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
NOTUM	147111	broad.mit.edu	37	17	79914800	79914800	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:79914800C>T	uc010wvg.2	-	6	1118	c.846G>A	c.(844-846)acG>acA	p.T282T		NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	Homo sapiens notum pectinacetylesterase homolog (Drosophila) (NOTUM), mRNA.	282						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CGCACGTGATCGTGTCGACGC	0.672000														35			8		0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039677	248039677	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:248039677C>T	uc001ido.3	+	5	1395	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F	OR2W3_uc001idp.1_Intron	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	449	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTTACTTTTTCATCTGTGATG	0.423000														67			23		0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48175245	48175245	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:48175245C>T	uc002efc.1	-	2	641	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Non-coding_Transcript|ABCC12_uc002efe.1_Missense_Mutation_p.E99K|ABCC12_uc010vgj.1_Non-coding_Transcript	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	99						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTACCTCTTCATCCCAAAGG	0.498000														79			19		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30700585	30700585	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:30700585G>A	uc003xil.3	-	0	5949	c.5949C>T	c.(5947-5949)caC>caT	p.H1983H		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1983										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAATATCTGGGTGTGCAAGCA	0.338000														13			13		0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007343	6007343	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:6007343C>T	uc001mcd.2	-	0	873	c.818G>A	c.(817-819)gGa>gAa	p.G273E		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGAAAATTCCAGGGACATA	0.512000														34			17		0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89895099	89895099	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:89895099C>T	uc003pna.2	-	6	1181	c.726G>A	c.(724-726)cgG>cgA	p.R242R	GABRR1_uc011dzv.1_Silent_p.R219R	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	242					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			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGAGTGAGATCCGTTCATCTG	0.488000														65			40		0	0	1	0	0
PTK2B	2185	broad.mit.edu	37	8	27288406	27288406	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:27288406G>A	uc003xfn.2	+	12	1491	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	PTK2B_uc022ate.1_Missense_Mutation_p.R228Q|PTK2B_uc003xfp.2_Missense_Mutation_p.R228Q|PTK2B_uc003xfq.2_Missense_Mutation_p.R228Q|PTK2B_uc010luq.1_5'UTR|PTK2B_uc003xfr.1_5'Flank	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	228	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity	p.R228R(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AAACAGTTCCGGAAGATGATC	0.602000														83			24		0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47495300	47495300	+	Nonsense_Mutation	SNP	G	A	A	rs141733590	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:47495300G>A	uc002eev.4	+	0	91	c.39G>A	c.(37-39)tgG>tgA	p.W13*	ITFG1_uc002eet.3_5'Flank|ITFG1_uc010vgh.2_5'Flank|PHKB_uc010vgi.1_5'UTR|PHKB_uc002eeu.4_5'UTR|ITFG1_uc010cbf.1_5'Flank	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	13	Calmodulin-binding (Potential).				glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AAGTGAGCTGGAAGGTCTTGG	0.721000														28			8		0	0	1	0	0
SMYD5	10322	broad.mit.edu	37	2	73450210	73450210	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:73450210C>T	uc002siw.2	+	7	781	c.752C>T	c.(751-753)aCc>aTc	p.T251I	SMYD5_uc010yre.1_Missense_Mutation_p.T135I	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	251	SET.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						CTTGTTGGGACCAATGGCCAA	0.488000														109			33		0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101853572	101853572	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:101853572G>A	uc002bxa.2	-	20	3019	c.2705C>T	c.(2704-2706)cCt>cTt	p.P902L	PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Intron|PCSK6_uc010bpe.3_Intron|PCSK6_uc002bxb.2_Missense_Mutation_p.P889L	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	0	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCGCCAGGAGGACCGTACCT	0.622000														47			10		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20975062	20975062	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:20975062T>G	uc010vbe.2	-	52	10144	c.10144A>C	c.(10144-10146)Atg>Ctg	p.M3382L	DNAH3_uc010vbd.2_Missense_Mutation_p.M817L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3382					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)		TTCTGTTTCATGATGCCGATG	0.502000														55			11		0	0	1	0	0
OR52E8	390079	broad.mit.edu	37	11	5878393	5878393	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5878393G>A	uc010qzr.2	-	0	540	c.540C>T	c.(538-540)atC>atT	p.I180I	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAGTATGAGGGATGATACGAT	0.507000														72			21		0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119732137	119732137	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:119732137G>A	uc002tln.1	+	5	741	c.609G>A	c.(607-609)gaG>gaA	p.E203E	MARCO_uc010yyf.1_Silent_p.E125E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	203	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.G202A(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCAAGGGAGAGGCGGGTGAGT	0.572000														11			5		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791100	95791100	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:95791100G>A	uc001kjk.3	+	1	931	c.297G>A	c.(295-297)gcG>gcA	p.A99A	PLCE1_uc010qnx.2_Silent_p.A99A	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	99					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CAGATTCTGCGAAAAACCTTA	0.388000														20			21		0	0	1	0	0
ATAD2B	54454	broad.mit.edu	37	2	23980650	23980650	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:23980650G>A	uc002rek.4	-	24	4012	c.3716C>T	c.(3715-3717)tCa>tTa	p.S1239L	ATAD2B_uc002rei.4_Missense_Mutation_p.S1234L|ATAD2B_uc010yki.2_Non-coding_Transcript|ATAD2B_uc002rej.4_Missense_Mutation_p.S407L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	Homo sapiens ATPase family, AAA domain containing 2B (ATAD2B), transcript variant 1, mRNA.	1239							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGATTCATTTGAACTTTCCTC	0.458000														30			8		0	0	1	0	0
AKR1C3	8644	broad.mit.edu	37	10	5139719	5139719	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:5139719A>T	uc001ihr.3	+	2	529	c.346A>T	c.(346-348)Att>Ttt	p.I116F	AKR1C3_uc021pml.1_Missense_Mutation_p.I116F|AKR1C3_uc010qap.2_Missense_Mutation_p.I93F|AKR1C3_uc010qaq.1_Missense_Mutation_p.I116F|AKR1C3_uc001ihu.3_Missense_Mutation_p.I116F	NM_003739	NP_003730	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II) (AKR1C3), transcript variant 1, mRNA.	116					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	CCTCTATCTTATTCATTCTCC	0.403000														42			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9077652	9077652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:9077652C>T	uc002mkp.3	-	2	9998	c.9794G>A	c.(9793-9795)gGa>gAa	p.G3265E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3266	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGATGTGGTTCCTGTGGGCAG	0.532000														47			56		0	0	1	0	0
ARMC4	55130	broad.mit.edu	37	10	28260045	28260045	+	Silent	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:28260045A>G	uc009xky.3	-	7	1232	c.1134T>C	c.(1132-1134)aaT>aaC	p.N378N	ARMC4_uc010qds.2_Intron|ARMC4_uc010qdt.2_Silent_p.N70N|ARMC4_uc001itz.3_Silent_p.N378N|ARMC4_uc010qdu.1_Silent_p.N70N	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	378							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACCCTTTGTAATTAACAGTGG	0.328000														26			27		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234590986	234590986	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:234590986G>A	uc002vut.3	+	0	403	c.403G>A	c.(403-405)Gaa>Aaa	p.E135K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.E135K	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	138					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAAATTAGTAGAATACTTAAA	0.353000														107			21		0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833219	168833219	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:168833219G>A	uc011bpj.1	-	7	2844	c.2441C>T	c.(2440-2442)tCc>tTc	p.S814F	MECOM_uc010hwk.1_Missense_Mutation_p.S649F|MECOM_uc003ffj.3_Missense_Mutation_p.S691F|MECOM_uc003ffi.3_Missense_Mutation_p.S626F|MECOM_uc011bpi.1_Missense_Mutation_p.S627F|MECOM_uc003ffn.3_Missense_Mutation_p.S626F|MECOM_uc003ffk.2_Missense_Mutation_p.S626F|MECOM_uc003ffl.2_Missense_Mutation_p.S786F|MECOM_uc011bpk.1_Missense_Mutation_p.S626F|MECOM_uc010hwn.2_Missense_Mutation_p.S814F	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.N814K(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATGCTGCAAGGAACCATCTGA	0.463000														36			9		0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21889741	21889741	+	Missense_Mutation	SNP	G	A	A	rs138587317		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:21889741G>A	uc001bet.3	+	4	693	c.436G>A	c.(436-438)Gag>Aag	p.E146K	ALPL_uc010odo.2_Missense_Mutation_p.E91K|ALPL_uc010odp.2_Missense_Mutation_p.E69K|ALPL_uc010odn.2_Missense_Mutation_p.E94K|ALPL_uc001beu.4_Missense_Mutation_p.E146K	NM_000478	NP_001120973	P05186	PPBT_HUMAN	Homo sapiens alkaline phosphatase, liver/bone/kidney (ALPL), transcript variant 1, mRNA.	146					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.E146K(2)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	CCAGGGGAACGAGGTCACCTC	0.667000														33			13		0	0	1	0	0
RLN1	6013	broad.mit.edu	37	9	5335324	5335324	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:5335324C>G	uc003zjb.1	-	1	612	c.485G>C	c.(484-486)cGa>cCa	p.R162P		NM_006911	NP_008842	P04808	REL1_HUMAN	Homo sapiens relaxin 1 (RLN1), mRNA.	162					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		CACGTAGGGTCGTCTCTTTTT	0.388000														26			545		0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53576271	53576271	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:53576271G>A	uc004dsp.3	-	66	10086	c.9684C>T	c.(9682-9684)tcC>tcT	p.S3228S	HUWE1_uc004dsn.3_Silent_p.S2036S	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3228					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						GCTGCAAGATGGAGAGCAGAC	0.517000														31			30		0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272881	52272881	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:52272881G>A	uc002pxr.3	+	1	1015	c.970G>A	c.(970-972)Gcc>Acc	p.A324T	FPR2_uc002pxs.4_Missense_Mutation_p.A324T|FPR2_uc010epf.3_Missense_Mutation_p.A324T|FPR2_uc021uyp.1_Missense_Mutation_p.A324T	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	324					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.A324A(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TCTGGAGAGGGCCCTGTCTGA	0.567000														42			23		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146997262	146997262	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:146997262G>A	uc003weu.2	+	8	1894	c.1378G>A	c.(1378-1380)Gag>Aag	p.E460K	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	460	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAGTGGCACGAGGTTCGCTT	0.398000										HNSCC(39;0.1)				76			33		0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228482034	228482034	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:228482034C>T	uc009xez.1	+	41	11357	c.11313C>T	c.(11311-11313)atC>atT	p.I3771I	OBSCN_uc001hsn.3_Silent_p.I3771I|OBSCN_uc001hsq.1_Silent_p.I1027I	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3771	Ig-like 38.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTGCAGATCCGTGGCCTGG	0.632000														113			44		0	0	1	0	0
OR4C6	219432	broad.mit.edu	37	11	55433518	55433518	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:55433518G>A	uc010rik.2	+	0	876	c.876G>A	c.(874-876)gtG>gtA	p.V292V		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E291K(1)|p.E291D(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ATGCAGAGGTGAAAAGTGCCA	0.443000														37			8		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	228004923	228004923	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:228004923C>T	uc021vxr.1	-	2	247	c.146G>A	c.(145-147)gGa>gAa	p.G49E	COL4A4_uc021vxs.1_Missense_Mutation_p.G49E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	49	7S domain.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.G48A(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GCAATCTCTTCCTCCACAAGG	0.413000														33			9		0	0	1	0	0
HOXB8	3218	broad.mit.edu	37	17	46692052	46692052	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:46692052G>A	uc002inw.3	-	0	250	c.15C>T	c.(13-15)ttC>ttT	p.F5F		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	5						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						GTGAGTTGACGAAATAAGAGC	0.597000														19			3		0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251997	25251997	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:25251997G>C	uc002dod.4	-	6	2451	c.2044C>G	c.(2044-2046)Cag>Gag	p.Q682E	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.Q478E	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	682					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GCCCTATGCTGTTCCATGTCC	0.378000														44			10		0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24398487	24398487	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:24398487C>T	uc001bin.4	-	23	3148	c.2985G>A	c.(2983-2985)aaG>aaA	p.K995K	MYOM3_uc001bim.4_Silent_p.K652K|MYOM3_uc001bio.3_Silent_p.K995K	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	995								p.L994L(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GACTCAGCTTCTTCAGCTTCT	0.557000														35			10		0	0	1	0	0
CD160	11126	broad.mit.edu	37	1	145699068	145699068	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:145699068C>T	uc001eol.1	-	4	641	c.423G>A	c.(421-423)acG>acA	p.T141T	CD160_uc001eom.1_Silent_p.T32T|CD160_uc010oyz.1_Non-coding_Transcript	NM_007053	NP_008984	O95971	BY55_HUMAN	Homo sapiens CD160 molecule (CD160), mRNA.	141					cell proliferation|cell surface receptor linked signaling pathway|cellular defense response|regulation of immune response	anchored to plasma membrane	MHC class I receptor activity|receptor binding			endometrium(3)|large_intestine(2)|lung(2)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GTTTCAATCCCGTCACTGTGT	0.448000														35			5		0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121357791	121357791	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:121357791C>T	uc003yox.3	+	44	5331	c.5066C>T	c.(5065-5067)cCa>cTa	p.P1689L	COL14A1_uc003yoz.3_Missense_Mutation_p.P654L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1689	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CCAGGGACCCCAGGAGAACGA	0.592000														22			3		0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54685312	54685312	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:54685312C>A	uc021smr.1	+	15	4774	c.4774C>A	c.(4774-4776)Caa>Aaa	p.Q1592K	UNC13C_uc021sms.1_Missense_Mutation_p.Q1594K|UNC13C_uc002acl.3_Missense_Mutation_p.Q424K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1594					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTTTGGCCCCAACTTATTAC	0.383000														18			7		2.0095e-06	2.01531e-06	1	1	0
BIN2	51411	broad.mit.edu	37	12	51717848	51717848	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:51717848G>A	uc001ryg.3	-	0	91	c.39C>T	c.(37-39)ttC>ttT	p.F13F	BIN2_uc009zlz.3_Silent_p.F13F|BIN2_uc001ryh.3_5'UTR|BIN2_uc010sng.2_Intron	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	13						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCTGCTTGGCGAAGAGGCCGG	0.716000														80			13		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11106640	11106640	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:11106640C>T	uc001aru.3	-	2	417	c.385G>A	c.(385-387)Ggg>Agg	p.G129R	MASP2_uc001arv.3_Missense_Mutation_p.G129R|MASP2_uc001arw.3_Missense_Mutation_p.G129R|MASP2_uc001arx.2_Missense_Mutation_p.G129R	NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	129	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GCCTCGAACCCCGTGAACGGC	0.612000														28			6		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56094070	56094070	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:56094070G>A	uc001shh.3	-	4	998	c.778C>T	c.(778-780)Ccg>Tcg	p.P260S	ITGA7_uc001shg.3_Intron|ITGA7_uc010sps.2_Missense_Mutation_p.P163S|ITGA7_uc009znx.3_Intron	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	260					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCAGGGACCGGGATGAGGCGG	0.642000														18			18		0	0	1	0	0
MTUS2	23281	broad.mit.edu	37	13	29608167	29608167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:29608167G>A	uc001usl.4	+	1	2439	c.2381G>A	c.(2380-2382)aGg>aAg	p.R794K		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	784	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCAAAGAGCAGGATTCTGATT	0.517000														44			15		0	0	1	0	0
SRMS	6725	broad.mit.edu	37	20	62173661	62173661	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:62173661G>A	uc002yfi.1	-	4	842	c.801C>T	c.(799-801)ctC>ctT	p.L267L		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	267	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGAGGTCAGTGAGCTTCATGT	0.662000														36			26		0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	6793085	6793085	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:6793085C>T	uc003zkh.3	+	1	677	c.97C>T	c.(97-99)Ctt>Ttt	p.L33F	KDM4C_uc010mhu.2_Missense_Mutation_p.L55F|KDM4C_uc010mhw.3_Missense_Mutation_p.L33F|KDM4C_uc011lmi.1_Missense_Mutation_p.L33F|KDM4C_uc011lmj.1_Non-coding_Transcript|KDM4C_uc003zkg.3_Missense_Mutation_p.L33F|KDM4C_uc011lmk.2_5'UTR|KDM4C_uc010mhv.3_Missense_Mutation_p.L33F	NM_015061	NP_055876	Q9H3R0	KDM4C_HUMAN	Homo sapiens lysine (K)-specific demethylase 4C (KDM4C), transcript variant 1, mRNA.	33	JmjN.				positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAACAAATACCTTGCATACAT	0.463000														52			32		0	0	1	0	0
CKAP4	10970	broad.mit.edu	37	12	106633303	106633303	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:106633303G>A	uc001tlk.3	-	1	1392	c.1308C>T	c.(1306-1308)tcC>tcT	p.S436S		NM_006825	NP_006816	Q07065	CKAP4_HUMAN	Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA.	436						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TGGACAGGAGGGACTCCAGGC	0.672000														57			17		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149502729	149502729	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:149502729C>T	uc003lro.3	-	14	2528	c.2059G>A	c.(2059-2061)Gga>Aga	p.G687R	PDGFRB_uc010jhd.3_Missense_Mutation_p.G526R	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	687	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCAGGTCTCCGTAGCGGCAG	0.607000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									40			27		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142575489	142575489	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:142575489G>A	uc003wbx.2	-	2	493	c.264C>T	c.(262-264)ctC>ctT	p.L88L	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	88					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGTTGTCATAGAGGGCTGCTA	0.577000														106			65		0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198950796	198950796	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:198950796G>A	uc010fsp.3	+	1	2953	c.2555G>A	c.(2554-2556)gGa>gAa	p.G852E	PLCL1_uc002uuv.4_Missense_Mutation_p.G773E	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	852					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AATCGAAGTGGAGGAGGAAAG	0.463000														32			11		0	0	1	0	0
KRT12	3859	broad.mit.edu	37	17	39023413	39023413	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:39023413G>A	uc002hvk.2	-	0	50	c.26C>T	c.(25-27)tCa>tTa	p.S9L		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	9	Head.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				CACTGAGAGTGACATGGTGTT	0.562000														42			9		0	0	1	0	0
PIAS2	9063	broad.mit.edu	37	18	44409801	44409801	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:44409801G>A	uc002lck.3	-	9	1419	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	PIAS2_uc010dnp.3_Missense_Mutation_p.S109F|PIAS2_uc010xda.2_Missense_Mutation_p.S109F|PIAS2_uc002lcl.3_Missense_Mutation_p.S411F|PIAS2_uc002lcm.3_Missense_Mutation_p.S411F	NM_004671	NP_004662	O75928	PIAS2_HUMAN	Homo sapiens protein inhibitor of activated STAT, 2 (PIAS2), transcript variant beta, mRNA.	411					androgen receptor signaling pathway|negative regulation of androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|SUMO ligase activity|androgen receptor binding|protein binding|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						ATCTACATCAGAACAGTCATT	0.348000														63			25		0	0	1	0	0
GDF5	8200	broad.mit.edu	37	20	34025399	34025399	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:34025399G>A	uc010gfc.1	-	0	551	c.310C>T	c.(310-312)Cct>Tct	p.P104S	GDF5_uc002xck.1_Missense_Mutation_p.P104S	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	104					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)			TTGGGTTCAGGGCCGCCCGGT	0.632000														64			14		0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197026243	197026243	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:197026243C>T	uc001gtt.1	-	6	1115	c.1071G>A	c.(1069-1071)ggG>ggA	p.G357G		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	357	Sushi 6.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCACTTTATCCCCATTGTAAT	0.418000														26			9		0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61390629	61390629	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:61390629C>T	uc002ljk.4	+	8	1343	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	SERPINB11_uc010xes.2_Missense_Mutation_p.P217L|SERPINB11_uc010dqd.3_Intron|SERPINB11_uc002ljj.4_Missense_Mutation_p.P278L|SERPINB11_uc010dqe.3_Missense_Mutation_p.P191L|SERPINB11_uc010dqf.3_Missense_Mutation_p.P190L	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	392					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CTTGCCTCTCCCTAATCAGAT	0.498000														65			18		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131520187	131520187	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:131520187G>A	uc021voy.1	+	0	542	c.542G>A	c.(541-543)gGg>gAg	p.G181E	FAM123C_uc002trw.2_Missense_Mutation_p.G181E|FAM123C_uc010fmv.2_Missense_Mutation_p.G181E|FAM123C_uc010fms.1_Missense_Mutation_p.G181E|FAM123C_uc010fmt.1_Missense_Mutation_p.G181E|FAM123C_uc010fmu.1_Missense_Mutation_p.G181E	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	181										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCGGCCGAGGGGAAAAGCCTG	0.647000														91			20		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717364	222717364	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:222717364C>T	uc001hnh.1	-	1	547	c.489G>A	c.(487-489)agG>agA	p.R163R		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	163					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GGGTACCGTCCCTTCCATGAG	0.567000														82			32		0	0	1	0	0
