0	0
OR11H12	440153	broad.mit.edu	37	14	19378555	19378555	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:19378555G>A	uc010tkp.2	+	0	962	c.962G>A	c.(961-963)gGa>gAa	p.G321E		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	321					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)		AAAGTTCTGGGAAGTTCCAAC	0.363000														50			13		0	0	0.003163	0	0
PRX	57716	broad.mit.edu	37	19	40901920	40901920	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:40901920G>A	uc002onr.3	-	6	2608	c.2339C>T	c.(2338-2340)cCg>cTg	p.P780L	PRX_uc002onq.3_Missense_Mutation_p.P641L|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	780	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				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)			CTGCACCTCCGGAGCCCTGGG	0.582000														98			10		0	0	0.013537	0	0
CHUK	1147	broad.mit.edu	37	10	101978865	101978865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr10:101978865G>A	uc001kqp.3	-	6	644	c.589C>T	c.(589-591)Cct>Tct	p.P197S		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	197	Protein kinase.				I-kappaB phosphorylation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|IkappaB kinase activity|identical protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		GCTGTGTAAGGCTTATTCTCA	0.393000														60			5		0	0	0.001168	0	0
SNX31	169166	broad.mit.edu	37	8	101625250	101625250	+	Missense_Mutation	SNP	G	A	A	rs146603887	byFrequency	TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr8:101625250G>A	uc003yjr.3	-	5	647	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	SNX31_uc011lha.2_5'Flank|SNX31_uc011lhb.2_Missense_Mutation_p.R67W	NM_152628	NP_689841	Q8N9S9	SNX31_HUMAN	Homo sapiens sorting nexin 31 (SNX31), mRNA.	166					cell communication|protein transport		phosphatidylinositol binding	p.R166W(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTGCCAAACCGAATGAGAAAG	0.493000														53			10		0	0	0.008291	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157909	26157909	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:26157909C>T	uc022bub.1	+	0	807	c.807C>T	c.(805-807)ttC>ttT	p.F269F	MAGEB18_uc004dbq.2_Silent_p.F269F	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	269	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						GCTATGAATTCCTGTGGGGTC	0.502000														13			4		0	0	0.009096	0	0
TRIM42	287015	broad.mit.edu	37	3	140407068	140407068	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr3:140407068T>C	uc003eto.2	+	2	1750	c.1544T>C	c.(1543-1545)aTg>aCg	p.M515T		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	515						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGAAACAATGATTGCCAGG	0.567000														38			11		0	0	0.008291	0	0
MCHR2	84539	broad.mit.edu	37	6	100390835	100390835	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:100390835C>T	uc003pqh.1	-	3	892	c.577G>A	c.(577-579)Gat>Aat	p.D193N	MCHR2_uc003pqi.1_Missense_Mutation_p.D193N	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	193						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)		CAGAGTACATCGTCAGGGGAT	0.408000														31			13		0	0	0.003163	0	0
IGSF1	3547	broad.mit.edu	37	X	130419329	130419329	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chrX:130419329A>C	uc004ewe.4	-	4	774	c.491T>G	c.(490-492)tTt>tGt	p.F164C	IGSF1_uc004ewd.3_Missense_Mutation_p.F164C|IGSF1_uc022cdv.1_Missense_Mutation_p.F155C|IGSF1_uc004ewf.2_Missense_Mutation_p.F144C|IGSF1_uc022cdw.1_Missense_Mutation_p.F164C|IGSF1_uc004ewg.3_Missense_Mutation_p.F164C	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	164	Ig-like C2-type 2.				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						TCCCTCTTTAAACAGCATGAA	0.498000														116			11		0	0	0.008291	0	0
MYH7	4625	broad.mit.edu	37	14	23888691	23888691	+	Splice_Site	SNP	C	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr14:23888691C>A	uc001wjx.3	-	28	3959	c.3853_splice	c.e28+1	p.G1285_splice	MIR208B_uc021rqy.1_5'Flank	NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1285					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTAGGCTCACCATTCTCGGT	0.597000														85			14		1.3612e-06	1.96567e-06	0.003163	1	0