EFCAB7	84455	broad.mit.edu	37	1	63998360	63998360	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:63998360G>C	uc001dbf.3	+	3	713	c.419G>C	c.(418-420)cGa>cCa	p.R140P		NM_032437	NP_115813	A8K855	EFCB7_HUMAN	Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA.	140	EF-hand 2.						calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGATGACTCGAGAAGAAGTA	0.323000														18			4		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10544415	10544415	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:10544415C>T	uc002gmq.2	-	18	2240	c.2152G>A	c.(2152-2154)Gat>Aat	p.D718N		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	718	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTTAAAATCGCCATAGAGA	0.458000														69			20		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140250813	140250813	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140250813C>T	uc003lia.2	+	0	2983	c.2125C>T	c.(2125-2127)Ctc>Ttc	p.L709F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.L709F	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	718					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)			GGTGTCCAGCCTCCTGGTACT	0.672000														42			48		0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151062994	151062994	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:151062994C>T	uc001ewr.2	+	2	552	c.221C>T	c.(220-222)cCc>cTc	p.P74L	GABPB2_uc010pcp.1_Missense_Mutation_p.P90L|GABPB2_uc001ewt.2_5'Flank	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	74					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GACAGGACCCCCTTGCACATG	0.517000														44			18		0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48452292	48452292	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:48452292G>A	uc003csw.2	-	28	5671	c.5401C>T	c.(5401-5403)Cgc>Tgc	p.R1801C	PLXNB1_uc003cst.2_Missense_Mutation_p.R251C|PLXNB1_uc003csu.2_Missense_Mutation_p.R1618C|PLXNB1_uc003csx.2_Missense_Mutation_p.R1801C	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	1801					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	p.R1801C(2)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCAAGGGTGCGAGGGTCTGGC	0.612000														12			7		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176709324	176709324	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:176709324G>A	uc001gkz.3	+	13	5307	c.4143G>A	c.(4141-4143)caG>caA	p.Q1381Q	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1381					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						AGAATCATCAGGGACAGAGGT	0.473000														31			14		0	0	1	0	0
IVL	3713	broad.mit.edu	37	1	152882555	152882555	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152882555G>A	uc021ozl.1	+	0	282	c.282G>A	c.(280-282)caG>caA	p.Q94Q	IVL_uc001fau.3_Silent_p.Q94Q	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	94					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			actgggaacagcaTGAGGAAT	0.488000														31			12		0	0	1	0	0
C2orf77	129881	broad.mit.edu	37	2	170537668	170537668	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:170537668G>A	uc002ufe.2	-	1	237	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	48										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						TGGAATTATGGTGACCTGCTG	0.388000														20			8		0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548282	50548282	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:50548282C>T	uc002prn.3	+	4	819	c.582C>T	c.(580-582)tcC>tcT	p.S194S	ZNF473_uc002prm.3_Silent_p.S194S|ZNF473_uc010ybo.2_Silent_p.S182S	NM_001006656	NP_056243	Q8WTR7	ZN473_HUMAN	Homo sapiens zinc finger protein 473 (ZNF473), transcript variant 2, mRNA.	194					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		TCTCCTACTCCGACCACAGCC	0.473000														31			22		0	0	1	0	0
CECR5	27440	broad.mit.edu	37	22	17622112	17622112	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:17622112G>A	uc002zmf.3	-	5	611	c.583C>T	c.(583-585)Cta>Tta	p.L195L	CECR5_uc002zmh.3_Silent_p.L165L	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 5 (CECR5), transcript variant 2, mRNA.	195							hydrolase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				GGCTCCCCTAGGAGGAGCACC	0.652000														31			16		0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735221	54735221	+	Missense_Mutation	SNP	A	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:54735221A>T	uc003pck.3	+	1	293	c.177A>T	c.(175-177)gaA>gaT	p.E59D		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	59										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTGAGGAAGAAATTAATT	0.383000														76			14		0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114275389	114275389	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:114275389C>T	uc003ibe.4	+	37	5715	c.5615C>T	c.(5614-5616)tCg>tTg	p.S1872L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.S1887L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1839	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCGTCATCATCGAGTAAAACT	0.453000														74			78		0	0	1	0	0
CRISP1	167	broad.mit.edu	37	6	49819840	49819840	+	Silent	SNP	C	T	T	rs138699394	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:49819840C>T	uc003ozw.2	-	2	148	c.69G>A	c.(67-69)aaG>aaA	p.K23K	CRISP1_uc003ozx.2_Silent_p.K23K|CRISP1_uc021zaj.1_Silent_p.K23K	NM_001131	NP_001192149	P54107	CRIS1_HUMAN	Homo sapiens cysteine-rich secretory protein 1 (CRISP1), transcript variant 1, mRNA.	23					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGCTGATTTCTTCTGTTACC	0.333000														36			23		0	0	1	0	0
C18orf26	284254	broad.mit.edu	37	18	52265079	52265079	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:52265079G>A	uc002lfq.1	+	2	382	c.336G>A	c.(334-336)tgG>tgA	p.W112*		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	112						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		GGTCTATGTGGAAAGTCTTCC	0.353000														33			14		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200918	3200918	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:3200918C>T	uc022aqr.1	-	22	3919	c.3529G>A	c.(3529-3531)Gaa>Aaa	p.E1177K	CSMD1_uc011kwj.2_Missense_Mutation_p.E570K|CSMD1_uc003wqe.3_Missense_Mutation_p.E334K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1178	CUB 7.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCCAGAAGTTCATTTTTAGTG	0.453000														36			16		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152527582	152527582	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:152527582G>A	uc021vrb.1	-	35	4490	c.4461C>T	c.(4459-4461)tcC>tcT	p.S1487S	NEB_uc002txu.3_Silent_p.S1487S|NEB_uc021vrc.1_Silent_p.S1487S|NEB_uc010fnx.3_Silent_p.S1487S|NEB_uc021vrd.1_Silent_p.S1487S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1487					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCATGCCCATGGAATCAGGCA	0.478000														32			4		0	0	1	0	0
IL1R2	7850	broad.mit.edu	37	2	102626246	102626246	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:102626246C>A	uc002tbm.3	+	2	519	c.290C>A	c.(289-291)cCa>cAa	p.P97Q	IL1R2_uc002tbn.3_Missense_Mutation_p.P97Q|IL1R2_uc002tbo.1_Missense_Mutation_p.P97Q	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGGCTTCTGCCAGCCTTGCAG	0.592000														157			40		2.24893e-16	2.27185e-16	1	1	0
TRA	0	broad.mit.edu	37	14	22180873	22180873	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:22180873C>T	uc021roz.1	+	1	153	c.145C>T	c.(145-147)Cac>Tac	p.H49Y						Homo sapiens mRNA for T cell receptor alpha variable 2, partial cds, clone: SEB 280.																		CTTCTGTAATCACTCTGTGTC	0.483000														114			37		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457107	110457107	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:110457107C>T	uc003yne.3	+	37	5113	c.5009C>T	c.(5008-5010)tCa>tTa	p.S1670L		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1670	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGCAGGATCAACTACAGGA	0.428000										HNSCC(38;0.096)				88			30		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31425813	31425813	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:31425813C>T	uc010cap.1	+	16	2090	c.2041C>T	c.(2041-2043)Cca>Tca	p.P681S	ITGAD_uc002ebv.1_Missense_Mutation_p.P680S	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	680					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGCACTGGACCCAGGTCGTCT	0.473000														200			38		0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240984604	240984604	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:240984604C>T	uc010zoe.2	-	0	886	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		TTCTTAAATTCCTTATTCCTC	0.478000														122			40		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238283353	238283353	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:238283353C>T	uc002vwl.2	-	7	3666	c.3381G>A	c.(3379-3381)agG>agA	p.R1127R	COL6A3_uc002vwo.2_Silent_p.R921R|COL6A3_uc010znj.1_Silent_p.R520R|COL6A3_uc002vwq.3_Silent_p.R921R|COL6A3_uc002vwr.3_Silent_p.R720R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1127	Nonhelical region.|VWFA 6.				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)		CTTCTGTTATCCTGCTTCCCG	0.657000														51			8		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9063190	9063190	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:9063190G>A	uc002mkp.3	-	2	24460	c.24256C>T	c.(24256-24258)Cca>Tca	p.P8086S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8088	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P8086P(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ATAACCATTGGAGATGTGACT	0.468000														53			13		0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	121958817	121958818	+	Silent	DNP	GC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:121958817_121958818GC>TT	uc001uat.3	-	8	1121_1122	c.1017_1018GC>AA	c.(1015-1020)ctgcgg>ctAAgg	p.339_340LR>LR	KDM2B_uc001uas.3_Silent_p.308_309LR>LR|KDM2B_uc021rfd.1_Silent_p.308_309LR>LR|KDM2B_uc001uau.3_Silent_p.222_223LR>LR|KDM2B_uc021rfe.1_Silent_p.339_340LR>LR|KDM2B_uc001uav.4_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	339	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGTAGATCCGCAGCTGCATGG	0.619000														34			12		0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102235598	102235598	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:102235598G>A	uc001vpb.3	+	5	979	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ITGBL1_uc010agb.3_Missense_Mutation_p.D205N|ITGBL1_uc001vpc.4_Missense_Mutation_p.D113N	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	254	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TACCTGTCACGATGTTGATCC	0.428000														108			41		0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55370819	55370819	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:55370819G>A	uc003xsb.4	+	0	325	c.121G>A	c.(121-123)Gac>Aac	p.D41N		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	41					Wnt receptor signaling pathway|angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CCCCATCGGGGACATGAAGGT	0.741000														16			19		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36052065	36052065	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:36052065G>A	uc003jjz.2	-	2	350	c.218C>T	c.(217-219)tCa>tTa	p.S73L	UGT3A2_uc011cos.2_Missense_Mutation_p.S39L|UGT3A2_uc011cot.2_5'UTR	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	73						integral to membrane	glucuronosyltransferase activity	p.S73*(2)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACTTGATATGATTTTTCTTC	0.299000														13			12		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56468625	56468625	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:56468625G>A	uc021wzo.1	-	0	551	c.411C>T	c.(409-411)tcC>tcT	p.S137S	ERC2_uc003dhr.1_Silent_p.S137S	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	137						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		GCCTCAACATGGAGGGGACCT	0.507000														141			39		0	0	1	0	0
KPNA3	3839	broad.mit.edu	37	13	50296168	50296168	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:50296168G>A	uc001vdj.2	-	8	1064	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F		NM_002267	NP_002258	O00505	IMA3_HUMAN	Homo sapiens karyopherin alpha 3 (importin alpha 4) (KPNA3), mRNA.	217	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus|interspecies interaction between organisms|protein complex assembly	cytoplasm|nuclear pore	nuclear localization sequence binding|protein transporter activity			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		ACGTTCCGAAGGAAGGTGATG	0.478000														52			35		0	0	1	0	0
OSBPL7	114881	broad.mit.edu	37	17	45894686	45894686	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:45894686C>T	uc002ilx.1	-	7	841	c.638G>A	c.(637-639)aGg>aAg	p.R213K	OSBPL7_uc002ilw.1_5'Flank	NM_145798	NP_665741	Q9BZF2	OSBL7_HUMAN	Homo sapiens oxysterol binding protein-like 7 (OSBPL7), transcript variant 1, mRNA.	213					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CTGGAGGAGCCTGTGTAGTTC	0.532000														31			6		0	0	1	0	0
RPL10L	140801	broad.mit.edu	37	14	47120879	47120879	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:47120879G>A	uc001wwg.3	-	0	150	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	21					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R21C(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CGGCAGAAACGAGATTTTGGG	0.547000														107			26		0	0	1	0	0
TULP4	56995	broad.mit.edu	37	6	158902309	158902309	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:158902309G>A	uc003qrf.3	+	7	2831	c.1474G>A	c.(1474-1476)Gat>Aat	p.D492N	TULP4_uc011efo.2_Missense_Mutation_p.D492N|TULP4_uc003qrg.3_Missense_Mutation_p.D492N	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	492					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCGCGGACAGATAGCAAACC	0.602000														23			8		0	0	1	0	0
BMP4	652	broad.mit.edu	37	14	54417129	54417129	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:54417129G>A	uc001xal.4	-	2	1035	c.848C>T	c.(847-849)gCc>gTc	p.A283V	BMP4_uc010aoh.3_Missense_Mutation_p.A283V|BMP4_uc001xao.4_Missense_Mutation_p.A283V|BMP4_uc001xan.4_Missense_Mutation_p.A283V	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	283					BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|SMAD protein signal transduction|activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of MAP kinase activity|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of SMAD protein import into nucleus|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TCGGGTCAAGGCATGGCCCCG	0.617000														69			15		0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73849751	73849751	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:73849751G>A	uc003xzb.3	+	2	2749	c.2161G>A	c.(2161-2163)Gaa>Aaa	p.E721K		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	721					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GAACTTTAAGGAAAATAGAGG	0.527000														107			63		0	0	1	0	0
LRFN4	78999	broad.mit.edu	37	11	66627470	66627470	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:66627470A>C	uc001ojr.3	+	1	2052	c.1712A>C	c.(1711-1713)cAc>cCc	p.H571P	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	571						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCCAAGGCCCAcccgccgcgg	0.731000														16			5		0	0	1	0	0
NRIP3	56675	broad.mit.edu	37	11	9009764	9009764	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:9009764G>A	uc001mhg.2	-	1	354	c.240C>T	c.(238-240)ccC>ccT	p.P80P	NRIP3_uc010rbu.1_Silent_p.P80P	NM_020645	NP_065696	Q9NQ35	NRIP3_HUMAN	Homo sapiens nuclear receptor interacting protein 3 (NRIP3), mRNA.	80					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AAGGGACACGGGGACCGCTTC	0.493000														60			15		0	0	1	0	0
MCF2L2	23101	broad.mit.edu	37	3	183056697	183056697	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:183056697G>A	uc003fli.1	-	4	467	c.377C>T	c.(376-378)cCa>cTa	p.P126L	MCF2L2_uc003flj.1_Missense_Mutation_p.P126L|MCF2L2_uc003flp.1_Missense_Mutation_p.P161L	NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	126	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TAAGTTTCCTGGAAATGCCAC	0.423000														33			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595694	179595694	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:179595694C>T	uc021vsy.1	-	56	14191	c.13966G>A	c.(13966-13968)Gat>Aat	p.D4656N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D1317N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5583	Ig-like 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCCCAACATCATTTTGGACC	0.373000														108			28		0	0	1	0	0
HMGXB4	10042	broad.mit.edu	37	22	35679978	35679978	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:35679978C>T	uc003anl.3	+	5	1413	c.1239C>T	c.(1237-1239)gcC>gcT	p.A413A	HMGXB4_uc003ank.3_Silent_p.A304A	NM_001003681	NP_001003681	Q9UGU5	HMGX4_HUMAN	Homo sapiens HMG box domain containing 4 (HMGXB4), transcript variant 1, mRNA.	413					Wnt receptor signaling pathway|endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway	NURF complex	DNA binding	p.S412L(1)		breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACATGTCGGCCTACCAGGTGT	0.418000														30			21		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030365	6030365	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:6030365G>A	uc001qnm.2	-	2	435	c.363C>T	c.(361-363)atC>atT	p.I121I	ANO2_uc021qtt.1_Silent_p.I125I	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	125						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CATTGGAGACGATAGCCAGCG	0.617000														25			9		0	0	1	0	0
OR5D13	390142	broad.mit.edu	37	11	55541605	55541605	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:55541605G>A	uc010ril.2	+	0	692	c.692G>A	c.(691-693)cGa>cAa	p.R231Q		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231Q(6)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGAAGATGCGATCTGCAAGT	0.423000														54			16		0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28627122	28627123	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:28627122_28627123CC>AT	uc002rma.3	+	1	1060_1061	c.251_252CC>AT	c.(250-252)ccc>cAT	p.P84H	FOSL2_uc021vfg.1_Missense_Mutation_p.P59H|FOSL2_uc010ymi.2_Missense_Mutation_p.P45H	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	84					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S83I(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCCTACAGCCCCCTGCCGGGCC	0.639000														101			29		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	107048718	107048718	+	RNA	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:107048718A>G	uc021ser.1	-	169		c.7312T>C								Parts of antibodies, mostly variable regions.																		CAGGCTGTTCATTTGAAGATA	0.517000														118			77		0	0	1	0	0
PDE4A	5141	broad.mit.edu	37	19	10578249	10578249	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:10578249C>T	uc002moj.2	+	14	2721	c.2613C>T	c.(2611-2613)tcC>tcT	p.S871S	PDE4A_uc021uow.1_Silent_p.S849S|PDE4A_uc002mok.2_Silent_p.S845S|PDE4A_uc002mol.2_Silent_p.S810S|PDE4A_uc002mom.2_Silent_p.S632S|PDE4A_uc002moo.2_3'UTR	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	871					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	AGGACACATCCGCACTCCCAG	0.677000														54			55		0	0	1	0	0
A2M	2	broad.mit.edu	37	12	9266021	9266021	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:9266021C>T	uc001qvk.1	-	1	318	c.205G>A	c.(205-207)Gga>Aga	p.G69R	A2M_uc009zgk.1_5'UTR	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	69					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CTCCTGTTTCCCCTGACAGAC	0.532000														85			25		0	0	1	0	0
DAB1	1600	broad.mit.edu	37	1	57491689	57491689	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:57491689C>T	uc009vzx.1	-	9	1071	c.751G>A	c.(751-753)Gac>Aac	p.D251N	DAB1_uc001cyt.1_Missense_Mutation_p.D249N|DAB1_uc001cyq.1_Missense_Mutation_p.D249N|DAB1_uc001cyr.1_Missense_Mutation_p.D165N|DAB1_uc009vzw.1_Missense_Mutation_p.D233N|DAB1_uc001cys.1_Missense_Mutation_p.D251N	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	284					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGGACATGTCCCCAAAAAGT	0.473000														65			13		0	0	1	0	0
E4F1	1877	broad.mit.edu	37	16	2283156	2283156	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:2283156C>T	uc002cpm.3	+	6	1076	c.1028C>T	c.(1027-1029)tCc>tTc	p.S343F	E4F1_uc010bsi.3_Missense_Mutation_p.S343F|E4F1_uc010bsj.3_Missense_Mutation_p.S343F	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	343					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CAGGAGCTGTCCCTGGGCATG	0.632000														107			41		0	0	1	0	0
ACSM2A	123876	broad.mit.edu	37	16	20476952	20476952	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:20476952C>T	uc010bwe.3	+	3	530	c.291C>T	c.(289-291)ctC>ctT	p.L97L	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Silent_p.L18L|ACSM2A_uc002dhf.4_Silent_p.L97L|ACSM2A_uc002dhg.4_Silent_p.L97L|ACSM2A_uc010vay.2_Silent_p.L18L	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	97					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CCAACGTCCTCTCGGGAGCCT	0.597000														61			13		0	0	1	0	0
ATP1B4	23439	broad.mit.edu	37	X	119496050	119496050	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:119496050G>A	uc004esr.3	+	0	111	c.27G>A	c.(25-27)agG>agA	p.R9R	ATP1B4_uc004esq.3_Silent_p.R9R|ATP1B4_uc011mtx.2_Silent_p.R9R|ATP1B4_uc011mty.2_Silent_p.R9R	NM_001142447	NP_001135919	Q9UN42	AT1B4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 4 polypeptide (ATP1B4), transcript variant 1, mRNA.	9					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	p.R9S(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						GGTCCAGAAGGGCTCCATCCT	0.532000														56			51		0	0	1	0	0
MYO5A	4644	broad.mit.edu	37	15	52672096	52672096	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:52672096C>T	uc002aby.2	-	16	2266	c.2022G>A	c.(2020-2022)gaG>gaA	p.E674E	MYO5A_uc002abx.3_Silent_p.E674E|MYO5A_uc010uge.1_Silent_p.E543E	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	674	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		CTGCCCTCTTCTCATCAAACC	0.488000														59			18		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31601743	31601743	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:31601743G>A	uc002wyj.3	+	4	630	c.436G>A	c.(436-438)Gag>Aag	p.E146K		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	146						extracellular region	lipid binding										CCACGCCAACGAGTTTGATGG	0.597000														34			6		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7528552	7528552	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:7528552C>T	uc010sge.2	-	9	2486	c.2460G>A	c.(2458-2460)gtG>gtA	p.V820V	CD163L1_uc001qsy.3_Silent_p.V810V	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	810	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTGCATGTTTCACTTCAACAC	0.453000														50			27		0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58134494	58134494	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:58134494C>T	uc003djj.2	+	35	6171	c.6006C>T	c.(6004-6006)gcC>gcT	p.A2002A	FLNB_uc010hne.2_Silent_p.A2033A|FLNB_uc003djk.2_Silent_p.A1991A|FLNB_uc010hnf.2_Silent_p.A1978A|FLNB_uc003djl.2_Silent_p.A1822A|FLNB_uc003djm.2_Silent_p.A1809A|FLNB_uc010hng.1_5'Flank	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2002	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TTGGTGACGCCCGCCGAGCCA	0.572000														51			29		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179497692	179497692	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:179497692G>A	uc021vsy.1	-	182	35687	c.35462C>T	c.(35461-35463)tCc>tTc	p.S11821F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S5516F|TTN_uc021vta.1_Missense_Mutation_p.S5449F|TTN_uc021vtb.1_Missense_Mutation_p.S5324F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12748	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTGGAAGGAAACCTCTCC	0.438000														46			18		0	0	1	0	0
TXNRD3NB	645840	broad.mit.edu	37	3	126291210	126291210	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:126291210G>A	uc003ejc.3	-	2	734	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_001039783	NP_001034872	Q6F5E7	TR3N_HUMAN	Homo sapiens thioredoxin reductase 3 neighbor (TXNRD3NB), mRNA.	59										endometrium(1)|large_intestine(2)|skin(2)	5						CCAGGGGACTGGGAAACCCCT	0.552000														61			16		0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39874527	39874527	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:39874527C>T	uc001zkh.3	+	2	380	c.201C>T	c.(199-201)atC>atT	p.I67I		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	67	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of cGMP-mediated signaling|negative regulation of caspase activity|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CCAACCTGATCCCCCCTGTGC	0.622000														44			29		0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19247118	19247118	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:19247118G>A	uc001mpm.3	-	11	2593	c.2071C>T	c.(2071-2073)Ccc>Tcc	p.P691S	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.P691S	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	691					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAAGAGGGAAAATTAACA	0.478000														70			19		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100605139	100605139	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:100605139C>T	uc003dun.3	-	4	596	c.511G>A	c.(511-513)Gat>Aat	p.D171N	ABI3BP_uc003duo.2_Missense_Mutation_p.D164N|ABI3BP_uc003dup.4_Missense_Mutation_p.D164N	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	171	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TTTTCTTTATCCTTTTCTCGA	0.318000														9			6		0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29853387	29853387	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:29853387G>A	uc002dui.3	+	9	1740	c.1588G>A	c.(1588-1590)Gaa>Aaa	p.E530K	BOLA2_uc010bzb.1_Intron|MVP_uc010vdz.2_Non-coding_Transcript|MVP_uc002duj.3_Missense_Mutation_p.E530K|MVP_uc010vea.2_Missense_Mutation_p.E124K	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	530					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CATCACCATCGAAACGGCGGA	0.612000														26			13		0	0	1	0	0
OR10H2	26538	broad.mit.edu	37	19	15839084	15839084	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:15839084C>T	uc002nbm.2	+	0	251	c.231C>T	c.(229-231)atC>atT	p.I77I		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CCGTGGCCATCATCCCGCGCA	0.622000														72			42		0	0	1	0	0
XPR1	9213	broad.mit.edu	37	1	180651525	180651525	+	Missense_Mutation	SNP	G	T	T	rs150022313		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:180651525G>T	uc001goi.3	+	1	291	c.99G>T	c.(97-99)caG>caT	p.Q33H	XPR1_uc009wxm.2_Missense_Mutation_p.Q33H|XPR1_uc009wxn.3_Missense_Mutation_p.Q33H	NM_004736	NP_004727	Q9UBH6	XPR1_HUMAN	Homo sapiens xenotropic and polytropic retrovirus receptor 1 (XPR1), transcript variant 1, mRNA.	33	SPX.					integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						ATTCAGCTCAGGACCAGGCAC	0.333000														32			8		3.09899e-07	3.11695e-07	1	1	0
MYRIP	25924	broad.mit.edu	37	3	40291797	40291797	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:40291797G>A	uc003cka.3	+	13	2482	c.2347G>A	c.(2347-2349)Gat>Aat	p.D783N	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.D718N|MYRIP_uc010hhw.3_Missense_Mutation_p.D694N|MYRIP_uc011ayz.2_Missense_Mutation_p.D596N|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	783	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AAGAAGACGGGATCAGAAGCA	0.433000														16			16		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77396068	77396068	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:77396068C>T	uc002ffc.4	-	6	1569	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ADAMTS18_uc010chc.1_5'UTR|ADAMTS18_uc002ffe.1_Missense_Mutation_p.D80N|ADAMTS18_uc010vni.1_Intron	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	384	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						ATGGCATGATCATGTCTCTTG	0.418000														24			12		0	0	1	0	0
SMG1	23049	broad.mit.edu	37	16	18863469	18863469	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:18863469G>A	uc002dfm.3	-	32	5335	c.4972C>T	c.(4972-4974)Cca>Tca	p.P1658S	SMG1_uc010bwb.3_Missense_Mutation_p.P1518S|SMG1_uc010bwa.3_Missense_Mutation_p.P389S|SMG1_uc021ted.1_5'Flank	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1658	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ATAGTGTCTGGAAGTAGATTC	0.433000														59			29		0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111420	7111420	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:7111420G>A	uc001mfc.2	+	0	1256	c.1069G>A	c.(1069-1071)Ggc>Agc	p.G357S		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	357	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	RNA binding|nucleotide binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGGAAAGGGGCTGCCCTCC	0.667000														11			10		0	0	1	0	0
LRRC6	23639	broad.mit.edu	37	8	133627307	133627307	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:133627307G>A	uc003ytk.3	-	7	1025	c.951C>T	c.(949-951)atC>atT	p.I317I	LRRC6_uc022bbp.1_Silent_p.I317I|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	317	CS.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGTCCAGGATGATCTGCTTTT	0.318000														22			7		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968854	28968854	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:28968854G>A	uc002kwr.2	+	4	525	c.390G>A	c.(388-390)ctG>ctA	p.L130L	DSG4_uc002kwq.2_Silent_p.L130L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	130	Cadherin 1.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCCGGGCTCTGAATTCACGGG	0.378000														44			16		0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137776576	137776576	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:137776576C>T	uc003vtz.3	+	2	411	c.324C>T	c.(322-324)gtC>gtT	p.V108V	AKR1D1_uc011kqd.1_Intron|AKR1D1_uc011kqb.1_Silent_p.V108V|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Silent_p.V108V|AKR1D1_uc011kqe.1_Silent_p.V108V|AKR1D1_uc010lmy.1_Non-coding_Transcript	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	108					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						CACTCAGGGTCCTCCAGCTAG	0.483000														46			21		0	0	1	0	0
LRFN2	57497	broad.mit.edu	37	6	40399596	40399596	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:40399596T>A	uc003oph.1	-	1	1722	c.1257A>T	c.(1255-1257)aaA>aaT	p.K419N		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	419	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane		p.P418S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCGGGGGGCTTTTGGGAGGCT	0.652000														84			12		0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49940747	49940747	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:49940747G>A	uc003cxy.4	-	0	560	c.296C>T	c.(295-297)cCt>cTt	p.P99L	MST1R_uc011bdc.2_Missense_Mutation_p.P99L|MST1R_uc011bdd.2_Missense_Mutation_p.P99L|MST1R_uc011bde.1_Missense_Mutation_p.P99L|MST1R_uc011bdf.1_Missense_Mutation_p.P99L|MST1R_uc011bdg.2_Missense_Mutation_p.P99L	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	99	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CTGGCAGCCAGGGTCTCCAGC	0.642000														43			57		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43234008	43234008	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:43234008C>T	uc002oue.3	-	3	1042	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	304	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTCCTGTTTCATTTCTCGTG	0.488000														74			37		0	0	1	0	0
PRR23C	389152	broad.mit.edu	37	3	138762903	138762903	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:138762903C>T	uc011bmt.1	-	0	832	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_001134657	NP_001128129	Q6ZRP0	PR23C_HUMAN	Homo sapiens proline rich 23C (PRR23C), mRNA.	187								p.S187S(1)		breast(2)|lung(7)|skin(2)	11						CCGGTAGGGGCTGAACATACT	0.652000														23			4		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152506890	152506890	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:152506890G>A	uc021vrb.1	-	51	7260	c.7231C>T	c.(7231-7233)Cta>Tta	p.L2411L	NEB_uc002txu.3_Silent_p.L2411L|NEB_uc021vrc.1_Silent_p.L2411L|NEB_uc010fnx.3_Silent_p.L2411L|NEB_uc021vrd.1_Silent_p.L2411L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2411					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATTTATATAGATTCTGTGAA	0.418000														26			6		0	0	1	0	0
FAH	2184	broad.mit.edu	37	15	80450417	80450417	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:80450417G>A	uc002bfm.2	+	1	261	c.97G>A	c.(97-99)Ggt>Agt	p.G33S	FAH_uc002bfn.2_5'UTR|FAH_uc010unl.2_Missense_Mutation_p.G33S	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	33					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCGAGGATAGGTGTGGCCAT	0.522000									Tyrosinemia, type 1					67			52		0	0	1	0	0
WDPCP	51057	broad.mit.edu	37	2	63631766	63631766	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:63631766C>T	uc002sch.3	-	9	1314	c.852G>A	c.(850-852)tgG>tgA	p.W284*	WDPCP_uc002sce.3_Non-coding_Transcript|WDPCP_uc002scf.3_Nonsense_Mutation_p.W125*|WDPCP_uc010ypu.2_Non-coding_Transcript|WDPCP_uc002scg.3_Nonsense_Mutation_p.W92*|WDPCP_uc002sci.2_Nonsense_Mutation_p.W260*|WDPCP_uc010fcr.1_Nonsense_Mutation_p.W174*	NM_015910	NP_056994	O95876	FRITZ_HUMAN	Homo sapiens WD repeat containing planar cell polarity effector (WDPCP), mRNA.	284					cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						CCAGTGGGTCCCATTCTGTGC	0.448000														54			11		0	0	1	0	0
DSC1	1823	broad.mit.edu	37	18	28721967	28721967	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:28721967C>A	uc002kwn.3	-	8	1517	c.1255G>T	c.(1255-1257)Gtc>Ttc	p.V419F	DSC1_uc002kwm.3_Missense_Mutation_p.V419F	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	419	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTACCTTGACAACACACAGC	0.323000														30			4		0.150653	0.150653	1	1	0
PXK	54899	broad.mit.edu	37	3	58385103	58385103	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:58385103C>T	uc003djz.1	+	12	1280	c.1181_splice	c.e12+1	p.P394_splice	PXK_uc003djx.1_Splice_Site_p.P394_splice|PXK_uc003dka.1_Splice_Site_p.P394_splice|PXK_uc003dkb.1_Splice_Site_p.P311_splice|PXK_uc003dkc.1_Splice_Site_p.P377_splice|PXK_uc011bfe.1_Splice_Site_p.P361_splice|PXK_uc010hnj.1_Splice_Site_p.P361_splice|PXK_uc003dkd.1_Splice_Site_p.P257_splice|PXK_uc010hnk.1_Splice_Site_p.P168_splice	NM_017771	NP_060241	Q7Z7A4	PXK_HUMAN	Homo sapiens PX domain containing serine/threonine kinase (PXK), mRNA.	394	Protein kinase.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	ATP binding|actin binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTTACAGATGCCGTAAGTCAA	0.448000														17			6		0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115223067	115223067	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:115223067G>A	uc001efe.2	-	5	727	c.679C>T	c.(679-681)Ccc>Tcc	p.P227S	AMPD1_uc001eff.2_Missense_Mutation_p.P223S	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	194					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GTTCGGAAGGGGTCCTCTCCC	0.413000														48			17		0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178822911	178822911	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:178822911C>T	uc001gma.3	-	3	1311	c.835G>A	c.(835-837)Gac>Aac	p.D279N	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.D279N|ANGPTL1_uc010pnc.1_Missense_Mutation_p.D201N	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	279	Fibrinogen C-terminal.					extracellular space	receptor binding	p.D279E(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TGCTGACAGTCTTTGAATGGT	0.333000														38			10		0	0	1	0	0
RSPH6A	81492	broad.mit.edu	37	19	46307996	46307996	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:46307996C>T	uc002pdm.3	-	2	1338	c.1167G>A	c.(1165-1167)gaG>gaA	p.E389E	RSPH6A_uc002pdl.3_Silent_p.E125E	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	389	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						cgccctcctcctcgccgtgcg	0.672000														12			14		0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44302605	44302605	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:44302605G>A	uc003tkq.2	-	3	430	c.220_splice	c.e3+1	p.V74_splice	CAMK2B_uc003tkp.2_Splice_Site_p.V74_splice|CAMK2B_uc003tkr.2_Splice_Site_p.V74_splice|CAMK2B_uc003tks.2_Splice_Site_p.V74_splice|CAMK2B_uc003tku.2_Splice_Site_p.V74_splice|CAMK2B_uc003tkv.2_Splice_Site_p.V74_splice|CAMK2B_uc003tkt.2_Splice_Site_p.V74_splice|CAMK2B_uc003tkw.2_Splice_Site_p.V74_splice|CAMK2B_uc010kyc.2_Splice_Site_p.V74_splice	NM_001220	NP_001211	Q13554	KCC2B_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II beta (CAMK2B), transcript variant 1, mRNA.	74	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						GCTGCTCACCGATGTTGGAAT	0.577000														42			32		0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104118760	104118760	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:104118760G>A	uc001tjw.3	+	44	4877	c.4691G>A	c.(4690-4692)gGc>gAc	p.G1564D	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1564	EGF-like 14.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGAAAAATGGCGGCTGTAGT	0.463000														116			45		0	0	1	0	0
ANGPT1	284	broad.mit.edu	37	8	108359238	108359238	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:108359238C>T	uc003ymn.3	-	1	853	c.385G>A	c.(385-387)Gag>Aag	p.E129K	ANGPT1_uc003ymo.3_Missense_Mutation_p.E129K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	129					Tie receptor signaling pathway|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of ERK1 and ERK2 cascade|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GTTCCTATCTCCAGCATGGTA	0.507000														87			24		0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167033611	167033611	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:167033611C>T	uc011bpc.2	-	14	1538	c.1201G>A	c.(1201-1203)Gaa>Aaa	p.E401K	ZBBX_uc003feq.3_Missense_Mutation_p.E372K|ZBBX_uc003fep.3_Missense_Mutation_p.E401K	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	401						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AATTCCTCTTCATAAGTCtta	0.269000														17			7		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20570656	20570656	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:20570656G>A	uc002dhj.4	-	3	501	c.291C>T	c.(289-291)ctC>ctT	p.L97L	ACSM2B_uc002dhk.4_Silent_p.L97L|ACSM2B_uc010bwf.1_Silent_p.L97L	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	97					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGGCTCCCGAGAGGATGTTGG	0.587000														11			7		0	0	1	0	0
POM121L12	285877	broad.mit.edu	37	7	53103599	53103599	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:53103599G>A	uc003tpz.3	+	0	251	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	79								p.E79K(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCACCTCATCGAGGTGCGGCC	0.711000														39			20		0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123444828	123444828	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:123444828C>T	uc003ego.3	-	11	1896	c.1614G>A	c.(1612-1614)cgG>cgA	p.R538R	MYLK_uc011bjw.2_Silent_p.R538R|MYLK_uc003egp.3_Silent_p.R469R|MYLK_uc003egq.3_Silent_p.R538R|MYLK_uc003egr.3_Silent_p.R469R|MYLK_uc003egs.3_Silent_p.R362R	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	538	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTGGGGTCCCCCGTACGGAGC	0.627000														24			13		0	0	1	0	0
DMBT1	1755	broad.mit.edu	37	10	124390621	124390621	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:124390621G>A	uc001lgk.1	+	45	5889	c.5783G>A	c.(5782-5784)gGg>gAg	p.G1928E	DMBT1_uc001lgl.1_Missense_Mutation_p.G1918E|DMBT1_uc001lgm.1_Missense_Mutation_p.G1300E|DMBT1_uc021qaf.1_Missense_Mutation_p.G1928E|DMBT1_uc021qag.1_Missense_Mutation_p.G1918E|DMBT1_uc021qah.1_Missense_Mutation_p.G1300E|DMBT1_uc009xzz.1_Missense_Mutation_p.G1928E|DMBT1_uc010qtx.1_Missense_Mutation_p.G648E|DMBT1_uc009yab.1_Missense_Mutation_p.G631E|DMBT1_uc009yac.1_Missense_Mutation_p.G222E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1928	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGACAGCTAGGGTGTGGACGT	0.552000														18			12		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61959824	61959824	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:61959824G>A	uc011aau.2	+	33	3855	c.3755G>A	c.(3754-3756)cGt>cAt	p.R1252H	COL20A1_uc011aav.2_Missense_Mutation_p.R1079H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1252					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GAATGGGGGCGTGGTGGCCGC	0.706000														37			11		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40936494	40936494	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:40936494G>A	uc003gvn.3	-	9	1863	c.1233C>T	c.(1231-1233)atC>atT	p.I411I	APBB2_uc010ifu.3_5'UTR|APBB2_uc003gvl.3_Silent_p.I410I|APBB2_uc003gvm.3_Silent_p.I389I|APBB2_uc011byt.1_Silent_p.I372I	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	410					cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGTCACTGTTGATACTACAAG	0.388000														14			21		0	0	1	0	0
C12orf10	60314	broad.mit.edu	37	12	53700517	53700517	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:53700517G>A	uc001scp.4	+	5	871	c.819G>A	c.(817-819)aaG>aaA	p.K273K	C12orf10_uc009zmx.3_Silent_p.K222K|C12orf10_uc001scq.4_Silent_p.K158K	NM_021640	NP_067653	Q86UA3	Q86UA3_HUMAN	Homo sapiens chromosome 12 open reading frame 10 (C12orf10), mRNA.	273								p.W272R(1)		cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						GTCCCTGGAAGGAGCATCTCT	0.532000														51			45		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830710	830710	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:830710G>A	uc002cjz.1	-	2	291	c.291C>T	c.(289-291)ccC>ccT	p.P97P		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGTGTGCATGGGTAGGTGAC	0.582000														110			73		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45059500	45059500	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:45059500G>A	uc001zuf.2	+	7	1928	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I	TRIM69_uc001zug.1_Missense_Mutation_p.V345I|TRIM69_uc001zuh.1_Missense_Mutation_p.V186I|TRIM69_uc001zui.1_Missense_Mutation_p.V141I|TRIM69_uc010bdy.1_Missense_Mutation_p.V124I	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	345	B30.2/SPRY.				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCAAACCAGCGTCTGGCATGG	0.473000														97			20		0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4432028	4432028	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:4432028G>A	uc021tch.1	+	0	1150	c.1150G>A	c.(1150-1152)Gag>Aag	p.E384K	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Missense_Mutation_p.E384K	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	384			E -> A (in dbSNP:rs3810818).			extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						TAGCCCCACAGAGCCGGCCAC	0.692000														11			14		0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220284867	220284867	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:220284867C>T	uc002vll.3	+	1	715	c.629C>T	c.(628-630)gCc>gTc	p.A210V		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	210	Coil 1B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton	p.A209S(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATTTGGCTGCCTTCCGAGCG	0.572000														55			14		0	0	1	0	0
PLD1	5337	broad.mit.edu	37	3	171452666	171452666	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:171452666G>A	uc003fhs.3	-	4	876	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	PLD1_uc003fht.3_Missense_Mutation_p.L177F	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	177	PX.				Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTCTACCAAGGAATTGTTCT	0.438000														82			39		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	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			20		0	0	1	0	0
ANO9	338440	broad.mit.edu	37	11	433424	433424	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:433424G>A	uc001lpi.2	-	3	325	c.240C>T	c.(238-240)atC>atT	p.I80I	ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	80						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGTCAGCACGGATCCCAAAGA	0.642000														48			26		0	0	1	0	0
FAM71A	149647	broad.mit.edu	37	1	212799401	212799401	+	RNA	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:212799401C>T	uc010pth.1	-	0		c.713G>A			FAM71A_uc001hjk.3_Silent_p.P394P			Q8IYT1	FA71A_HUMAN	Homo sapiens cDNA FLJ40118 fis, clone TESTI2009412.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CGGGACCTCCCGTCTCCACCC	0.627000														43			8		0	0	1	0	0
TRBV25-1	28562	broad.mit.edu	37	7	142378962	142378962	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:142378962G>A	uc003waa.1	+	1	230	c.230G>A	c.(229-231)gGa>gAa	p.G77E	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					SubName: Full=V_segment translation product; Flags: Fragment;																		ACAGAGAAGGGAGATCTTTCC	0.478000														72			37		0	0	1	0	0
LPA	4018	broad.mit.edu	37	6	160978466	160978466	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:160978466G>A	uc003qtl.3	-	29	4889	c.4769C>T	c.(4768-4770)cCc>cTc	p.P1590L		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4098	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.P1590L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AACAACAGTGGGAGTCTCTAG	0.473000														58			18		0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100150977	100150977	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:100150977C>T	uc003uvf.3	+	3	575	c.439C>T	c.(439-441)Ccc>Tcc	p.P147S	AGFG2_uc003uvg.1_Intron	NM_006076	NP_006067	O95081	AGFG2_HUMAN	Homo sapiens ArfGAP with FG repeats 2 (AGFG2), mRNA.	147	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AAGGTATGTCCCCCCAGACCA	0.522000														39			48		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90472215	90472215	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:90472215G>A	uc003pnn.1	-	15	2295	c.2179C>T	c.(2179-2181)Ccc>Tcc	p.P727S	MDN1_uc003pno.1_Missense_Mutation_p.P145S	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	727					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCCGTAAGGGTAGCCAAATA	0.413000														49			13		0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152329201	152329201	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152329201C>T	uc001ezw.4	-	2	1134	c.1061G>A	c.(1060-1062)gGa>gAa	p.G354E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	354	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTCCATATCCTCTCTGACT	0.507000														69			23		0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8248693	8248693	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:8248693C>T	uc002gle.1	+	1	669	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	163					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CATGCTATTCCCCATTAACAT	0.483000														138			39		0	0	1	0	0
PDGFRB	5159	broad.mit.edu	37	5	149497193	149497194	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:149497193_149497194GG>AA	uc003lro.3	-	21	3593_3594	c.3124_3125CC>TT	c.(3124-3126)ccc>TTc	p.P1042F	PDGFRB_uc010jhd.3_Missense_Mutation_p.P881F	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1042					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGCTAGGCTGGGGGAACCCTCC	0.619000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""									24			27		0	0	1	0	0
TACR2	6865	broad.mit.edu	37	10	71174726	71174726	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:71174726C>T	uc001jpn.2	-	1	1157	c.562G>A	c.(562-564)Gac>Aac	p.D188N		NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	188					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CCCCCGCTGTCTTCGGGCCAG	0.627000														80			61		0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255635	77255635	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:77255635G>A	uc001xsv.3	-	9	2062	c.1949C>T	c.(1948-1950)cCc>cTc	p.P650L	AK125727_uc001xsu.1_5'Flank	NM_015305	NP_056120	Q9UNK9	ANGE1_HUMAN	Homo sapiens angel homolog 1 (Drosophila) (ANGEL1), mRNA.	650										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		AGAGCAGAAGGGGTTGGGTAA	0.567000														136			26		0	0	1	0	0
HEATR6	63897	broad.mit.edu	37	17	58121158	58121158	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:58121158G>A	uc002iyk.1	-	19	3329	c.3312C>T	c.(3310-3312)tcC>tcT	p.S1104S	MIR4737_uc021uba.1_5'Flank|HEATR6_uc010ddk.1_Silent_p.S643S|HEATR6_uc010wos.1_Silent_p.S824S	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	1104							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			GTAGAATATAGGACTGGACCA	0.493000														53			17		0	0	1	0	0
GKN2	200504	broad.mit.edu	37	2	69174358	69174358	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:69174358C>T	uc002sfa.3	-	3	345	c.236G>A	c.(235-237)aGa>aAa	p.R79K	GKN2_uc002sfb.4_Missense_Mutation_p.R79K	NM_182536	NP_872342	Q86XP6	GKN2_HUMAN	Homo sapiens gastrokine 2 (GKN2), mRNA.	79	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AAAGCAGGCTCTTCGGGAGAG	0.483000														47			12		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196952150	196952150	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:196952150C>T	uc001gts.4	+	1	322	c.194C>T	c.(193-195)tCc>tTc	p.S65F		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	65	Sushi 1.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCTTCAAAATCCTTTTGGACT	0.388000														38			13		0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211538796	211538796	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:211538796C>T	uc010psx.2	+	7	893	c.808C>T	c.(808-810)Caa>Taa	p.Q270*	TRAF5_uc001hih.3_Nonsense_Mutation_p.Q259*|TRAF5_uc001hii.3_Nonsense_Mutation_p.Q259*|TRAF5_uc010psy.2_Nonsense_Mutation_p.Q153*|TRAF5_uc001hij.3_Nonsense_Mutation_p.Q259*	NM_001033910	NP_665702	O00463	TRAF5_HUMAN	Homo sapiens TNF receptor-associated factor 5 (TRAF5), transcript variant 3, mRNA.	259					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		AAAGAATGTCCAATTAGAAGA	0.388000														14			6		0	0	1	0	0