PRKAR1B	5575	broad.mit.edu	37	7	590187	590187	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr7:590187C>T	uc003siu.2	-	10	1159	c.1026G>A	c.(1024-1026)cgG>cgA	p.R342R	PRKAR1B_uc021zyi.1_Silent_p.R342R|PRKAR1B_uc003siv.3_Silent_p.R342R|PRKAR1B_uc021zyj.1_Silent_p.R342R|PRKAR1B_uc021zyk.1_Silent_p.R342R|PRKAR1B_uc003siw.2_Silent_p.R342R	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	342					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)		TGAGGGGCCCCCGGGCCACGA	0.662000														13			3		0	0	0.004672	0	0
TRPC7	57113	broad.mit.edu	37	5	135583221	135583221	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:135583221C>T	uc003lbn.2	-	6	2004	c.1782G>A	c.(1780-1782)atG>atA	p.M594I	TRPC7_uc010jef.2_Missense_Mutation_p.M530I|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.M145I|TRPC7_uc010jeh.2_Missense_Mutation_p.M533I|TRPC7_uc010jei.2_Missense_Mutation_p.M478I	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	594					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACATCCCAATCATGAAGGCCA	0.473000														55			10		0	0	0.008291	0	0
CCDC110	256309	broad.mit.edu	37	4	186381342	186381342	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr4:186381342A>C	uc003ixu.4	-	5	475	c.399T>G	c.(397-399)ttT>ttG	p.F133L	CCDC110_uc003ixv.4_Missense_Mutation_p.F96L|CCDC110_uc011ckt.1_Missense_Mutation_p.F133L	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	133						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGGAATCCTCAAAATGATGAC	0.363000														44			4		0	0	0.009096	0	0
KIRREL2	84063	broad.mit.edu	37	19	36349760	36349760	+	Silent	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr19:36349760C>T	uc002ocb.4	+	3	728	c.516C>T	c.(514-516)ttC>ttT	p.F172F	KIRREL2_uc002obz.4_Silent_p.F172F|KIRREL2_uc002oca.4_Silent_p.F122F|KIRREL2_uc002ocd.4_Silent_p.F169F	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	172	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCCACCTTCCATCAGGTCA	0.557000														52			10		0	0	0.010729	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057780	46057780	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr21:46057780C>T	uc002zfq.3	+	0	508	c.446C>T	c.(445-447)cCt>cTt	p.P149L	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	149	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCTGTGTGCCTGTCTGCTCT	0.617000														180			43		0	0	0.010771	0	0
TNPO1	3842	broad.mit.edu	37	5	72179020	72179021	+	Frame_Shift_Ins	INS	-	A	A			TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr5:72179020_72179021insA	uc003kck.4	+	10	1258_1259	c.1111_1112insA	c.(1111-1113)gaafs	p.E371fs	TNPO1_uc011csi.1_Non-coding_Transcript|TNPO1_uc011csj.1_Frame_Shift_Ins_p.E321fs|TNPO1_uc003kci.4_Frame_Shift_Ins_p.E363fs|TNPO1_uc003kcg.4_Frame_Shift_Ins_p.E363fs	NM_002270	NP_694858	Q92973	TNPO1_HUMAN	Homo sapiens transportin 1 (TNPO1), transcript variant 1, mRNA.	371	Asp/Glu-rich (acidic).				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		tgatgatgatgaaattgatgat	0.396													---	30	---	---	7	---					
C6orf223	221416	broad.mit.edu	37	6	43970503	43970504	+	In_Frame_Ins	INS	-	GCG	GCG	rs72369323		TCGA-ER-A19S-06A-11D-A196-08	TCGA-ER-A19S-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b89f93f-ffb5-4102-89ae-9659e008f873	fc9585d5-2ca8-450a-aad6-b5cbb9a316a7	g.chr6:43970503_43970504insGCG	uc003own.3	+	3	389_390	c.369_370insGCG	c.(367-372)insGCG	p.132_133insA	AK024736_uc003owm.1_Intron|C6orf223_uc003owo.3_3'UTR	NM_153246	NP_694978	Q8N319	CF223_HUMAN	Homo sapiens chromosome 6 open reading frame 223 (C6orf223), transcript variant 1, mRNA.	132	Ala-rich.			A -> AA (in Ref. 2; AAH32706).						central_nervous_system(1)|lung(2)|pancreas(1)|prostate(1)|urinary_tract(1)	6	all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437)		all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217)			CGGTAGAGCGCgcggcggcggc	0.777													---	21	---	---	10	---