FAM213A	84293	broad.mit.edu	37	10	82185723	82185723	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:82185723C>T	uc021pux.1	+	3	502	c.372C>T	c.(370-372)ttC>ttT	p.F124F	FAM213A_uc001kcc.4_Silent_p.F124F|FAM213A_uc001kcd.4_Silent_p.F113F|FAM213A_uc001kcf.4_Silent_p.F124F|FAM213A_uc001kce.4_Silent_p.F124F|FAM213A_uc021puy.1_Silent_p.F120F	NM_001243779	NP_001230708	Q9BRX8	CJ058_HUMAN	Homo sapiens chromosome 10 open reading frame 58 (C10orf58), transcript variant 3, mRNA.	124						extracellular region											TGAAGGATTTCCAGCCTTATT	0.498000														55			45		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903592	5903592	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:5903592G>A	uc002wmg.3	+	3	1108	c.802G>A	c.(802-804)Gaa>Aaa	p.E268K	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	268						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAAGGTGAGGAAGATGCCAC	0.607000														20			9		0	0	1	0	0
CXCR2	3579	broad.mit.edu	37	2	218999652	218999652	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:218999652C>T	uc002vgz.2	+	3	338	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CXCR2_uc002vha.2_Missense_Mutation_p.S43F|CXCR2_uc002vhb.2_Missense_Mutation_p.S43F|CXCR2_uc021vwp.1_Missense_Mutation_p.S43F	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	43					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GAACCAGAATCCCTGGAAATC	0.458000														110			33		0	0	1	0	0
FRMD1	79981	broad.mit.edu	37	6	168462535	168462535	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:168462535G>A	uc003qwo.4	-	7	1062	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	FRMD1_uc003qwm.4_Missense_Mutation_p.R127C|FRMD1_uc011egs.2_Missense_Mutation_p.R104C|FRMD1_uc011egt.2_Missense_Mutation_p.R268C|FRMD1_uc003qwn.4_Missense_Mutation_p.R265C	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	333	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCGCACGCGGAGGTGGAGC	0.697000														10			4		0	0	1	0	0
CDH22	64405	broad.mit.edu	37	20	44845508	44845508	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:44845508G>A	uc002xrm.2	-	3	1194	c.795C>T	c.(793-795)atC>atT	p.I265I	CDH22_uc010ghk.1_Silent_p.I265I|CDH22_uc002xrn.2_Silent_p.I16I	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	265	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGTGACTACGATGGTGACGG	0.627000														113			23		0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	860229	860229	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:860229G>A	uc003gbm.4	-	21	3165	c.2966C>T	c.(2965-2967)tCt>tTt	p.S989F	GAK_uc003gbn.4_Missense_Mutation_p.S910F|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.S842F	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	989					cell cycle	Golgi apparatus|focal adhesion|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GACGGTCACAGAGTCCGAATT	0.622000														35			38		0	0	1	0	0
DPYSL2	1808	broad.mit.edu	37	8	26481725	26481725	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:26481725C>T	uc003xfb.2	+	3	811	c.380C>T	c.(379-381)gCc>gTc	p.A127V	DPYSL2_uc003xfa.3_Missense_Mutation_p.A232V|DPYSL2_uc011lag.2_Missense_Mutation_p.A127V|DPYSL2_uc011lah.2_Missense_Mutation_p.A91V	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	127					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGGAATGGGCCGACAGCAAG	0.527000														52			34		0	0	1	0	0
NOLC1	9221	broad.mit.edu	37	10	103916802	103916802	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:103916802C>T	uc001kup.2	+	1	382	c.147C>T	c.(145-147)tcC>tcT	p.S49S	NOLC1_uc001kuo.2_Silent_p.S49S|NOLC1_uc001kuq.2_Silent_p.S49S|NOLC1_uc009xxb.1_5'UTR|NOLC1_uc001kur.2_Intron	NM_004741	NP_004732	Q14978	NOLC1_HUMAN	Homo sapiens nucleolar and coiled-body phosphoprotein 1 (NOLC1), mRNA.	49					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	p.S49S(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		ATGCCTCTTCCCTCTTAGACA	0.433000														75			83		0	0	1	0	0
KCNJ18	100134444	broad.mit.edu	37	17	21319489	21319489	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:21319489C>T	uc021tss.1	+	2	1205	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	KCNJ18_uc002gyv.1_Missense_Mutation_p.P279S|KCNJ18_uc021tst.1_Missense_Mutation_p.P279S	NM_001194958	NP_001181887	B7U540	IRK18_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 18 (KCNJ18), mRNA.	279						integral to membrane	inward rectifier potassium channel activity										CGAGGCCAGCCCGCTCTTCGG	0.607000														71			13		0	0	1	0	0
INHA	3623	broad.mit.edu	37	2	220440068	220440068	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:220440068C>T	uc002vmk.2	+	1	1064	c.921C>T	c.(919-921)gtC>gtT	p.V307V		NM_002191	NP_002182	P05111	INHA_HUMAN	Homo sapiens inhibin, alpha (INHA), mRNA.	307					cell cycle arrest|cell surface receptor linked signaling pathway|cell-cell signaling|erythrocyte differentiation|hemoglobin biosynthetic process|induction of apoptosis|negative regulation of B cell differentiation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|regulation of cell proliferation|response to external stimulus|skeletal system development	inhibin A complex|inhibin-betaglycan-ActRII complex	cytokine activity|growth factor activity|hormone activity|signal transducer activity			large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10		Renal(207;0.0183)		Epithelial(149;4.58e-07)|all cancers(144;4.31e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCTTCCAGTCCCTGGGGCTC	0.632000														106			34		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7224974	7224974	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7224974G>A	uc002gga.1	-	17	3011	c.3004C>T	c.(3004-3006)Cgg>Tgg	p.R1002W	GPS2_uc002gfy.1_5'Flank|GPS2_uc002gfz.1_5'Flank|GPS2_uc002ggb.1_Missense_Mutation_p.R1000W|GPS2_uc002ggc.1_Missense_Mutation_p.R348W	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTCTTCGTCCGGAGCTCTGGC	0.647000														69			18		0	0	1	0	0
PRIC285	85441	broad.mit.edu	37	20	62191413	62191413	+	Missense_Mutation	SNP	G	A	A	rs147749912		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:62191413G>A	uc002yfm.2	-	18	8585	c.7693C>T	c.(7693-7695)Cgc>Tgc	p.R2565C	PRIC285_uc002yfl.1_Missense_Mutation_p.R1996C	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	2565					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GCACAGGTGCGGACGGTGCTC	0.667000														44			8		0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26138145	26138145	+	Silent	SNP	G	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:26138145G>T	uc001uqk.3	+	15	1591	c.1449G>T	c.(1447-1449)ctG>ctT	p.L483L	ATP8A2_uc010tdi.2_Silent_p.L443L|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc001uql.1_Silent_p.L443L	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	443					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACCCCAGGCTGTTGAAGAACA	0.388000														51			21		1.55469e-16	1.57282e-16	1	1	0
GJA5	2702	broad.mit.edu	37	1	147230292	147230292	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:147230292C>T	uc021ovl.1	-	0	1055	c.1055G>A	c.(1054-1056)aGg>aAg	p.R352K	GJA5_uc001eps.1_Missense_Mutation_p.R352K|GJA5_uc001ept.1_Missense_Mutation_p.R352K	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	352					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GTCATCTGACCTTGCCTTGCT	0.537000														51			12		0	0	1	0	0
CRNN	49860	broad.mit.edu	37	1	152383101	152383101	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152383101G>A	uc001ezx.2	-	2	531	c.457C>T	c.(457-459)Cag>Tag	p.Q153*		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	153	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGGGTCTGAACCCCAGGC	0.602000														184			49		0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42427595	42427595	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:42427595G>A	uc002igp.1	+	5	569	c.350_splice	c.e5-1	p.G117_splice	GRN_uc002igq.1_3'UTR	NM_002087	NP_002078	P28799	GRN_HUMAN	Homo sapiens granulin (GRN), mRNA.	117					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTTGTCCACAGGTAACAACTC	0.592000														70			23		0	0	1	0	0
NDUFV2	4729	broad.mit.edu	37	18	9124966	9124966	+	Silent	SNP	A	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:9124966A>T	uc002knu.3	+	5	678	c.564A>T	c.(562-564)atA>atT	p.I188I		NM_021074	NP_066552	P19404	NDUV2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	188					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|electron carrier activity|metal ion binding			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TGGTTCAAATAAATGACAATT	0.323000														18			6		0	0	1	0	0
NLRP1	22861	broad.mit.edu	37	17	5462554	5462554	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:5462554C>T	uc002gci.3	-	3	2017	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	NLRP1_uc002gcg.1_Missense_Mutation_p.E488K|NLRP1_uc002gch.4_Missense_Mutation_p.E488K|NLRP1_uc002gck.3_Missense_Mutation_p.E488K|NLRP1_uc002gcj.3_Missense_Mutation_p.E488K|NLRP1_uc002gcl.3_Missense_Mutation_p.E488K|NLRP1_uc010clh.3_Missense_Mutation_p.E488K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	488	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TAGAAATATTCCTTCCTGCTG	0.502000														46			13		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155451201	155451201	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:155451201C>T	uc003qqb.3	+	5	2117	c.844C>T	c.(844-846)Cca>Tca	p.P282S	TIAM2_uc003qqe.3_Missense_Mutation_p.P282S	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	282					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCCAGCTTCCCACCTGGCGA	0.622000														62			22		0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6520102	6520102	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:6520102C>T	uc001mdw.4	+	2	1221	c.657C>T	c.(655-657)ccC>ccT	p.P219P	DNHD1_uc001mdp.3_Silent_p.P219P	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	219					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GTCTCCTTCCCTTGGCACTGG	0.557000														49			18		0	0	1	0	0
FAM55C	91775	broad.mit.edu	37	3	101540294	101540295	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:101540294_101540295CC>AT	uc003dvn.3	+	7	1813_1814	c.1176_1177CC>AT	c.(1174-1179)ttcctt>ttATtt	p.392_393FL>LF	FAM55C_uc010hpn.3_Missense_Mutation_p.392_393FL>LF	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	392						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						TGGGTCCCTTCCTTGCAGTGGA	0.450000														25			20		0	0	1	0	0
PLEKHA7	144100	broad.mit.edu	37	11	16838769	16838769	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:16838769C>T	uc010rcu.1	-	10	1459	c.1444G>A	c.(1444-1446)Ggg>Agg	p.G482R	PLEKHA7_uc001mmo.3_Missense_Mutation_p.G482R|PLEKHA7_uc010rcv.2_Missense_Mutation_p.G56R|PLEKHA7_uc001mmn.3_Missense_Mutation_p.G190R	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	482					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.S481S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GAGGAGCCCCCCGAGGGGTGT	0.622000														91			39		0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50471886	50471886	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:50471886C>T	uc001rvv.3	+	4	1042	c.813C>T	c.(811-813)acC>acT	p.T271T	ASIC1_uc001rvw.3_Silent_p.T271T|ASIC1_uc009zln.3_Silent_p.T62T|ASIC1_uc009zlo.3_Silent_p.T271T|ASIC1_uc021qxr.1_Silent_p.T305T	NM_020039	NP_064423	P78348	ACCN2_HUMAN	Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA.	271					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GCTTCCAGACCTTTGTGGCCT	0.592000														157			43		0	0	1	0	0
ARHGEF9	23229	broad.mit.edu	37	X	62885799	62885799	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:62885799G>A	uc004dvl.2	-	6	1862	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	ARHGEF9_uc011mos.1_Silent_p.F320F|ARHGEF9_uc004dvk.1_Intron|ARHGEF9_uc004dvm.1_Silent_p.F320F|ARHGEF9_uc004dvj.2_Silent_p.F239F|ARHGEF9_uc011mot.2_Silent_p.F288F|ARHGEF9_uc004dvn.3_Silent_p.F348F	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	341	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GGTCAAACAGGAAGAAGACCC	0.587000														12			9		0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1649497	1649497	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:1649497C>T	uc003wpl.3	+	11	2950	c.2853C>T	c.(2851-2853)tcC>tcT	p.S951S	DLGAP2_uc003wpm.3_Silent_p.S937S	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	1030					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GAGCGGCGTCCTTCCGGCAGA	0.667000														19			7		0	0	1	0	0
C11orf2	738	broad.mit.edu	37	11	64876824	64876824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:64876824C>T	uc001ocr.1	+	5	1556	c.1516C>T	c.(1516-1518)Cag>Tag	p.Q506*	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Nonsense_Mutation_p.Q382*	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	506					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						CCAGACGGCTCAGAGCTTCTG	0.642000														50			30		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49425896	49425896	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:49425896G>C	uc001rta.4	-	38	12592	c.12592C>G	c.(12592-12594)Cga>Gga	p.R4198G		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	4198	Gln-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AGCTGTGCTCGAAGCTGACCC	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				39			29		0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34085873	34085873	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:34085873C>T	uc021wco.1	+	25	4279	c.3632C>T	c.(3631-3633)cCt>cTt	p.P1211L	CEP250_uc010zve.2_Missense_Mutation_p.P579L	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1211	Gln/Glu-rich.				G2/M transition of mitotic cell cycle|centriole-centriole cohesion|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GACTCTGCTCCTTCCGTCTGG	0.647000														13			16		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21151601	21151601	+	Silent	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:21151601A>G	uc001bec.3	-	27	4448	c.4192T>C	c.(4192-4194)Ttg>Ctg	p.L1398L	EIF4G3_uc010odi.2_Silent_p.L1002L|EIF4G3_uc010odj.2_Silent_p.L1397L|EIF4G3_uc009vpz.3_Silent_p.L1118L|EIF4G3_uc001bef.3_Silent_p.L1434L|EIF4G3_uc001bee.3_Silent_p.L1404L	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	1398					RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACCTGCTCCAAAAGAAAATTA	0.393000														14			2		0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22317153	22317153	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:22317153G>A	uc002zvs.3	-	11	1752	c.1317C>T	c.(1315-1317)ctC>ctT	p.L439L	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Silent_p.L439L|TOP3B_uc010gtl.3_Silent_p.L439L	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	439					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGCAGGTGAAGAGCTCGGGCC	0.572000														51			41		0	0	1	0	0
PKN2	5586	broad.mit.edu	37	1	89250336	89250336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:89250336C>T	uc001dmn.3	+	6	1342	c.1000C>T	c.(1000-1002)Cgt>Tgt	p.R334C	PKN2_uc010osp.2_Missense_Mutation_p.R334C|PKN2_uc010osq.2_Missense_Mutation_p.R177C|PKN2_uc009wcv.3_Missense_Mutation_p.R334C|PKN2_uc010osr.2_5'UTR	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	334	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTGGAAGTTCGTCTTATGGG	0.398000														18			7		0	0	1	0	0
ODZ1	10178	broad.mit.edu	37	X	123514403	123514403	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:123514403C>T	uc010nqy.3	-	31	8246	c.8182G>A	c.(8182-8184)Gaa>Aaa	p.E2728K	ODZ1_uc011muj.2_Missense_Mutation_p.E2727K|ODZ1_uc004euj.3_Missense_Mutation_p.E2721K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2721					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTGCCTATTTCGCTCTGTCTC	0.373000														17			17		0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511136	61511136	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:61511136G>A	uc001nsa.3	+	19	2420	c.2304G>A	c.(2302-2304)gcG>gcA	p.A768A		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	768					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCTGGCGGCGGAGCTGCAGG	0.716000														67			82		0	0	1	0	0
APC	324	broad.mit.edu	37	5	112177991	112177991	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:112177991C>T	uc003kpz.4	+	16	6893	c.6700C>T	c.(6700-6702)Cca>Tca	p.P2234S	APC_uc011cvt.2_Missense_Mutation_p.P2216S|APC_uc003kpy.4_Missense_Mutation_p.P2234S|APC_uc010jbz.3_Missense_Mutation_p.P1951S|APC_uc010jca.3_Missense_Mutation_p.P1534S	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	2234	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATTCATATTCCAGGAGTTCG	0.443000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				26			34		0	0	1	0	0
SZT2	23334	broad.mit.edu	37	1	43855557	43855557	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:43855557C>T	uc001cjk.2	+	1	1	c.-2609_splice	c.e1-1		MED8_uc001cje.1_5'Flank|MED8_uc001cjg.4_5'Flank|MED8_uc001cjf.4_5'Flank|SZT2_uc001cjh.3_Splice_Site|SZT2_uc001cji.1_Splice_Site|SZT2_uc009vws.1_Splice_Site	NM_015284	NP_056099	Q5T011	SZT2_HUMAN	Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA.							peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTTCCGGTTCCTGCTGGGTG	0.627000														23			5		0	0	1	0	0
DENND5A	23258	broad.mit.edu	37	11	9167357	9167357	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:9167357G>A	uc001mhl.3	-	16	3120	c.2863C>T	c.(2863-2865)Ccg>Tcg	p.P955S	DENND5A_uc001mhk.3_Missense_Mutation_p.P298S|DENND5A_uc010rbw.2_Missense_Mutation_p.P955S|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	955	PLAT.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ATGTGGTACGGGATCACTGTT	0.493000														141			41		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7551065	7551065	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:7551065C>T	uc010sge.2	-	6	1580	c.1554G>A	c.(1552-1554)agG>agA	p.R518R	CD163L1_uc001qsy.3_Silent_p.R508R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	508	SRCR 5.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CAGCTGCATTCCTTGTGCTCC	0.468000														86			19		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616651	77616651	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:77616651G>A	uc003yau.2	+	1	715	c.328G>A	c.(328-330)Gat>Aat	p.D110N	ZFHX4_uc003yat.1_Missense_Mutation_p.D110N|ZFHX4_uc003yaw.1_Missense_Mutation_p.D110N	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	110						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGTCCTGAAGGATGACAACGA	0.478000										HNSCC(33;0.089)				75			63		0	0	1	0	0
CACNA1F	778	broad.mit.edu	37	X	49063547	49063547	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:49063547G>A	uc004dnb.3	-	43	5245	c.5183C>T	c.(5182-5184)aCc>aTc	p.T1728I	CACNA1F_uc010nip.3_Missense_Mutation_p.T1717I	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1728					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTCTGGGATGGTGAAAATGAG	0.547000														2			4		0	0	1	0	0
HYAL2	8692	broad.mit.edu	37	3	50357173	50357173	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:50357173G>A	uc003czx.3	-	0	3041	c.748C>T	c.(748-750)Ccg>Tcg	p.P250S	HYAL2_uc003czw.3_Missense_Mutation_p.P250S|HYAL2_uc003czv.3_Missense_Mutation_p.P250S|HYAL2_uc010hlj.2_Missense_Mutation_p.P250S	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	Homo sapiens hyaluronoglucosaminidase 2 (HYAL2), transcript variant 2, mRNA.	250						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TAGACAGACGGGAAGAGGGCC	0.627000														25			23		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52200469	52200469	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:52200469G>A	uc001ryw.3	+	26	5377	c.5199G>A	c.(5197-5199)aaG>aaA	p.K1733K	SCN8A_uc010snl.2_Silent_p.K1692K	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1733					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GTGGCTTTAAGGGAGATTGTG	0.507000														51			6		0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12666750	12666750	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:12666750C>T	uc002gno.2	+	13	3049	c.2750C>T	c.(2749-2751)tCa>tTa	p.S917L	MYOCD_uc002gnn.2_Missense_Mutation_p.S869L|MYOCD_uc002gnq.2_Missense_Mutation_p.S593L	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	869					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACACAGTTTTCACCCTCTTCT	0.522000														35			15		0	0	1	0	0
LTBP2	4053	broad.mit.edu	37	14	75016650	75016650	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:75016650C>T	uc001xqa.3	-	7	2092	c.1705G>A	c.(1705-1707)Gag>Aag	p.E569K		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	569	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTAGTCAGCTCCAGCAGAGGG	0.632000														59			21		0	0	1	0	0
CYP26A1	1592	broad.mit.edu	37	10	94835604	94835604	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:94835604G>A	uc001kil.2	+	4	931	c.886G>A	c.(886-888)Gaa>Aaa	p.E296K	CYP26A1_uc001kik.1_Missense_Mutation_p.E227K	NM_000783	NP_000774	O43174	CP26A_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily A, polypeptide 1 (CYP26A1), transcript variant 1, mRNA.	296					negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Colorectal(252;0.122)				ATCTTCAACCGAACTCCTCTT	0.493000														14			21		0	0	1	0	0
GPR156	165829	broad.mit.edu	37	3	119886926	119886926	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:119886926G>A	uc011bjf.2	-	8	1778	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	GPR156_uc011bjg.2_Silent_p.S462S	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	466						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCTTCCCTGGGGAGAAGCTGG	0.537000														39			29		0	0	1	0	0
AQP7	364	broad.mit.edu	37	9	33385282	33385282	+	Silent	SNP	C	T	T	rs116974820	by1000genomes	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:33385282C>T	uc003zst.3	-	7	922	c.750G>A	c.(748-750)ggG>ggA	p.G250G	AQP7_uc003zsu.1_Intron	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	250					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		ACCAGTTCTCCCCATTGCTGC	0.612000														60			31		0	0	1	0	0
IL36B	27177	broad.mit.edu	37	2	113780333	113780333	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:113780333G>A	uc002tiq.1	-	5	517	c.413C>T	c.(412-414)tCc>tTc	p.S138F		NM_014438	NP_055253	Q9NZH7	IL36B_HUMAN	Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA.	138					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						ATGTTGAAAGGAACTCTTCCA	0.433000														23			8		0	0	1	0	0
TMC3	342125	broad.mit.edu	37	15	81633859	81633859	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:81633859C>T	uc021ssk.1	-	16	1716	c.1716_splice	c.e16-1	p.W572_splice	TMC3_uc021ssj.1_Splice_Site_p.W572_splice|TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.3_Splice_Site_p.W572_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	572						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						AGGCCCCCATCCTGGAACCAT	0.532000														12			3		0	0	1	0	0
FOSL2	2355	broad.mit.edu	37	2	28635284	28635285	+	Missense_Mutation	DNP	CC	TT	TT	rs138992086		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:28635284_28635285CC>TT	uc002rma.3	+	3	1759_1760	c.950_951CC>TT	c.(949-951)tcc>tTT	p.S317F	FOSL2_uc021vfg.1_Missense_Mutation_p.S309F|FOSL2_uc010ymi.2_Missense_Mutation_p.S278F	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	317					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					TCATCAGACTCCTTGAACTCCC	0.624000														42			6		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47832359	47832359	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:47832359C>T	uc003tny.2	-	55	8426	c.8392G>A	c.(8392-8394)Gaa>Aaa	p.E2798K	C7orf69_uc003tnz.4_5'Flank|C7orf69_uc003toa.1_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2798					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATCAGAAGTTCGTCTAACAGA	0.403000														64			9		0	0	1	0	0
GORASP2	26003	broad.mit.edu	37	2	171822314	171822314	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:171822314C>T	uc002ugk.3	+	9	1848	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S	GORASP2_uc002ugj.3_Missense_Mutation_p.P277S|GORASP2_uc010zdl.2_Missense_Mutation_p.P357S|GORASP2_uc010zdm.2_Missense_Mutation_p.P301S|GORASP2_uc002ugl.3_Missense_Mutation_p.P277S|GORASP2_uc002ugm.3_Missense_Mutation_p.P127S	NM_015530	NP_056345	Q9H8Y8	GORS2_HUMAN	Homo sapiens golgi reassembly stacking protein 2, 55kDa (GORASP2), transcript variant 1, mRNA.	345	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GCCACCTCTTCCTTCCATGCC	0.512000														48			20		0	0	1	0	0
ATP6V1H	51606	broad.mit.edu	37	8	54723722	54723722	+	Splice_Site	SNP	A	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:54723722A>T	uc003xrl.3	-	7	731	c.579_splice	c.e7+1	p.D193_splice	ATP6V1H_uc003xrk.3_Splice_Site_p.D153_splice|ATP6V1H_uc003xrm.3_Splice_Site_p.D193_splice|ATP6V1H_uc003xrn.3_Intron|ATP6V1H_uc011ldv.2_Splice_Site_p.D113_splice|ATP6V1H_uc010lyd.3_Splice_Site_p.D129_splice	NM_213620	NP_998785	Q9UI12	VATH_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H (ATP6V1H), transcript variant 3, mRNA.	193					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			GAATATACTTACATCACTTGA	0.318000														40			10		0	0	1	0	0
OR4K14	122740	broad.mit.edu	37	14	20483167	20483167	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:20483167G>A	uc010tky.2	-	0	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 14 (OR4K14), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TCCCCAGCAGGAAGTACATAG	0.468000														23			9		0	0	1	0	0
TRIM49	57093	broad.mit.edu	37	11	89531747	89531747	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:89531747C>T	uc001pdb.3	-	7	1239	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	304	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CTCAAAATTTCATACAGAAAG	0.348000														23			7		0	0	1	0	0
ZNF485	220992	broad.mit.edu	37	10	44112358	44112358	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:44112358G>A	uc010qfc.2	+	4	1061	c.867G>A	c.(865-867)caG>caA	p.Q289Q	ZNF485_uc010qfd.2_Silent_p.Q198Q	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN	Homo sapiens zinc finger protein 485 (ZNF485), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						TGGAACATCAGAAAATCCATA	0.398000														45			4		0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827120	143827120	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:143827120G>A	uc011kua.2	+	0	915	c.915G>A	c.(913-915)agG>agA	p.R305R		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GGGCACTGAGGAAGGAGAGGC	0.483000														129			61		0	0	1	0	0
LCE3B	353143	broad.mit.edu	37	1	152586426	152586426	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152586426C>T	uc010pds.2	+	0	140	c.140C>T	c.(139-141)cCc>cTc	p.P47L		NM_178433	NP_848520	Q5TA77	LCE3B_HUMAN	Homo sapiens late cornified envelope 3B (LCE3B), mRNA.	47	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		TGTGGTGGCCCCAGCTCTGAG	0.662000														28			36		0	0	1	0	0
ACTL8	81569	broad.mit.edu	37	1	18152345	18152345	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:18152345C>T	uc001bat.3	+	2	648	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	144						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCTCCTGACCGGAGTGGTGG	0.637000											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		35			13		0	0	1	0	0
PHC3	80012	broad.mit.edu	37	3	169867026	169867026	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:169867026G>A	uc003fgl.2	-	4	455	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	PHC3_uc010hws.1_Missense_Mutation_p.L129F|PHC3_uc011bpq.1_Intron|PHC3_uc011bpr.1_Intron|PHC3_uc003fgm.2_Missense_Mutation_p.L141F|PHC3_uc003fgo.1_Missense_Mutation_p.L125F	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	129	Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAGTGGAGAGGTTGATCTAA	0.443000														15			5		0	0	1	0	0
CFHR2	3080	broad.mit.edu	37	1	196918654	196918654	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:196918654C>T	uc001gtq.1	+	1	205	c.128C>T	c.(127-129)tCc>tTc	p.S43F	CFHR2_uc001gtr.1_Intron	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	43	Sushi 1.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AAGCCATTTTCCCAAGTTCCT	0.348000														17			4		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24729862	24729862	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:24729862G>T	uc001wod.3	-	3	675	c.551C>A	c.(550-552)cCa>cAa	p.P184Q	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	184					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGCCCACTGGGATGATCAC	0.607000														96			20		2.39187e-15	2.41273e-15	1	1	0
NFIA	4774	broad.mit.edu	37	1	61848985	61848985	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:61848985C>T	uc010oos.2	+	7	1240	c.1158C>T	c.(1156-1158)tcC>tcT	p.S386S	NFIA_uc001czy.3_Silent_p.S333S|NFIA_uc001czw.3_Silent_p.S341S|NFIA_uc001czv.3_Silent_p.S341S	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	341					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.H385P(1)	NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						AGACCTCCTCCCTGGGAACGG	0.542000														139			35		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968867	5968867	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5968867C>T	uc010qzt.2	+	0	291	c.291C>T	c.(289-291)agC>agT	p.S97S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCCATCAGCTTCCCTGCCT	0.522000														112			39		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193028470	193028470	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:193028470G>A	uc011bsq.2	-	20	2482	c.2482C>T	c.(2482-2484)Cct>Tct	p.P828S		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	828					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTCTGCCCAGGAGACATTCTT	0.343000														43			21		0	0	1	0	0
CETP	1071	broad.mit.edu	37	16	57007293	57007293	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:57007293C>T	uc002eki.2	+	8	858	c.801C>T	c.(799-801)ttC>ttT	p.F267F	CETP_uc002ekj.2_Intron	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	267					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TCCCCACCTTCTCGCCCACAC	0.602000														47			41		0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182399090	182399090	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:182399090T>C	uc002unu.3	+	25	3639	c.2876T>C	c.(2875-2877)gTt>gCt	p.V959A	ITGA4_uc002unv.3_Missense_Mutation_p.V204A	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	959					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GATGAGAATGTTGCGCATGTA	0.363000														14			5		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49178334	49178334	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:49178334C>T	uc001ngy.3	-	14	1819	c.1558G>A	c.(1558-1560)Gat>Aat	p.D520N	FOLH1_uc001ngx.3_5'Flank|FOLH1_uc009yly.3_Missense_Mutation_p.D505N|FOLH1_uc009ylz.3_Missense_Mutation_p.D505N|FOLH1_uc001ngz.3_Missense_Mutation_p.D520N|FOLH1_uc009yma.3_Missense_Mutation_p.D212N	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	520	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ACCTCAAAATCATTTCCAGAT	0.318000														61			18		0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70974845	70974845	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:70974845G>A	uc001swb.4	-	7	1925	c.1895C>T	c.(1894-1896)tCc>tTc	p.S632F	PTPRB_uc010sto.2_Missense_Mutation_p.S632F|PTPRB_uc010stp.2_Missense_Mutation_p.S542F|PTPRB_uc001swc.4_Missense_Mutation_p.S850F|PTPRB_uc001swa.4_Missense_Mutation_p.S850F|PTPRB_uc001swd.4_Missense_Mutation_p.S849F|PTPRB_uc009zrr.2_Missense_Mutation_p.S729F	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	632	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CACTTGTCGGGAAGAGATCCC	0.473000														51			10		0	0	1	0	0
CFHR1	3078	broad.mit.edu	37	1	196762596	196762596	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:196762596C>T	uc001gtl.3	+	5	1033	c.946C>T	c.(946-948)Caa>Taa	p.Q316*	CFH_uc021pgt.1_Intron|CFHR1_uc010poy.2_Nonsense_Mutation_p.Q255*|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	314	Sushi 5.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TCTATCATTTCAAGCAGTGTG	0.373000														35			15		0	0	1	0	0
RNASEH1	246243	broad.mit.edu	37	2	3597966	3597966	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:3597966G>A	uc002qxt.3	-	3	596	c.506C>T	c.(505-507)cCt>cTt	p.P169L	RNASEH1_uc002qxs.3_Missense_Mutation_p.P52L	NM_002936	NP_002927	O60930	RNH1_HUMAN	Homo sapiens ribonuclease H1 (RNASEH1), mRNA.	169	RNase H.				RNA catabolic process	cytoplasm	RNA binding|magnesium ion binding|ribonuclease H activity			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		AACTTACAAAGGATGGCCTGG	0.493000														114			31		0	0	1	0	0
ELF1	1997	broad.mit.edu	37	13	41533055	41533055	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:41533055G>C	uc001uxs.3	-	2	543	c.170C>G	c.(169-171)cCc>cGc	p.P57R	ELF1_uc010tfc.2_Missense_Mutation_p.P57R|ELF1_uc010acd.3_5'UTR	NM_172373	NP_758961	P32519	ELF1_HUMAN	Homo sapiens E74-like factor 1 (ets domain transcription factor) (ELF1), transcript variant 1, mRNA.	57					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CATGTCATTGGGCTCTTCCAC	0.453000														59			23		0	0	1	0	0
CHRDL2	25884	broad.mit.edu	37	11	74415649	74415649	+	Silent	SNP	C	T	T	rs146704420		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:74415649C>T	uc001ovh.3	-	6	886	c.633G>A	c.(631-633)ccG>ccA	p.P211P	CHRDL2_uc001ovg.3_Silent_p.P95P|CHRDL2_uc001ovi.3_Silent_p.P211P|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Silent_p.P211P	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	211					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CTGGGGTGCCCGGGCCTCTCT	0.592000														30			18		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172001622	172001622	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:172001622C>T	uc001gie.3	+	4	846	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	DNM3_uc001gid.4_Silent_p.L224L|DNM3_uc009wwb.2_Silent_p.L224L|DNM3_uc001gif.3_Silent_p.L224L	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	224					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGAGAACAAACTGTTGCCTCT	0.373000														40			10		0	0	1	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102822	92102822	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:92102822C>T	uc001xzs.1	-	16	1829	c.1689G>A	c.(1687-1689)acG>acA	p.T563T	CATSPERB_uc010aub.1_Silent_p.T85T	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	563					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TGCTGTAGATCGTTTCCTGGG	0.413000														78			20		0	0	1	0	0
COX10	1352	broad.mit.edu	37	17	13980184	13980184	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:13980184C>T	uc002gof.4	+	2	514	c.310C>T	c.(310-312)Ccg>Tcg	p.P104S	COX10_uc010vvs.2_Intron|COX10_uc010vvt.2_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	104					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ACCTCTCTCACCGCCCAGCCT	0.428000														33			6		0	0	1	0	0
CDHR3	222256	broad.mit.edu	37	7	105644979	105644979	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:105644979C>T	uc003vdl.4	+	7	1006	c.898C>T	c.(898-900)Cga>Tga	p.R300*	CDHR3_uc003vdk.3_5'UTR|CDHR3_uc011kls.1_Non-coding_Transcript|CDHR3_uc003vdm.4_Nonsense_Mutation_p.R287*|CDHR3_uc011klt.2_Nonsense_Mutation_p.R212*|CDHR3_uc003vdn.3_Nonsense_Mutation_p.R17*	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	300	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						AAGGATAGACCGAGATGCAGG	0.448000														10			14		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073345	40073346	+	Splice_Site	DNP	GG	AA	AA			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:40073345_40073346GG>AA	uc003ayc.3	+	30	4855	c.4855_splice	c.e30-1	p.V1619_splice	CACNA1I_uc003ayd.3_Splice_Site_p.V1584_splice|CACNA1I_uc003aye.3_Splice_Site_p.V1534_splice|CACNA1I_uc003ayf.3_Splice_Site_p.V1499_splice	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1619					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TCCTCCCGCAGGTGGGCAACCT	0.673000														7			6		0	0	1	0	0
ALG3	10195	broad.mit.edu	37	3	183960642	183960642	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:183960642G>A	uc003fne.2	-	7	1144	c.1113C>T	c.(1111-1113)ctC>ctT	p.L371L	ALG3_uc011brc.1_Silent_p.L336L|ALG3_uc011brd.1_Silent_p.L315L|ALG3_uc011bre.1_Silent_p.L323L	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	371					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGGCCCACAGGAGGTAGGGCA	0.572000														48			27		0	0	1	0	0
HIST1H1B	3009	broad.mit.edu	37	6	27834900	27834901	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:27834900_27834901CC>TT	uc003njx.3	-	0	459_460	c.407_408GG>AA	c.(406-408)ggg>gAA	p.G136E		NM_005322	NP_005313	P16401	H15_HUMAN	Homo sapiens histone cluster 1, H1b (HIST1H1B), mRNA.	136					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A135A(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TAGGCGTGGCCCCCGCGGGCTT	0.604000														156			71		0	0	1	0	0
ALK	238	broad.mit.edu	37	2	29474030	29474030	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:29474030C>T	uc002rmy.3	-	11	3097	c.2145G>A	c.(2143-2145)ggG>ggA	p.G715G		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	715					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGCCCTCGCTCCCCACCTCCA	0.647000			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome					17			5		0	0	1	0	0
MEI1	150365	broad.mit.edu	37	22	42180657	42180657	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:42180657C>T	uc003baz.1	+	25	3240	c.3215C>T	c.(3214-3216)tCc>tTc	p.S1072F	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.S458F|MEI1_uc003bbc.1_Missense_Mutation_p.S440F|MEI1_uc010gym.1_Missense_Mutation_p.S405F|MEI1_uc003bbd.1_Missense_Mutation_p.S315F|MEI1_uc010gyn.1_Intron|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc011apf.1_Missense_Mutation_p.S86F|MEI1_uc010gyo.1_Intron|MEI1_uc003bbg.2_Missense_Mutation_p.S86F	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1072							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAAAGCTTTTCCTCTGCCCTG	0.607000														23			11		0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88768593	88768593	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:88768593C>T	uc001kee.2	+	11	1788	c.584C>T	c.(583-585)tCc>tTc	p.S195F	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	195	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GCACCCATCTCCAGCTCTAAA	0.493000														75			63		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21229306	21229306	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:21229306G>A	uc002red.3	-	25	10562	c.10434C>T	c.(10432-10434)gaC>gaT	p.D3478D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3478	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAAGCTTGTGGTCAACTGCTC	0.413000														45			15		0	0	1	0	0
KCNK3	3777	broad.mit.edu	37	2	26951064	26951064	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:26951064C>T	uc002rhn.2	+	1	976	c.813C>T	c.(811-813)ggC>ggT	p.G271G		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	271					synaptic transmission	integral to plasma membrane		p.A270V(1)		endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAGGCGGGCGGCGGCGGAG	0.726000														14			5		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141571258	141571258	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:141571258T>A	uc002tvj.1	-	31	6299	c.5327A>T	c.(5326-5328)gAa>gTa	p.E1776V		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1776					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTGTTAATTCTTCTTTCAT	0.363000										TSP Lung(27;0.18)				27			10		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80646611	80646611	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:80646611T>A	uc010ysh.2	+	7	1180	c.1175T>A	c.(1174-1176)tTc>tAc	p.F392Y	CTNNA2_uc010yse.2_Missense_Mutation_p.F392Y|CTNNA2_uc010ysf.2_Missense_Mutation_p.F392Y|CTNNA2_uc010ysg.2_Missense_Mutation_p.F392Y|CTNNA2_uc010ysi.2_Missense_Mutation_p.F24Y	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	392					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCTGACTCTTTCCTGGAAACC	0.378000														41			21		0	0	1	0	0
SLC22A15	55356	broad.mit.edu	37	1	116607112	116607112	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:116607112C>T	uc001egb.4	+	9	1478	c.1348C>T	c.(1348-1350)Ccc>Tcc	p.P450S		NM_018420	NP_060890	Q8IZD6	S22AF_HUMAN	Homo sapiens solute carrier family 22, member 15 (SLC22A15), mRNA.	450					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GATTATTGCTCCCTTCATCCC	0.403000														12			4		0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238289678	238289678	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:238289678C>T	uc002vwl.2	-	4	2062	c.1777G>A	c.(1777-1779)Gaa>Aaa	p.E593K	COL6A3_uc002vwo.2_Missense_Mutation_p.E387K|COL6A3_uc010znj.1_Missense_Mutation_p.E186K|COL6A3_uc002vwq.3_Missense_Mutation_p.E387K|COL6A3_uc002vwr.3_Missense_Mutation_p.E186K|COL6A3_uc010znk.1_Missense_Mutation_p.E593K	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	593	Nonhelical region.|VWFA 3.				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)		GCGATCTCTTCCAGCTCAGCC	0.572000														33			14		0	0	1	0	0
PCDHB12	56124	broad.mit.edu	37	5	140589572	140589572	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140589572G>A	uc003liz.3	+	0	1282	c.1093G>A	c.(1093-1095)Gtt>Att	p.V365I	PCDHB12_uc011dak.2_Missense_Mutation_p.V28I	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	365	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGACTGTGGTTATGGTTTT	0.448000														23			34		0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24728307	24728307	+	Missense_Mutation	SNP	C	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:24728307C>A	uc001wod.3	-	6	1257	c.1133G>T	c.(1132-1134)tGg>tTg	p.W378L	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_Intron	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	378					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	AGCAAAGACCCAGCACTGGCC	0.627000														30			12		7.93312e-07	7.96756e-07	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96508421	96508421	+	Silent	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:96508421A>G	uc001vmt.3	-	33	4169	c.3999T>C	c.(3997-3999)gaT>gaC	p.D1333D	UGGT2_uc001vms.3_Silent_p.D53D	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1333	Glucosyltransferase.				post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CCTGGTCAGCATCAACAAAAA	0.318000														42			20		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104448931	104448931	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:104448931C>T	uc004bbp.2	-	1	1852	c.1251G>A	c.(1249-1251)atG>atA	p.M417I	GRIN3A_uc004bbq.1_Missense_Mutation_p.M417I	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	417					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CCATGCAGTTCATCGTGCTGG	0.473000														53			45		0	0	1	0	0
AKR1C4	1109	broad.mit.edu	37	10	5258737	5258737	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:5258737C>T	uc001ihw.2	+	7	943	c.910C>T	c.(910-912)Cga>Tga	p.R304*		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	304					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CAGAAATTATCGATATGTTGT	0.343000														4			4		0	0	1	0	0
OR13C3	138803	broad.mit.edu	37	9	107298805	107298805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:107298805G>A	uc004bcb.1	-	0	290	c.290C>T	c.(289-291)tCt>tTt	p.S97F		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						ATCCAGGAAAGAGAGGTTGCC	0.413000														27			34		0	0	1	0	0
PNMT	5409	broad.mit.edu	37	17	37825953	37825953	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:37825953A>G	uc002hsi.1	+	1	496	c.274A>G	c.(274-276)Agc>Ggc	p.S92G		NM_002686	NP_002677	P11086	PNMT_HUMAN	Homo sapiens phenylethanolamine N-methyltransferase (PNMT), mRNA.	92					catecholamine biosynthetic process|hormone biosynthetic process	cytosol	phenylethanolamine N-methyltransferase activity			NS(1)|breast(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CAGTGCCTGCAGCCACTTTGA	0.627000														47			21		0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36039616	36039616	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:36039616C>T	uc003jjz.2	-	4	1170	c.1038G>A	c.(1036-1038)gtG>gtA	p.V346V	UGT3A2_uc011cos.2_Silent_p.V312V|UGT3A2_uc011cot.2_Silent_p.V44V	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	346						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACAATTTTCACATTTGCAG	0.532000														63			17		0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573034	140573034	+	Silent	SNP	C	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140573034C>A	uc003lix.3	+	0	1083	c.909C>A	c.(907-909)ctC>ctA	p.L303L		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	303	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.F302C(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATCTTTCTCAGAGAATTGC	0.373000														33			35		1.36615e-20	1.38612e-20	1	1	0
UGT1A1	54658	broad.mit.edu	37	2	234675725	234675725	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:234675725G>A	uc002vuw.3	+	1	913	c.913G>A	c.(913-915)Gtt>Att	p.V305I	UGT1A1_uc010zmv.1_Missense_Mutation_p.V301I|UGT1A1_uc002vup.3_Missense_Mutation_p.V301I|UGT1A1_uc002vuq.3_Missense_Mutation_p.V301I|UGT1A1_uc002vur.3_Missense_Mutation_p.V301I|UGT1A1_uc010zmw.1_Missense_Mutation_p.V301I|UGT1A1_uc002vus.3_Missense_Mutation_p.V301I|UGT1A1_uc010zmx.1_Missense_Mutation_p.V301I|UGT1A1_uc002vut.3_Missense_Mutation_p.V301I|UGT1A1_uc002vuu.3_Missense_Mutation_p.V36I|UGT1A1_uc010zmy.1_Missense_Mutation_p.V303I|UGT1A1_uc002vuv.4_Missense_Mutation_p.V303I|UGT1A1_uc010zmz.1_Missense_Mutation_p.V305I|UGT1A1_uc010zna.1_Missense_Mutation_p.V305I|UGT1A1_uc002vux.3_Missense_Mutation_p.V305I|UGT1A1_uc010znb.1_Missense_Mutation_p.V305I|UGT1A1_uc002vuy.3_Missense_Mutation_p.V305I|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc010znc.1_Missense_Mutation_p.V304I|UGT1A1_uc002vvb.3_Missense_Mutation_p.V304I	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	304					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGAATTGTGGTTTTCTCTTT	0.363000														43			13		0	0	1	0	0
SPN	6693	broad.mit.edu	37	16	29675161	29675161	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:29675161G>A	uc021tgd.1	+	0	112	c.112G>A	c.(112-114)Gag>Aag	p.E38K	BOLA2_uc010bzb.1_Intron|SPN_uc002dtm.3_Missense_Mutation_p.E38K|SPN_uc002dtn.3_Missense_Mutation_p.E38K	NM_003123	NP_003114	P16150	LEUK_HUMAN	Homo sapiens sialophorin (SPN), transcript variant 2, mRNA.	38					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTCTACTAGCGAGCCCCTGAG	0.572000														80			46		0	0	1	0	0
SPANXN5	494197	broad.mit.edu	37	X	52826385	52826385	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:52826385C>T	uc004drc.1	-	0	4	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K		NM_001009616	NP_001009616	Q5MJ07	SPXN5_HUMAN	Homo sapiens SPANX family, member N5 (SPANXN5), mRNA.	2										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					GTGGGCTTTTCCATGATTCTG	0.478000														35			34		0	0	1	0	0
GLYATL2	219970	broad.mit.edu	37	11	58602238	58602238	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:58602238C>T	uc001nnd.4	-	5	680	c.549G>A	c.(547-549)ggG>ggA	p.G183G	GLYATL2_uc009ymq.3_Silent_p.G183G	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	183						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TCTCATTTTTCCCAAAGGCCC	0.418000														19			11		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170009449	170009449	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:170009449C>T	uc002ues.3	-	66	12534	c.12321G>A	c.(12319-12321)ggG>ggA	p.G4107G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4107					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGAGCCCTCCCCTCGCACAG	0.473000														103			33		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140346522	140346522	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140346522C>T	uc003lii.3	+	0	776	c.171C>T	c.(169-171)ctC>ctT	p.L57L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.L57L	NM_018899	NP_061722	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA.	57	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A56A(2)		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)			CCGGCGCGCTCGTGGGCAACG	0.692000														14			6		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680062	33680062	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:33680062G>A	uc002hjg.4	-	4	2266	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	SLFN11_uc010ctr.3_Silent_p.F673F|SLFN11_uc010ctp.3_Silent_p.F673F|SLFN11_uc010ctq.3_Silent_p.F673F|SLFN11_uc002hjh.4_Silent_p.F673F	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	673						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTCAGTACGGAAATTCTGAG	0.448000														114			31		0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35770968	35770968	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:35770968C>T	uc011axy.2	+	12	1509	c.1297C>T	c.(1297-1299)Ctt>Ttt	p.L433F	ARPP21_uc003cga.3_Missense_Mutation_p.L413F|ARPP21_uc003cgb.3_Missense_Mutation_p.L467F|ARPP21_uc003cgf.3_Missense_Mutation_p.L268F|ARPP21_uc003cgg.3_5'UTR	NM_016300	NP_057384	Q9UBL0	ARP21_HUMAN	Homo sapiens cAMP-regulated phosphoprotein, 21kDa (ARPP21), transcript variant 1, mRNA.	467						cytoplasm	nucleic acid binding	p.P433P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTACATCCTCCTTCCACTTGA	0.542000														38			26		0	0	1	0	0
TRPV6	55503	broad.mit.edu	37	7	142572717	142572717	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:142572717C>T	uc003wbx.2	-	9	1455	c.1226G>A	c.(1225-1227)aGa>aAa	p.R409K	TRPV6_uc003wbw.1_Missense_Mutation_p.R195K|TRPV6_uc010lou.1_Missense_Mutation_p.R280K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	409					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GACCCCCATTCTGAAGATGTC	0.552000														88			45		0	0	1	0	0
SLC6A18	348932	broad.mit.edu	37	5	1240715	1240715	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:1240715C>T	uc003jby.2	+	6	1038	c.915C>T	c.(913-915)atC>atT	p.I305I		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	305					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ACGCGTCCATCGCTGTCTTCT	0.597000														74			9		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140744722	140744722	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140744722G>A	uc003lju.2	+	0	825	c.825G>A	c.(823-825)ggG>ggA	p.G275G	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_uc011das.2_Silent_p.G275G	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	275	Cadherin 3.		G -> S (in dbSNP:rs2233603).		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)			GAATAAACGGGAAATTGACCT	0.478000														27			29		0	0	1	0	0
FAAH2	158584	broad.mit.edu	37	X	57407403	57407403	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:57407403G>A	uc004dvc.3	+	6	1086	c.937G>A	c.(937-939)Gat>Aat	p.D313N		NM_174912	NP_777572	Q6GMR7	FAAH2_HUMAN	Homo sapiens fatty acid amide hydrolase 2 (FAAH2), mRNA.	313						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GATGGAACATGATGGAGGCTC	0.279000										HNSCC(52;0.14)				16			14		0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32729552	32729552	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:32729552C>T	uc003obz.2	-	1	332	c.249G>A	c.(247-249)cgG>cgA	p.R83R	HLA-DQB2_uc003oby.4_Silent_p.R83R	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	83					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTCGATGCTCCGCCCCAGCT	0.627000														16			7		0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31322974	31322974	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:31322974C>T	uc010dmg.1	+	11	3217	c.3162C>T	c.(3160-3162)ctC>ctT	p.L1054L	ASXL3_uc002kxq.2_Silent_p.L761L	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1054	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCAGGACCCTCGCAGATATCA	0.592000														11			7		0	0	1	0	0
LEPREL1	55214	broad.mit.edu	37	3	189688638	189688638	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:189688638G>A	uc011bsk.2	-	12	2248	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	LEPREL1_uc003fsg.3_Silent_p.F439F	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	620	Fe2OG dioxygenase.				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	Golgi apparatus|basement membrane|endoplasmic reticulum	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTGTGAATATGAATTCTCCTC	0.313000														15			8		0	0	1	0	0
GAMT	2593	broad.mit.edu	37	19	1399562	1399562	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:1399562C>T	uc002lsj.3	-	2	429	c.352G>A	c.(352-354)Gag>Aag	p.E118K	GAMT_uc002lsk.3_Missense_Mutation_p.E118K	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	118	S-adenosyl-L-methionine binding.				creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)	GCCACATCCTCCCACAGGCCT	0.602000														16			4		0	0	1	0	0
TFG	10342	broad.mit.edu	37	3	100447693	100447693	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:100447693C>T	uc003duf.3	+	3	591	c.406C>T	c.(406-408)Cct>Tct	p.P136S	TFG_uc003due.3_Missense_Mutation_p.P136S|TFG_uc003dug.3_Missense_Mutation_p.P136S|TFG_uc003dui.3_Missense_Mutation_p.P136S	NM_001007565	NP_006061	Q92734	TFG_HUMAN	Homo sapiens TRK-fused gene (TFG), transcript variant 2, mRNA.	136					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCAATATTCCTGAAAATGG	0.378000			T	"""NTRK1, ALK"""	"""papillary thyroid, ALCL, NSCLC"""									46			42		0	0	1	0	0
RALGPS2	55103	broad.mit.edu	37	1	178863065	178863065	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:178863065C>T	uc001glz.3	+	15	1675	c.1337C>T	c.(1336-1338)tCa>tTa	p.S446L	RALGPS2_uc010pnb.2_Missense_Mutation_p.S420L	NM_152663	NP_689876	Q86X27	RGPS2_HUMAN	Homo sapiens Ral GEF with PH domain and SH3 binding motif 2 (RALGPS2), mRNA.	446					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCTGCAGAATCAGAAGATTTG	0.313000														13			5		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55216206	55216206	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:55216206C>T	uc003pcm.1	+	4	612	c.526C>T	c.(526-528)Caa>Taa	p.Q176*		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	176						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCTTCTATCAAAATATACC	0.433000														153			31		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70405865	70405865	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:70405865C>T	uc001jok.4	+	3	3884	c.3379C>T	c.(3379-3381)Cca>Tca	p.P1127S		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1127					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ACAACAGAAACCACCTTCAAG	0.388000														11			5		0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806704	97806704	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:97806704A>T	uc011bgs.2	+	0	688	c.688A>T	c.(688-690)Aaa>Taa	p.K230*		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TATTCTGAAAAAAAAGTCTGA	0.383000														19			6		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42853913	42853913	+	Missense_Mutation	SNP	C	T	T	rs150287042	by1000genomes	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:42853913C>T	uc010skv.2	-	7	2481	c.2194G>A	c.(2194-2196)Gga>Aga	p.G732R	PRICKLE1_uc001rnl.3_Missense_Mutation_p.G732R|PRICKLE1_uc010skw.2_Missense_Mutation_p.G732R|PRICKLE1_uc001rnm.3_Missense_Mutation_p.G732R|PRICKLE1_uc001rnk.1_5'Flank	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	732					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GCGTACTGTCCGTAGAGATCA	0.498000														73			18		0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698491	103698491	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:103698491C>T	uc001vpy.4	-	5	1636	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K		NM_000452	NP_000443	Q12908	NTCP2_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 2 (SLC10A2), mRNA.	347					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GTCTACTTTTCGTCAGGTTGA	0.373000														46			12		0	0	1	0	0
VRTN	55237	broad.mit.edu	37	14	74824245	74824245	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:74824245C>T	uc021rwl.1	+	0	759	c.759C>T	c.(757-759)ggC>ggT	p.G253G	VRTN_uc001xpw.4_Silent_p.G253G	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	253					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						GTGCCCCTGGCGTGGCCCCAG	0.652000														63			45		0	0	1	0	0
MUC13	56667	broad.mit.edu	37	3	124639106	124639106	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:124639106C>T	uc003ehq.2	-	4	811	c.772G>A	c.(772-774)Gga>Aga	p.G258R		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	258	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						ACAGTCTGTCCATAAACAGAT	0.333000														17			3		0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21469592	21469592	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:21469592G>A	uc001vyr.3	+	3	976	c.784G>A	c.(784-786)Gag>Aag	p.E262K	SLC39A2_uc001vys.3_Missense_Mutation_p.E163K	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	262						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GGCTGTGTTAGAGGGTGTGGC	0.572000														90			32		0	0	1	0	0
CSTF3	1479	broad.mit.edu	37	11	33108558	33108558	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:33108558G>A	uc001muh.3	-	17	1937	c.1771C>T	c.(1771-1773)Cca>Tca	p.P591S	TCP11L1_uc001muf.1_Intron	NM_001326	NP_001317	Q12996	CSTF3_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa (CSTF3), transcript variant 1, mRNA.	591	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGCTGAAATGGAATCATCTGC	0.428000														113			28		0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233899378	233899379	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:233899378_233899379GG>AA	uc010zmn.2	+	1	754_755	c.754_755GG>AA	c.(754-756)ggg>AAg	p.G252K		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	252							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CACCAATGACGGGCTTGATTTC	0.673000														31			19		0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74957846	74957846	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:74957846G>A	uc002fdh.1	-	8	809	c.707C>T	c.(706-708)cCt>cTt	p.P236L	WDR59_uc002fdi.3_Missense_Mutation_p.P236L|WDR59_uc021tli.1_Missense_Mutation_p.P215L	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	236										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CTTCCAGACAGGCACCTGGCA	0.458000														12			8		0	0	1	0	0
CPAMD8	27151	broad.mit.edu	37	19	17088325	17088325	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:17088325C>T	uc002nfb.3	-	14	1784	c.1752G>A	c.(1750-1752)gaG>gaA	p.E584E		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	537						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACACGTCGACCTCAGCTTCTG	0.592000														22			4		0	0	1	0	0
LOC649330	649330	broad.mit.edu	37	1	12907539	12907540	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:12907539_12907540CC>TT	uc010obf.2	-	1	829_830	c.603_604GG>AA	c.(601-606)ctggaa>ctAAaa	p.E202K	LOC649330_uc009vno.2_Missense_Mutation_p.E202K	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	202							nucleic acid binding|nucleotide binding										TCAATTTTTTCCAGGTTTTCCA	0.426000														63			34		0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152282908	152282908	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:152282908C>T	uc001ezu.1	-	2	4490	c.4454G>A	c.(4453-4455)gGt>gAt	p.G1485D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1485	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGTCCTGACCGTCTTGGGA	0.577000									Ichthyosis					316			108		0	0	1	0	0
AHDC1	27245	broad.mit.edu	37	1	27875805	27875805	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:27875805G>A	uc021ojw.1	-	0	2822	c.2822C>T	c.(2821-2823)gCc>gTc	p.A941V	AHDC1_uc009vsy.3_Missense_Mutation_p.A941V|AHDC1_uc009vsz.1_Missense_Mutation_p.A941V	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	941							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAAGGTCTCGGCTGCCCGGCA	0.672000														77			27		0	0	1	0	0
MASP2	10747	broad.mit.edu	37	1	11086950	11086950	+	Missense_Mutation	SNP	C	T	T	rs141174563	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:11086950C>T	uc001aru.3	-	10	2085	c.2053G>A	c.(2053-2055)Gat>Aat	p.D685N		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	685					complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		AGTTAAAAATCACTAATTATG	0.418000														73			20		0	0	1	0	0
CTBS	1486	broad.mit.edu	37	1	85031635	85031635	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:85031635C>T	uc001dka.2	-	3	651	c.586G>A	c.(586-588)Gga>Aga	p.G196R	CTBS_uc001dkc.3_Missense_Mutation_p.G105R|CTBS_uc001dkb.2_5'UTR	NM_004388	NP_004379	Q01459	DIAC_HUMAN	Homo sapiens chitobiase, di-N-acetyl- (CTBS), mRNA.	196						lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		TCTGCGATTCCAGTATAATTA	0.368000														14			4		0	0	1	0	0
TFEC	22797	broad.mit.edu	37	7	115594693	115594693	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:115594693G>A	uc003vhj.2	-	4	639	c.386C>T	c.(385-387)aCt>aTt	p.T129I	TFEC_uc003vhm.2_Missense_Mutation_p.T62I|TFEC_uc003vhk.2_Missense_Mutation_p.T100I|TFEC_uc003vhl.4_Missense_Mutation_p.T100I|TFEC_uc011kmw.2_Missense_Mutation_p.T219I	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	129						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCTAGTGTCAGTTTCTGATCA	0.313000														13			6		0	0	1	0	0
RCAN3	11123	broad.mit.edu	37	1	24859646	24859646	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:24859646C>T	uc021ojc.1	+	3	615	c.443C>T	c.(442-444)tCc>tTc	p.S148F	RCAN3_uc021ojd.1_Missense_Mutation_p.S23F|RCAN3_uc021oje.1_Missense_Mutation_p.S148F|RCAN3_uc001bjj.3_Missense_Mutation_p.S148F|RCAN3_uc009vre.3_Missense_Mutation_p.S90F|RCAN3_uc021ojf.1_Missense_Mutation_p.S23F|RCAN3_uc021ojg.1_Missense_Mutation_p.S148F|RCAN3_uc009vrg.3_Intron|RCAN3_uc009vrd.3_Missense_Mutation_p.S138F|RCAN3_uc009vrf.3_Intron	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	148					anatomical structure morphogenesis|calcium-mediated signaling		RNA binding|nucleotide binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TTCCTCATCTCCCCTCCAGCC	0.567000														28			11		0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554574	44554574	+	Splice_Site	SNP	T	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:44554574T>C	uc010xdb.2	-	1	1877	c.1641_splice	c.e1+1	p.*547_splice	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTCCTGAGTTTATCGTCGGGA	0.567000														391			25		0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2853208	2853208	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:2853208C>T	uc002lwo.3	+	3	1283	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	ZNF555_uc002lwn.4_Missense_Mutation_p.S381F	NM_152791	NP_690004	Q8NEP9	ZN555_HUMAN	Homo sapiens zinc finger protein 555 (ZNF555), transcript variant 1, mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TATCCCCAGTCCTTTCGAAGA	0.468000														10			6		0	0	1	0	0
DENND1A	57706	broad.mit.edu	37	9	126429330	126429330	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:126429330C>T	uc011lzm.1	-	5	600	c.386G>A	c.(385-387)aGa>aAa	p.R129K	DENND1A_uc004bny.1_5'UTR|DENND1A_uc004bnz.1_Missense_Mutation_p.R161K|DENND1A_uc004boa.1_Missense_Mutation_p.R161K|DENND1A_uc004bob.1_Missense_Mutation_p.R131K|DENND1A_uc004boc.3_Missense_Mutation_p.R129K	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	161	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	p.R161I(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGGAAGTTCTCTGGTATCAGG	0.303000														5			5		0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130411846	130411846	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:130411846C>T	uc004ewe.4	-	12	2602	c.2319G>A	c.(2317-2319)ctG>ctA	p.L773L	IGSF1_uc004ewd.3_Silent_p.L768L|IGSF1_uc022cdv.1_Silent_p.L759L|IGSF1_uc004ewf.2_Silent_p.L748L	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	768					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						TGACAAGCTCCAGCGGCTCAC	0.542000														9			14		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138330037	138330037	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:138330037G>A	uc002tva.1	+	15	3244	c.3244G>A	c.(3244-3246)Gaa>Aaa	p.E1082K	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CAACCAGGATGAAATTCCCCC	0.448000														19			4		0	0	1	0	0
CYP26B1	56603	broad.mit.edu	37	2	72362009	72362009	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:72362009C>T	uc002sih.1	-	3	742	c.742G>A	c.(742-744)Gag>Aag	p.E248K	CYP26B1_uc010yra.1_Missense_Mutation_p.E231K|CYP26B1_uc010yrb.1_Missense_Mutation_p.E173K	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	248					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						ATGGCCTTCTCCAGCCCCTTC	0.612000														45			17		0	0	1	0	0
COL6A1	1291	broad.mit.edu	37	21	47409530	47409530	+	Silent	SNP	C	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:47409530C>G	uc002zhu.1	+	9	969	c.867C>G	c.(865-867)ccC>ccG	p.P289P		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	289	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAAGACCCGGGGACCTCG	0.672000														52			17		0	0	1	0	0
OLR1	4973	broad.mit.edu	37	12	10321708	10321708	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:10321708C>T	uc001qxo.1	-	1	257	c.143G>A	c.(142-144)gGa>gAa	p.G48E	OLR1_uc010sgz.1_5'Flank|OLR1_uc021qvb.1_Missense_Mutation_p.G48E|OLR1_uc010sha.1_Missense_Mutation_p.G48E	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	48					blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CACTACTAATCCCAGGCAAAG	0.453000														29			14		0	0	1	0	0
OR5J2	282775	broad.mit.edu	37	11	55944405	55944405	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:55944405C>T	uc010rjb.2	+	0	312	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATTTGTGTTTCGGAGTGTTCA	0.473000														62			16		0	0	1	0	0
CD300LF	146722	broad.mit.edu	37	17	72700933	72700933	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:72700933G>A	uc002jlg.3	-	1	169	c.66C>T	c.(64-66)atC>atT	p.I22I	RAB37_uc002jlc.2_Intron|RAB37_uc002jld.2_Intron|RAB37_uc010dfu.3_Intron|CD300LF_uc002jlf.3_Silent_p.I25I|CD300LF_uc010dfw.3_Non-coding_Transcript|CD300LF_uc002jlh.3_Silent_p.I22I|CD300LF_uc002jli.3_Silent_p.I25I|CD300LF_uc010wra.2_Silent_p.I22I|CD300LF_uc002jlj.1_Silent_p.I25I	NM_139018	NP_620587	Q8TDQ1	CLM1_HUMAN	Homo sapiens CD300 molecule-like family member f (CD300LF), mRNA.	22	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTGGACCGGTGATTTGAGTGA	0.532000														42			15		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55172175	55172175	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:55172175G>A	uc010ooe.1	+	21	3956	c.3632G>A	c.(3631-3633)cGg>cAg	p.R1211Q	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Missense_Mutation_p.R729Q|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.R412Q	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1211						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAGAACTCACGGGCCTCCCTC	0.557000														62			19		0	0	1	0	0
TTC3	7267	broad.mit.edu	37	21	38467671	38467671	+	Nonsense_Mutation	SNP	A	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:38467671A>T	uc002yvz.3	+	8	814	c.709A>T	c.(709-711)Aaa>Taa	p.K237*	TTC3_uc011aee.1_Intron|TTC3_uc002ywa.3_Nonsense_Mutation_p.K237*|TTC3_uc002ywb.3_Nonsense_Mutation_p.K237*|TTC3_uc010gnf.3_Nonsense_Mutation_p.K2*|TTC3_uc011aed.1_Intron|TTC3_uc010gne.1_Nonsense_Mutation_p.K237*	NM_001001894	NP_003307	P53804	TTC3_HUMAN	Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA.	237					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AATGAAAATGAAAGGAAATGA	0.343000														25			5		0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42890791	42890791	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:42890791C>T	uc021yzp.1	+	1	166	c.85C>T	c.(85-87)Ctg>Ttg	p.L29L	PTCRA_uc011duz.1_Silent_p.L39L|PTCRA_uc010jxx.1_Intron|PTCRA_uc010jxy.3_Intron|PTCRA_uc003osx.3_Silent_p.L29L|PTCRA_uc010jxz.3_Intron	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	29						integral to membrane	receptor activity			large_intestine(2)|lung(4)|ovary(2)	8	Colorectal(47;0.196)		all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			CTTTCCTTCTCTGGCCCCACC	0.587000														52			39		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712461	121712461	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:121712461C>T	uc003ees.3	-	6	1338	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	ILDR1_uc003eeq.3_Missense_Mutation_p.E347K|ILDR1_uc003eer.3_Missense_Mutation_p.E335K|ILDR1_uc010hrg.3_Missense_Mutation_p.E290K	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	379						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCCTGGAGCTCCTGGTGGAAA	0.602000														55			15		0	0	1	0	0
HLCS	3141	broad.mit.edu	37	21	38137356	38137356	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:38137356G>A	uc010gnb.3	-	8	3051	c.1637C>T	c.(1636-1638)tCc>tTc	p.S546F	HLCS_uc021wjb.1_Missense_Mutation_p.S546F|HLCS_uc002yvs.3_Missense_Mutation_p.S546F	NM_001242784	NP_001229713	P50747	BPL1_HUMAN	Homo sapiens holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) (HLCS), transcript variant 3, mRNA.	546					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GACAGCCACGGACATCAGATG	0.532000														44			14		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58609005	58609005	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:58609005G>A	uc002env.3	-	14	2026	c.1733C>T	c.(1732-1734)cCa>cTa	p.P578L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P578L|CNOT1_uc002enx.3_Missense_Mutation_p.P578L|CNOT1_uc002enz.1_Missense_Mutation_p.P7L	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	578					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAAGGCAAATGGAGTACCATT	0.403000														38			39		0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105184767	105184767	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:105184767G>A	uc001kwy.1	+	19	2877	c.2790G>A	c.(2788-2790)gcG>gcA	p.A930A		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	930					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AACACCAGGCGATTGTGCAGC	0.562000														45			11		0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1544462	1544462	+	Silent	SNP	G	T	T	rs146829780		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:1544462G>T	uc002cly.3	+	1	471	c.180G>T	c.(178-180)tcG>tcT	p.S60S	TELO2_uc010uvg.1_Silent_p.S60S	NM_016111	NP_057195	Q9Y4R8	TELO2_HUMAN	Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA.	60						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCCACTTCTCGCCTGTCCTCA	0.642000											OREG0023547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		188			33		3.03874e-20	3.07866e-20	1	1	0
SLC8A3	6547	broad.mit.edu	37	14	70515756	70515756	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:70515756C>T	uc001xly.3	-	6	2889	c.2135G>A	c.(2134-2136)gGg>gAg	p.G712E	SLC8A3_uc001xlv.3_Missense_Mutation_p.G83E|SLC8A3_uc001xlu.3_Missense_Mutation_p.G69E|SLC8A3_uc001xlw.3_Missense_Mutation_p.G709E|SLC8A3_uc001xlx.3_Missense_Mutation_p.G710E|SLC8A3_uc001xlz.3_Missense_Mutation_p.G706E|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Missense_Mutation_p.G69E	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	712					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G712G(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		ATCCTCATCCCCTGCTGAAGG	0.522000														30			17		0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20012252	20012252	+	Missense_Mutation	SNP	C	T	T	rs140738972		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:20012252C>T	uc001umd.3	-	14	1226	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.E228K|TPTE2_uc001ume.3_Missense_Mutation_p.E262K|TPTE2_uc009zzm.3_Missense_Mutation_p.E10K|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.E10K	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	339	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E262K(5)|p.E339K(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAATATTTCGGAGGCAATA	0.368000														44			22		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93965732	93965732	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:93965732G>A	uc003poe.3	-	12	2437	c.2196C>T	c.(2194-2196)gtC>gtT	p.V732V	EPHA7_uc003pof.3_Silent_p.V727V|EPHA7_uc011eac.2_Silent_p.V728V	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	732	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTAACTGAATGACTGTAAATT	0.393000														42			27		0	0	1	0	0
PTPRR	5801	broad.mit.edu	37	12	71139691	71139691	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:71139691G>A	uc001swi.2	-	5	1328	c.914C>T	c.(913-915)cCt>cTt	p.P305L	PTPRR_uc001swh.2_Missense_Mutation_p.P60L|PTPRR_uc009zrs.3_Missense_Mutation_p.P99L|PTPRR_uc010stq.2_Missense_Mutation_p.P193L|PTPRR_uc010str.1_Missense_Mutation_p.P154L	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	305					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCGGCCTTGAGGGTCCACGAC	0.532000														34			8		0	0	1	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302094	128302094	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:128302094G>A	uc003kuy.3	+	1	660	c.264G>A	c.(262-264)agG>agA	p.R88R	SLC27A6_uc003kuz.3_Silent_p.R88R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	88					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	p.R88R(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TAGACAAAAGGAGCAGCAGAG	0.488000														26			30		0	0	1	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741370	81741370	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:81741370G>A	uc001szo.2	-	17	2335	c.2174C>T	c.(2173-2175)cCa>cTa	p.P725L	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.P651L|PPFIA2_uc021rbh.1_Missense_Mutation_p.P626L|PPFIA2_uc021rbi.1_Missense_Mutation_p.P725L|PPFIA2_uc021rbj.1_Missense_Mutation_p.P725L|PPFIA2_uc021rbk.1_Missense_Mutation_p.P707L|PPFIA2_uc021rbl.1_Missense_Mutation_p.P725L|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.P292L|PPFIA2_uc021rbf.1_Intron	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	651										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGTGAGCTTTGGAGTTGAGTG	0.542000														84			20		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58616794	58616794	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:58616794G>A	uc002env.3	-	9	1240	c.947C>T	c.(946-948)cCg>cTg	p.P316L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P316L|CNOT1_uc002enx.3_Missense_Mutation_p.P316L|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	316					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCCACTGCCCGGAGCAGAAAT	0.403000														42			13		0	0	1	0	0
RNPS1	10921	broad.mit.edu	37	16	2305681	2305681	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:2305681G>A	uc002cpt.3	-	6	1269	c.723C>T	c.(721-723)ccC>ccT	p.P241P	RNPS1_uc002cpu.3_Silent_p.P241P|RNPS1_uc002cpw.3_Silent_p.P241P|RNPS1_uc002cpx.3_Silent_p.P218P|RNPS1_uc010uwa.2_Non-coding_Transcript	NM_080594	NP_542161	Q15287	RNPS1_HUMAN	Homo sapiens RNA binding protein S1, serine-rich domain (RNPS1), transcript variant 2, mRNA.	241	Arg/Pro-rich.|Necessary for interaction with PNN and exon-skipping.|Necessary for interaction with TRA2B, nuclear localization and exon-skipping.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|termination of RNA polymerase II transcription	cytosol|nuclear speck	mRNA 3'-UTR binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)|urinary_tract(1)	9						GCCTAGGCCAGGGGGCCAGCA	0.552000														43			10		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70634927	70634927	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:70634927C>T	uc001xly.3	-	1	967	c.213G>A	c.(211-213)ggG>ggA	p.G71G	SLC8A3_uc001xlw.3_Silent_p.G71G|SLC8A3_uc001xlx.3_Silent_p.G71G|SLC8A3_uc001xlz.3_Silent_p.G71G|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	71					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding	p.G71G(3)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CAATCTTGTCCCCAAGGGAAG	0.517000														23			16		0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1243538	1243538	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:1243538C>T	uc002qwq.3	+	10	1007	c.878C>T	c.(877-879)cCt>cTt	p.P293L	SNTG2_uc010ewi.3_Missense_Mutation_p.P166L	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	293					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	PDZ domain binding|actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		TGCTGCTCTCCTTCCGACCAG	0.478000														11			5		0	0	1	0	0
SPDEF	25803	broad.mit.edu	37	6	34511861	34511861	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:34511861G>A	uc003ojq.2	-	1	806	c.372C>T	c.(370-372)tcC>tcT	p.S124S	SPDEF_uc011dsq.2_Silent_p.S124S	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	124					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCACCACCATGGACTGCACCT	0.637000														51			16		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512957	69512957	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:69512957C>T	uc021xow.1	-	5	1616	c.1458G>A	c.(1456-1458)tgG>tgA	p.W486*		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	486					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GGTACTGGATCCAGGTGAGGT	0.488000														79			69		0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52130742	52130742	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:52130742G>A	uc002pxe.3	-	5	1394	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	419					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAGCCGCTCTGGGACCCATAG	0.647000														75			75		0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69369149	69369149	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:69369149C>T	uc002ewy.2	-	2	759	c.688G>A	c.(688-690)Ggc>Agc	p.G230S		NM_032382	NP_115758	Q96MW5	COG8_HUMAN	Homo sapiens component of oligomeric golgi complex 8 (COG8), mRNA.	230					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CGCAGGTAGCCAATGACACGG	0.582000														17			11		0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228973582	228973582	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:228973582C>T	uc002vpq.2	-	2	259	c.212G>A	c.(211-213)gGt>gAt	p.G71D	SPHKAP_uc002vpp.2_Missense_Mutation_p.G71D|SPHKAP_uc010zlx.1_Missense_Mutation_p.G71D	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	71						cytoplasm	protein binding	p.G71C(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCTACAAAACCAATTTGGCA	0.463000														39			12		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436015	179436015	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:179436015C>T	uc021vsy.1	-	274	67365	c.67140G>A	c.(67138-67140)aaG>aaA	p.K22380K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.K16075K|TTN_uc021vta.1_Silent_p.K16008K|TTN_uc021vtb.1_Silent_p.K15883K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	23307							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTCTTTCCTTGCGTTCTA	0.413000														58			20		0	0	1	0	0
LMAN1L	79748	broad.mit.edu	37	15	75108595	75108595	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:75108595G>A	uc002ayt.1	+	1	275	c.273G>A	c.(271-273)tgG>tgA	p.W91*	LMAN1L_uc010bkd.2_Nonsense_Mutation_p.W19*|LMAN1L_uc010ulo.1_Nonsense_Mutation_p.W19*|LMAN1L_uc010bke.1_Nonsense_Mutation_p.W91*	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	91	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTCTGCCTGGGAAGTAGAGG	0.672000														16			14		0	0	1	0	0
ACSM4	341392	broad.mit.edu	37	12	7476100	7476100	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:7476100G>A	uc001qsx.1	+	8	1252	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	418					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CAAAGAAGGGGAAATTGCCCT	0.373000														20			12		0	0	1	0	0
CPA5	93979	broad.mit.edu	37	7	130007358	130007358	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:130007358G>A	uc010lmd.1	+	11	1604	c.984G>A	c.(982-984)atG>atA	p.M328I	CPA5_uc003vps.2_Missense_Mutation_p.M328I|CPA5_uc003vpt.2_Missense_Mutation_p.M328I|CPA5_uc010lme.1_Missense_Mutation_p.M328I|CPA5_uc003vpu.1_Missense_Mutation_p.M328I|AK097910_uc003vpv.1_Non-coding_Transcript	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	328					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					ACTCTCAGATGCTTATGTACC	0.562000														91			23		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687413	18687413	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:18687413G>A	uc003sui.3	+	8	1082	c.1041G>A	c.(1039-1041)tcG>tcA	p.S347S	HDAC9_uc003sue.3_Silent_p.S344S|HDAC9_uc011jyd.2_Silent_p.S344S|HDAC9_uc003suh.3_Silent_p.S344S|HDAC9_uc003suj.3_Silent_p.S303S|HDAC9_uc011jya.2_Silent_p.S342S|HDAC9_uc003sua.1_Silent_p.S322S|HDAC9_uc003sud.2_Silent_p.S344S|HDAC9_uc011jyc.2_Silent_p.S303S|HDAC9_uc011jyb.2_Silent_p.S300S|HDAC9_uc003suf.2_Silent_p.S375S|HDAC9_uc010kud.2_Silent_p.S347S|HDAC9_uc011jye.2_Silent_p.S316S|HDAC9_uc011jyf.2_Silent_p.S267S|HDAC9_uc010kue.1_Silent_p.S87S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	344					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CACAGGCTTCGAATTCACTCA	0.473000														10			9		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817653	7817653	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:7817653G>A	uc001mfp.1	-	0	837	c.837C>T	c.(835-837)ccC>ccT	p.P279P		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGTTCAACATGGGAATCACCA	0.428000														56			13		0	0	1	0	0
WNT9B	7484	broad.mit.edu	37	17	44953982	44953982	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:44953982C>T	uc002ikw.1	+	3	1009	c.972C>T	c.(970-972)agC>agT	p.S324S	WNT9B_uc002ikx.1_Intron	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	324					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent	p.S324N(1)		large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			ACACCCAGAGCCGCCTGGTGG	0.652000														37			5		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203680232	203680232	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:203680232C>T	uc001gzw.3	+	11	2924	c.2027C>T	c.(2026-2028)cCa>cTa	p.P676L	ATP2B4_uc001gzv.3_Missense_Mutation_p.P676L|ATP2B4_uc009xaq.3_Missense_Mutation_p.P676L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	676					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CCTGTGCGCCCAGAGGTGAGA	0.572000														48			14		0	0	1	0	0
FBXO39	162517	broad.mit.edu	37	17	6684108	6684108	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:6684108G>A	uc010vtg.2	+	1	1041	c.921G>A	c.(919-921)ccG>ccA	p.P307P		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	307								p.P307P(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AGGAGATCCCGATCAGGAGCA	0.532000														23			9		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38949949	38949949	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:38949949C>T	uc002oit.3	+	18	2461	c.2331C>T	c.(2329-2331)ttC>ttT	p.F777F	RYR1_uc002oiu.3_Silent_p.F777F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	777	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCTCTTCTTCCCTGTTGTCA	0.612000														15			11		0	0	1	0	0
KIAA1244	57221	broad.mit.edu	37	6	138564110	138564110	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:138564110C>T	uc003qhu.3	+	6	736	c.565C>T	c.(565-567)Cca>Tca	p.P189S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	189					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)		CCCAGATGTCCCACAGGATTT	0.403000														10			4		0	0	1	0	0
LRPPRC	10128	broad.mit.edu	37	2	44187737	44187737	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:44187737G>A	uc002rtr.2	-	12	1583	c.1525C>T	c.(1525-1527)Caa>Taa	p.Q509*	LRPPRC_uc010yob.1_Nonsense_Mutation_p.Q409*	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	509					mRNA transport|mitochondrion transport along microtubule|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	RNA binding|beta-tubulin binding|microtubule binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AATCCAGCTTGAGAAAACATA	0.323000														61			11		0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24762685	24762685	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:24762685C>T	uc001iru.4	+	5	1778	c.1375C>T	c.(1375-1377)Ccg>Tcg	p.P459S	KIAA1217_uc001irs.3_Missense_Mutation_p.P379S|KIAA1217_uc001irt.4_Missense_Mutation_p.P459S|KIAA1217_uc010qcy.2_Missense_Mutation_p.P459S|KIAA1217_uc010qcz.2_Missense_Mutation_p.P459S|KIAA1217_uc001irv.1_Missense_Mutation_p.P309S|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.P177S|KIAA1217_uc001irz.3_Missense_Mutation_p.P177S|KIAA1217_uc001irx.3_Missense_Mutation_p.P177S|KIAA1217_uc001iry.3_Missense_Mutation_p.P177S	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	459					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGGAAATATCCGGATAGCCA	0.502000														66			12		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166990350	166990350	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:166990350C>G	uc001gdy.1	+	10	1141	c.1070C>G	c.(1069-1071)tCt>tGt	p.S357C	MAEL_uc021peh.1_Missense_Mutation_p.S301C|MAEL_uc001gdz.1_Missense_Mutation_p.S326C|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	357					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						TCAGGATTCTCTCATTTCAAC	0.358000														18			7		0	0	1	0	0
L3MBTL4	91133	broad.mit.edu	37	18	5969486	5969486	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:5969486C>T	uc002kmz.4	-	17	1707	c.1547G>A	c.(1546-1548)cGg>cAg	p.R516Q	L3MBTL4_uc002kmy.4_Missense_Mutation_p.R507Q|L3MBTL4_uc010dkt.3_Missense_Mutation_p.R516Q	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	516					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGGAAGGTCCCGAAAAGGGTG	0.607000														58			15		0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8404586	8404586	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:8404586C>T	uc003zkk.3	-	35	4904	c.4161G>A	c.(4159-4161)gcG>gcA	p.A1387A	PTPRD_uc003zkp.3_Silent_p.A981A|PTPRD_uc003zkq.3_Silent_p.A980A|PTPRD_uc003zkr.3_Silent_p.A971A|PTPRD_uc003zks.3_Silent_p.A980A|PTPRD_uc022bdj.1_Silent_p.A977A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1387	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.A1387T(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CGATTACATTCGCGTATCTAT	0.378000										TSP Lung(15;0.13)				14			4		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117665378	117665378	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:117665378G>A	uc001twn.2	-	23	4287	c.3576C>T	c.(3574-3576)ttC>ttT	p.F1192F	NOS1_uc021ren.1_Silent_p.F822F|NOS1_uc021reo.1_Silent_p.F822F|NOS1_uc001twm.2_Silent_p.F1158F	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1158	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGATAGATGGGAACTCCTCCA	0.582000														81			23		0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112022805	112022805	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:112022805G>A	uc004epr.3	-	9	2595	c.2577C>T	c.(2575-2577)agC>agT	p.S859S	AMOT_uc004eps.3_Silent_p.S450S|AMOT_uc011mtc.1_Silent_p.S99S	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	859					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TGCAGTCTCGGCTGCCTGTCT	0.587000														20			25		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670372	158670372	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:158670372G>A	uc001fsu.1	-	0	71	c.71C>T	c.(70-72)tCt>tTt	p.S24F		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					GCAGACAACAGACTTAACCCA	0.443000														34			15		0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962300	235962300	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:235962300G>A	uc002vvp.3	+	5	3125	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q	SH3BP4_uc010fym.3_Missense_Mutation_p.R893Q|SH3BP4_uc002vvq.3_Missense_Mutation_p.R911Q	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	911					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GACAGCTACCGGGATGTCATC	0.547000														82			25		0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105098310	105098310	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:105098310G>A	uc010lji.3	-	15	1939	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	PUS7_uc003vcx.3_Missense_Mutation_p.A638V|PUS7_uc003vcy.3_Missense_Mutation_p.A638V|PUS7_uc003vcz.1_Missense_Mutation_p.A638V	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	638					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.A638D(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCTCGAATGGCCATGGTGGC	0.443000														39			46		0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48545242	48545242	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:48545242G>A	uc004dkm.4	+	6	689	c.632G>A	c.(631-633)cGa>cAa	p.R211Q		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	211					T cell receptor signaling pathway|blood coagulation|defense response|epidermis development|immune response	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACGAGTTCACGATACCGTGGG	0.572000			"""Mis, N, F, S"""			lymphoma								16			19		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915809	48915809	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:48915809C>T	uc002rwu.4	-	10	1197	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	376					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTCATGTTTCCCATGATGGC	0.423000														43			6		0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144808130	144808130	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:144808130G>A	uc003yzk.3	-	4	3570	c.3501C>T	c.(3499-3501)ttC>ttT	p.F1167F		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1167					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCTTGGGCACGAACTTGCCCA	0.647000														41			13		0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127413947	127413947	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:127413947C>T	uc003ejx.3	-	6	802	c.657G>A	c.(655-657)cgG>cgA	p.R219R	MGLL_uc003ejw.3_Silent_p.R229R|MGLL_uc011bko.2_Silent_p.R199R|MGLL_uc003ejv.3_Silent_p.R193R	NM_001003794	NP_001003794	Q99685	MGLL_HUMAN	Homo sapiens monoglyceride lipase (MGLL), transcript variant 2, mRNA.	219					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						CGCGCTCCACCCGTGAGACGG	0.607000														79			16		0	0	1	0	0
NXF5	55998	broad.mit.edu	37	X	101095999	101095999	+	Missense_Mutation	SNP	T	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:101095999T>A	uc011mrk.1	-	7	829	c.469A>T	c.(469-471)Aat>Tat	p.N157Y	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Non-coding_Transcript|NXF5_uc004eil.1_Non-coding_Transcript	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	157					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	RNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TCAGGGAAATTTCTTTCAGTG	0.478000														44			38		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107519	6107519	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:6107519G>A	uc010idb.1	-	2	791	c.305C>T	c.(304-306)aCc>aTc	p.T102I	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.T102I|JAKMIP1_uc003giu.4_Missense_Mutation_p.T102I|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.T102I|JAKMIP1_uc010ide.3_Missense_Mutation_p.T102I	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	102	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATCTTGGCGGTGCGCGCCGC	0.682000														9			18		0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166773864	166773864	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:166773864G>A	uc002udk.3	-	13	1935	c.1802C>T	c.(1801-1803)tCc>tTc	p.S601F		NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	601						cilium axoneme|cytoplasm|cytoskeleton	binding	p.S601S(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TGATTTTGTGGAAGCTCCAAT	0.368000														39			10		0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134406032	134406032	+	Splice_Site	SNP	A	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:134406032A>C	uc004cay.3	-	2	210	c.109_splice	c.e2-1	p.S37_splice	UCK1_uc010mzk.3_Splice_Site_p.S28_splice|UCK1_uc004cba.3_Splice_Site_p.S37_splice|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	37					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CACACGGTCGACTGGAGACAC	0.627000														55			46		0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64112077	64112077	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:64112077G>A	uc001nzy.3	+	13	2113	c.2064G>A	c.(2062-2064)ggG>ggA	p.G688G	CCDC88B_uc009ypo.2_Silent_p.G685G|CCDC88B_uc001nzz.1_Silent_p.G337G	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	688					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCTGGAAGGGACGGTCAGGG	0.642000														16			12		0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157388004	157388004	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:157388004C>T	uc003wno.3	-	16	2543	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	PTPRN2_uc003wnp.3_Missense_Mutation_p.D791N|PTPRN2_uc003wnq.3_Missense_Mutation_p.D779N|PTPRN2_uc003wnr.3_Missense_Mutation_p.D770N|PTPRN2_uc011kwa.2_Missense_Mutation_p.D831N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	808	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GGGTCGTGATCCATCTGCAGA	0.542000														70			37		0	0	1	0	0
PTK7	5754	broad.mit.edu	37	6	43113066	43113066	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:43113066G>A	uc011dve.1	+	15	2602	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K	PTK7_uc003oub.1_Missense_Mutation_p.E846K|PTK7_uc003ouc.1_Missense_Mutation_p.E790K|PTK7_uc003oud.1_Missense_Mutation_p.E806K|PTK7_uc003oue.1_Missense_Mutation_p.E716K|PTK7_uc003ouf.1_Intron|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Missense_Mutation_p.E172K	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	846	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTTCCGGAGGGAGTTGGAGAT	0.607000														78			30		0	0	1	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87407148	87407149	+	Missense_Mutation	DNP	AC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:87407148_87407149AC>TT	uc003ujb.3	+	8	1295_1296	c.884_885AC>TT	c.(883-885)aac>aTT	p.N295I	RUNDC3B_uc011khd.1_Missense_Mutation_p.N278I|RUNDC3B_uc011khe.2_Missense_Mutation_p.N278I|RUNDC3B_uc003ujc.3_Missense_Mutation_p.N278I|RUNDC3B_uc003ujd.3_Missense_Mutation_p.N200I	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	295										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					CTTCGAGAGAACCAACTATCTG	0.347000														12			8		0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47836592	47836592	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:47836592T>G	uc002zji.4	+	29	6867	c.6760T>G	c.(6760-6762)Tgc>Ggc	p.C2254G	PCNT_uc002zjj.3_Missense_Mutation_p.C2136G	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2254					G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTGAGCCTGTGCAGTGCCGA	0.687000														56			20		0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19518734	19518734	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:19518734G>A	uc001bbi.3	-	10	1346	c.1342C>T	c.(1342-1344)Ctt>Ttt	p.L448F		NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	448					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GTACGAGAAAGGATGTCTCTG	0.463000														45			17		0	0	1	0	0
NXF1	10482	broad.mit.edu	37	11	62564692	62564692	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:62564692C>T	uc001nvf.1	-	12	1277	c.1141G>A	c.(1141-1143)Gaa>Aaa	p.E381K	NXF1_uc001nvg.1_3'UTR|NXF1_uc009yog.1_Missense_Mutation_p.E424K	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	381					gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCAAGTTTTCTGTTCCAAAA	0.498000														36			16		0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21212828	21212828	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:21212828G>A	uc001bec.3	-	13	2378	c.2122C>T	c.(2122-2124)Caa>Taa	p.Q708*	EIF4G3_uc010odi.2_Nonsense_Mutation_p.Q312*|EIF4G3_uc010odj.2_Nonsense_Mutation_p.Q707*|EIF4G3_uc009vpz.3_Nonsense_Mutation_p.Q428*|EIF4G3_uc001bef.3_Nonsense_Mutation_p.Q744*|EIF4G3_uc001bee.3_Nonsense_Mutation_p.Q714*	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	708	eIF3/EIF4A-binding (By similarity).				RNA metabolic process|interspecies interaction between organisms|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	RNA cap binding|protein binding|translation initiation factor activity	p.G707G(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCTCTTCTTTGGCCAGGTTGA	0.403000														79			25		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137814374	137814374	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:137814374C>T	uc002tva.1	+	1	431	c.431C>T	c.(430-432)cCt>cTt	p.P144L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.P34L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCTCATTCCTTGTCCCCGG	0.493000														123			25		0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28971154	28971154	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:28971154C>T	uc002kwr.2	+	6	933	c.798C>T	c.(796-798)ttC>ttT	p.F266F	DSG4_uc002kwq.2_Silent_p.F266F	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	266	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACGATAATTTCCCCACCTTAG	0.393000														30			8		0	0	1	0	0
SYNCRIP	10492	broad.mit.edu	37	6	86324800	86324800	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:86324800G>A	uc003pla.2	-	10	2087	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S	SYNCRIP_uc003pku.3_Missense_Mutation_p.P516S|SYNCRIP_uc003pkv.3_Missense_Mutation_p.P516S|SYNCRIP_uc003pkw.3_Missense_Mutation_p.P481S|SYNCRIP_uc003pkx.3_Missense_Mutation_p.P364S|SYNCRIP_uc003pky.3_Missense_Mutation_p.P418S|SYNCRIP_uc003pkz.2_Missense_Mutation_p.P481S	NM_006372	NP_006363	O60506	HNRPQ_HUMAN	Homo sapiens synaptotagmin binding, cytoplasmic RNA interacting protein (SYNCRIP), transcript variant 1, mRNA.	516	8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	CRD-mediated mRNA stability complex|catalytic step 2 spliceosome|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCGCGGGGAGGAGCAGCCCCA	0.572000														117			78		0	0	1	0	0
ZNF569	148266	broad.mit.edu	37	19	37935844	37935844	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:37935844G>A	uc002ogj.3	-	5	984	c.52C>T	c.(52-54)Cct>Tct	p.P18S	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_5'UTR	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCTGGGAAGGGATGGGGCCT	0.418000														22			15		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196891489	196891489	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:196891489G>A	uc002utj.4	-	6	763	c.662C>T	c.(661-663)tCc>tTc	p.S221F		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	221	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.K220I(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTACCTATGGATTTCCTTAC	0.294000														10			3		0	0	1	0	0
IQSEC3	440073	broad.mit.edu	37	12	271212	271212	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:271212C>T	uc001qhw.2	+	7	2564	c.2564C>T	c.(2563-2565)tCc>tTc	p.S855F	IQSEC3_uc001qhu.1_Missense_Mutation_p.S552F	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	855	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GTGGAGAAGTCCATTGTGGGC	0.512000														26			12		0	0	1	0	0
ECI2	10455	broad.mit.edu	37	6	4119470	4119470	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:4119470G>A	uc003mwf.3	-	7	872	c.835C>T	c.(835-837)Ccg>Tcg	p.P279S	C6orf201_uc003mwa.4_Intron|C6orf201_uc003mvz.4_Intron|C6orf201_uc011dhw.1_Intron|C6orf201_uc003mwb.4_Intron|ECI2_uc021yku.1_Missense_Mutation_p.P249S|ECI2_uc003mwc.3_Missense_Mutation_p.P107S|ECI2_uc003mwd.3_Missense_Mutation_p.P249S|ECI2_uc003mwe.3_Missense_Mutation_p.P126S|ECI2_uc010jnr.1_Non-coding_Transcript	NM_206836	NP_996667	O75521	ECI2_HUMAN	Homo sapiens enoyl-CoA delta isomerase 2 (ECI2), transcript variant 2, mRNA.	279	ECH-like.				fatty acid metabolic process	mitochondrion|peroxisomal matrix	dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						CATCCTTCCGGACTTTGGCCT	0.358000														26			22		0	0	1	0	0
SLC22A3	6581	broad.mit.edu	37	6	160828201	160828201	+	Missense_Mutation	SNP	G	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:160828201G>T	uc003qti.3	+	2	689	c.662G>T	c.(661-663)gGg>gTg	p.G221V	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	221						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		TTTGGAAAGGGGACGTGGATG	0.478000														95			11		0.0692343	0.0693342	1	1	0
abParts	0	broad.mit.edu	37	14	107095399	107095399	+	RNA	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:107095399G>A	uc021ser.1	-	113		c.5015C>T								Parts of antibodies, mostly variable regions.																		CCAGTCCTGGGCCCGACTCCT	0.627000														15			24		0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547301	43547301	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:43547301C>T	uc002zag.1	+	17	3863	c.3863C>T	c.(3862-3864)aCc>aTc	p.T1288I	UMODL1_uc002zad.1_Missense_Mutation_p.T1088I|UMODL1_uc002zae.1_Missense_Mutation_p.T1216I|UMODL1_uc002zaf.1_Missense_Mutation_p.T1160I|UMODL1_uc002zal.1_Missense_Mutation_p.T110I|UMODL1_uc010gpa.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1160						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTGGGCAACCCCGTCTAGC	0.572000														43			9		0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85164689	85164689	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:85164689C>T	uc002bkr.3	+	2	1489	c.1263C>T	c.(1261-1263)agC>agT	p.S421S	ZSCAN2_uc010bmz.1_Silent_p.S419S|ZSCAN2_uc010bna.3_Silent_p.S271S|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	421					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACCAGTGCAGCGAGTGTGGGA	0.567000														76			17		0	0	1	0	0
AFF4	27125	broad.mit.edu	37	5	132232208	132232208	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:132232208A>C	uc003kyd.3	-	10	2522	c.2114T>G	c.(2113-2115)cTc>cGc	p.L705R	AFF4_uc011cxk.2_Missense_Mutation_p.L383R|AFF4_uc003kye.1_Missense_Mutation_p.L705R	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	705					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCTCACTGAGGGGTGAAAG	0.448000														35			39		0	0	1	0	0
OR56A3	390083	broad.mit.edu	37	11	5968952	5968952	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5968952C>T	uc010qzt.2	+	0	376	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R126S(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCTATGATCGTTATGTAGC	0.458000														89			31		0	0	1	0	0
KRT80	144501	broad.mit.edu	37	12	52574630	52574630	+	Silent	SNP	G	A	A	rs60385381	by1000genomes	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:52574630G>A	uc001rzw.3	-	1	489	c.438C>T	c.(436-438)ttC>ttT	p.F146F	KRT80_uc001rzy.3_Intron|KRT80_uc001rzx.3_Intron	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	0	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		TATCTGGAGGGAAAGAGGGCC	0.572000														7			6		0	0	1	0	0
CCDC39	339829	broad.mit.edu	37	3	180366006	180366006	+	Silent	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:180366006A>G	uc010hxe.3	-	9	1424	c.1309T>C	c.(1309-1311)Tta>Cta	p.L437L	CCDC39_uc003fkn.3_Non-coding_Transcript	NM_181426	NP_852091	Q9UFE4	CCD39_HUMAN	Homo sapiens coiled-coil domain containing 39 (CCDC39), mRNA.	437					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTTTTGTAACTGATGGTTG	0.338000														20			14		0	0	1	0	0
TOMM70A	9868	broad.mit.edu	37	3	100093866	100093867	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:100093866_100093867CC>TT	uc003dtw.3	-	6	1671_1672	c.1222_1223GG>AA	c.(1222-1224)gga>AAa	p.G408K		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	408					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.R407L(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ACTTACCTGTCCTCGGTGGTGA	0.401000														63			11		0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309857	154309857	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:154309857C>T	uc001fex.3	+	11	970	c.970C>T	c.(970-972)Ctg>Ttg	p.L324L	ATP8B2_uc001few.3_Silent_p.L291L|ATP8B2_uc001fey.1_Silent_p.L310L	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	310					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGGGTGATCCTGGCCATTGG	0.552000														118			25		0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63868001	63868001	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:63868001C>T	uc021oof.1	+	3	549	c.244C>T	c.(244-246)Cta>Tta	p.L82L		NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	82					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCATAGTCTCCTATGTGCATA	0.343000														26			4		0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846163	55846163	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:55846163C>T	uc001sgz.1	+	0	166	c.166C>T	c.(166-168)Cct>Tct	p.P56S		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTTAAAACTCCTATGTACTT	0.378000														68			15		0	0	1	0	0
HIPK1	204851	broad.mit.edu	37	1	114500849	114500849	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:114500849C>T	uc001eem.3	+	7	2078	c.1917C>T	c.(1915-1917)acC>acT	p.T639T	HIPK1_uc001eel.3_Silent_p.T639T|HIPK1_uc001een.3_Silent_p.T639T|HIPK1_uc001eeo.3_Silent_p.T265T|HIPK1_uc001eep.3_Silent_p.T245T	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAACCACCCAGATTTGCA	0.463000														35			8		0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3720321	3720321	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:3720321G>A	uc001lyh.3	-	24	4421	c.4000C>T	c.(4000-4002)Cag>Tag	p.Q1334*	NUP98_uc001lyi.3_Nonsense_Mutation_p.Q1334*|NUP98_uc001lyg.3_Nonsense_Mutation_p.Q299*	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1351					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCTGACTGCTGGGCCAGAGAG	0.542000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									112			34		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	14018855	14018856	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:14018855_14018856CC>TT	uc001rbt.2	-	1	466_467	c.287_288GG>AA	c.(286-288)ggg>gAA	p.G96E		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	96					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CAAACACCACCCCCTGGATCTT	0.569000														75			39		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554596	11554596	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:11554596C>T	uc002gne.3	+	12	2376	c.2308C>T	c.(2308-2310)Ctc>Ttc	p.L770F	DNAH9_uc010coo.3_Missense_Mutation_p.L64F	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	770	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.L770L(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAATATTGATCTCCGCCTCAG	0.428000														28			11		0	0	1	0	0
OR52E6	390078	broad.mit.edu	37	11	5862614	5862614	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5862614C>T	uc010qzq.2	-	0	514	c.514G>A	c.(514-516)Gga>Aga	p.G172R	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATACGATGTCCACAGAAGGGC	0.488000														62			20		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633770	70633770	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:70633770G>A	uc001xly.3	-	1	2124	c.1370C>T	c.(1369-1371)cCa>cTa	p.P457L	SLC8A3_uc001xlw.3_Missense_Mutation_p.P457L|SLC8A3_uc001xlx.3_Missense_Mutation_p.P457L|SLC8A3_uc001xlz.3_Missense_Mutation_p.P457L|SLC8A3_uc010ara.3_Non-coding_Transcript	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	457	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GGTCTCTCCTGGCTTCAGAAC	0.483000														110			80		0	0	1	0	0
FMO2	2327	broad.mit.edu	37	1	171168578	171168578	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:171168578G>A	uc001ghk.1	+	4	695	c.578G>A	c.(577-579)gGa>gAa	p.G193E	FMO2_uc010pmd.1_Intron	NM_001460	NP_001451	Q99518	FMO2_HUMAN	Homo sapiens flavin containing monooxygenase 2 (non-functional) (FMO2), mRNA.	193					NADPH oxidation|drug metabolic process|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATTGGAATGGGAAACTCAGGC	0.493000														46			10		0	0	1	0	0
KRT6A	3853	broad.mit.edu	37	12	52885331	52885331	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:52885331C>T	uc001sam.3	-	1	939	c.730G>A	c.(730-732)Gac>Aac	p.D244N		NM_005554	NP_005545	P02538	K2C6A_HUMAN	Homo sapiens keratin 6A (KRT6A), mRNA.	244	Coil 1B.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCACCAGGTCCTGCATGCCT	0.547000														133			14		0	0	1	0	0
RHOT1	55288	broad.mit.edu	37	17	30526561	30526561	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:30526561C>T	uc002hgw.3	+	12	1331	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	RHOT1_uc002hgy.3_Silent_p.S364S|RHOT1_uc002hgz.3_Silent_p.S364S|RHOT1_uc002hha.3_Silent_p.S237S|RHOT1_uc010csv.3_Non-coding_Transcript|RHOT1_uc002hgx.3_Silent_p.S237S|RHOT1_uc010wby.2_Silent_p.S364S|RHOT1_uc002hhb.3_Silent_p.S343S|RHOT1_uc002hgv.3_Silent_p.S364S	NM_001033568	NP_001028740	Q8IXI2	MIRO1_HUMAN	Homo sapiens ras homolog gene family, member T1 (RHOT1), transcript variant 1, mRNA.	364					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	GTP binding|GTPase activity|calcium ion binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GATTCCTTTCCCAGTGGACGT	0.388000														27			10		0	0	1	0	0
MYSM1	114803	broad.mit.edu	37	1	59132748	59132748	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:59132748G>A	uc009wab.2	-	15	2016	c.1993C>T	c.(1993-1995)Cct>Tct	p.P665S	MYSM1_uc001cza.3_Missense_Mutation_p.P71S|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	665	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CGTAAGGAAGGATTAGGATCA	0.398000														23			3		0	0	1	0	0
UGT2A1	10941	broad.mit.edu	37	4	70504813	70504813	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:70504813G>A	uc011caq.2	-	2	1265	c.1149C>T	c.(1147-1149)ttC>ttT	p.F383F	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Silent_p.F182F|UGT2A1_uc021xox.1_Silent_p.F182F|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	173					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATGCTGGAGAGAACCTCAATG	0.458000														21			6		0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156667160	156667160	+	Missense_Mutation	SNP	G	A	A	rs138078237		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:156667160G>A	uc003lwo.1	+	9	1022	c.940G>A	c.(940-942)Gat>Aat	p.D314N		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	314	SH2.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTATGTGTTCGATTCCATCCC	0.463000			T	SYK	peripheral T-cell lymphoma									33			25		0	0	1	0	0
OR5F1	338674	broad.mit.edu	37	11	55761181	55761181	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:55761181C>T	uc010riv.2	-	0	921	c.921G>A	c.(919-921)agG>agA	p.R307R		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGGTCCTTTTCCTGCTAATTA	0.358000														24			6		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170177374	170177374	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:170177374G>A	uc002ues.3	-	1	313	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	LRP2_uc010zdf.1_Missense_Mutation_p.R34C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	34	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTCCACAGCGAAAATGCGCA	0.413000														43			14		0	0	1	0	0
OR4N5	390437	broad.mit.edu	37	14	20612085	20612085	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:20612085G>A	uc010tla.2	+	0	191	c.191G>A	c.(190-192)gGc>gAc	p.G64D		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TTCTTTCTGGGCAACTTGGCC	0.463000														216			56		0	0	1	0	0
GHR	2690	broad.mit.edu	37	5	42718612	42718612	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:42718612G>A	uc021xxv.1	+	9	1161	c.1024G>A	c.(1024-1026)Gaa>Aaa	p.E342K	GHR_uc003jmt.3_Missense_Mutation_p.E335K|GHR_uc003jmu.3_Missense_Mutation_p.E335K|GHR_uc003jmv.2_Missense_Mutation_p.E335K|GHR_uc021xxw.1_Missense_Mutation_p.E335K|GHR_uc021xxx.1_Missense_Mutation_p.E335K|GHR_uc021xxy.1_Missense_Mutation_p.E335K|GHR_uc021xxz.1_Missense_Mutation_p.E335K|GHR_uc021xya.1_Missense_Mutation_p.E335K|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.E148K|GHR_uc021xyd.1_Missense_Mutation_p.E313K	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	335					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTATAAACCCGAATTCCACAG	0.368000														86			53		0	0	1	0	0
SPDYE7P	441251	broad.mit.edu	37	7	72336886	72336886	+	RNA	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:72336886C>T	uc010lal.1	-	0		c.2770G>A								Homo sapiens speedy homolog E7 (Xenopus laevis), pseudogene (SPDYE7P), non-coding RNA.																		ACTTCCCCCGCTGTCCCAGGG	0.468000														105			28		0	0	1	0	0
SLC14A2	8170	broad.mit.edu	37	18	43221223	43221223	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:43221223C>T	uc002lbe.3	+	7	1857	c.1041C>T	c.(1039-1041)agC>agT	p.S347S	SLC14A2_uc002lbb.3_Silent_p.S347S|SLC14A2_uc010dnj.3_Silent_p.S347S	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	347						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	p.S347R(2)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCTCTGGAGCTACAACTGCG	0.552000														39			12		0	0	1	0	0
CNOT10	25904	broad.mit.edu	37	3	32757801	32757801	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:32757801C>T	uc011axj.1	+	5	915	c.838C>T	c.(838-840)Cag>Tag	p.Q280*	CNOT10_uc011axi.1_5'UTR|CNOT10_uc003cfc.1_Nonsense_Mutation_p.Q220*|CNOT10_uc003cfd.1_Nonsense_Mutation_p.Q219*|CNOT10_uc003cfe.1_Nonsense_Mutation_p.Q220*|CNOT10_uc010hfv.1_Non-coding_Transcript|CNOT10_uc010hfw.1_5'UTR	NM_015442	NP_056257	Q9H9A5	CNOTA_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 10 (CNOT10), mRNA.	220					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						AAAGATACATCAGGTAGTATA	0.328000														19			9		0	0	1	0	0
TRIM55	84675	broad.mit.edu	37	8	67040673	67040673	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:67040673G>A	uc003xvv.3	+	1	529	c.303G>A	c.(301-303)gtG>gtA	p.V101V	TRIM55_uc003xvu.3_Silent_p.V101V|TRIM55_uc003xvw.3_Silent_p.V101V|TRIM55_uc003xvx.3_Silent_p.V101V	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	101						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACCTGCTGGTGGAAAATATCA	0.473000														88			19		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62299443	62299443	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:62299443G>A	uc001ntl.3	-	4	2746	c.2446C>T	c.(2446-2448)Ccc>Tcc	p.P816S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	816					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGATCTTGGGGACTTTGATG	0.438000														205			39		0	0	1	0	0
AGTR1	185	broad.mit.edu	37	3	148459237	148459237	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:148459237C>T	uc003ewg.3	+	3	861	c.415C>T	c.(415-417)Cga>Tga	p.R139*	AGTR1_uc003ewh.3_Nonsense_Mutation_p.R139*|AGTR1_uc003ewi.3_Nonsense_Mutation_p.R139*|AGTR1_uc003ewj.3_Nonsense_Mutation_p.R139*|AGTR1_uc003ewk.3_Nonsense_Mutation_p.R139*|AGTR1_uc021xfj.1_Nonsense_Mutation_p.R139*	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	139					Rho protein signal transduction|calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of NAD(P)H oxidase activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.R139*(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	GTCCCGCCTTCGACGCACAAT	0.478000														63			60		0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100349641	100349641	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:100349641G>A	uc003duc.3	+	2	590	c.322G>A	c.(322-324)Gat>Aat	p.D108N		NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGTGGCAAGGATACTCCAAA	0.388000														12			9		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764874	77764874	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:77764874G>A	uc003yau.2	+	9	6104	c.5717G>A	c.(5716-5718)gGa>gAa	p.G1906E	ZFHX4_uc003yaw.1_Missense_Mutation_p.G1861E	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1861						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGGGCCAGAGGAAATGCTGCC	0.443000										HNSCC(33;0.089)				16			7		0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117709096	117709096	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:117709096C>T	uc003pxp.1	-	12	2060	c.1861G>A	c.(1861-1863)Gaa>Aaa	p.E621K	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	621	Fibronectin type-III 3.				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)		TGAGTGACTTCAGGAGGGTCT	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									102			60		0	0	1	0	0
DMC1	11144	broad.mit.edu	37	22	38934387	38934387	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:38934387G>A	uc003avz.1	-	10	863	c.688C>T	c.(688-690)Cga>Tga	p.R230*	DMC1_uc011anv.1_Nonsense_Mutation_p.R175*	NM_007068	NP_008999	Q14565	DMC1_HUMAN	Homo sapiens DMC1 dosage suppressor of mck1 homolog, meiosis-specific homologous recombination (yeast) (DMC1), mRNA.	230					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					AAATCCACTCGAAAAAGTGCC	0.378000								Homologous recombination						35			10		0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18183155	18183155	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:18183155G>A	uc004cyj.4	-	13	2528	c.2374C>T	c.(2374-2376)Ccc>Tcc	p.P792S		NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	792										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GTGGCGTCGGGATCTCCTGGC	0.488000														47			27		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4673831	4673831	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:4673831G>A	uc021qcq.1	+	0	75	c.75G>A	c.(73-75)gaG>gaA	p.E25E	OR51E1_uc001lzi.4_Silent_p.E25E	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTAGAAGAGGCTCAGTTCT	0.493000														88			29		0	0	1	0	0
TBX1	6899	broad.mit.edu	37	22	19750792	19750792	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:19750792C>T	uc002zqa.1	+	3	568	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	TBX1_uc002zqb.3_Missense_Mutation_p.L147F|TBX1_uc002zqc.3_Missense_Mutation_p.L147F	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	147					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCAAGTGAAGCTCTTCGGCAT	0.617000														48			5		0	0	1	0	0
LIFR	3977	broad.mit.edu	37	5	38493882	38493882	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:38493882G>A	uc010ive.1	-	13	2223	c.1891C>T	c.(1891-1893)Ctc>Ttc	p.L631F	LIFR_uc003jli.2_Missense_Mutation_p.L631F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	631	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					TCTATTTTGAGATCATCTTCA	0.368000			T	PLAG1	salivary adenoma									52			16		0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789646	80789646	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:80789646C>T	uc002kga.3	-	1	996	c.685G>A	c.(685-687)Ggg>Agg	p.G229R	TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron	NM_024702	NP_078978	Q32MQ0	ZN750_HUMAN	Homo sapiens zinc finger protein 750 (ZNF750), mRNA.	229						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAAATGGCCCCAAGCCCCTTT	0.562000														49			18		0	0	1	0	0
ADCY3	109	broad.mit.edu	37	2	25059846	25059846	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:25059846G>A	uc010ykm.2	-	7	1801	c.1602C>T	c.(1600-1602)ccC>ccT	p.P534P	ADCY3_uc002rfr.4_Silent_p.P167P|ADCY3_uc002rfs.4_Silent_p.P534P	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	534					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CACTCCCGTTGGGCTCCTTGG	0.632000														31			6		0	0	1	0	0
C1QL2	165257	broad.mit.edu	37	2	119915315	119915315	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:119915315G>A	uc002tlo.2	-	0	1157	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_182528	NP_872334	Q7Z5L3	C1QL2_HUMAN	Homo sapiens complement component 1, q subcomponent-like 2 (C1QL2), mRNA.	177	C1q.					collagen				NS(1)|endometrium(1)|large_intestine(3)|pancreas(1)|prostate(1)	7						CCACGTCATCGAACTTCAGCA	0.577000										HNSCC(49;0.14)				29			9		0	0	1	0	0
ACSM2B	348158	broad.mit.edu	37	16	20566767	20566767	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:20566767C>T	uc002dhj.4	-	4	630	c.420G>A	c.(418-420)atG>atA	p.M140I	ACSM2B_uc002dhk.4_Missense_Mutation_p.M140I|ACSM2B_uc010bwf.1_Missense_Mutation_p.M140I	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	140					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						CAGTGGATTTCATCTGGATGG	0.428000														56			14		0	0	1	0	0
CD300E	342510	broad.mit.edu	37	17	72613434	72613434	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:72613434C>T	uc002jlb.2	-	1	348	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_181449	NP_852114	Q496F6	CLM2_HUMAN	Homo sapiens CD300e molecule (CD300E), mRNA.	71	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCATTCCTCTCCACCTTCTCT	0.522000														65			16		0	0	1	0	0
FBN1	2200	broad.mit.edu	37	15	48797260	48797260	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:48797260G>A	uc001zwx.2	-	15	2317	c.1922C>T	c.(1921-1923)cCt>cTt	p.P641L		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	641	EGF-like 10; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCAGTCCAGGGAAGCATTC	0.507000														94			26		0	0	1	0	0
TCP11L2	255394	broad.mit.edu	37	12	106717347	106717347	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:106717347G>A	uc001tln.3	+	5	869	c.695G>A	c.(694-696)aGt>aAt	p.S232N	TCP11L2_uc001tll.3_Missense_Mutation_p.S232N|TCP11L2_uc001tlm.3_Missense_Mutation_p.S232N	NM_152772	NP_689985	Q8N4U5	T11L2_HUMAN	Homo sapiens t-complex 11 (mouse)-like 2 (TCP11L2), mRNA.	232										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						ACAATTATGAGTCTCAGACCG	0.353000														25			5		0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128038624	128038624	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:128038624G>A	uc011kol.1	-	6	769	c.663C>T	c.(661-663)atC>atT	p.I221I	IMPDH1_uc011kom.1_Silent_p.I216I|IMPDH1_uc003vmt.2_Silent_p.I196I|IMPDH1_uc003vmu.2_Silent_p.I306I|IMPDH1_uc003vmx.2_Silent_p.I229I|IMPDH1_uc003vmy.2_Silent_p.I237I|IMPDH1_uc003vmw.2_Silent_p.I296I|IMPDH1_uc011kon.1_Silent_p.I273I|IMPDH1_uc003vmv.2_Silent_p.I270I	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	221	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	TGCGGGCGATGATGGCCACCA	0.582000											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		97			56		0	0	1	0	0
BAG3	9531	broad.mit.edu	37	10	121431895	121431895	+	Missense_Mutation	SNP	C	G	G	rs150379892		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:121431895C>G	uc001lem.3	+	2	942	c.636C>G	c.(634-636)caC>caG	p.H212Q	BAG3_uc001lel.3_Missense_Mutation_p.H212Q	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	212					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		CGGTGATACACGAGCAGAACG	0.657000														49			28		0	0	1	0	0
AOC3	8639	broad.mit.edu	37	17	41004296	41004296	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:41004296C>T	uc002ibv.3	+	0	1096	c.936C>T	c.(934-936)ccC>ccT	p.P312P		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	312					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GTCCAGCTCCCCCTCTACAGT	0.617000														32			6		0	0	1	0	0
DTNA	1837	broad.mit.edu	37	18	32457689	32457689	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:32457689G>A	uc010dmn.1	+	17	1830	c.1829G>A	c.(1828-1830)aGa>aAa	p.R610K	DTNA_uc002kxw.2_Missense_Mutation_p.R553K|DTNA_uc002kxz.2_Missense_Mutation_p.R557K|DTNA_uc002kxy.2_Missense_Mutation_p.R550K|DTNA_uc010dmj.3_Missense_Mutation_p.R550K|DTNA_uc010xby.1_Missense_Mutation_p.R300K|DTNA_uc002kye.3_Missense_Mutation_p.R258K|DTNA_uc010xca.2_Missense_Mutation_p.R262K|DTNA_uc010xbz.2_Missense_Mutation_p.R319K	NM_001390	NP_001381	Q9Y4J8	DTNA_HUMAN	Homo sapiens dystrobrevin, alpha (DTNA), transcript variant 1, mRNA.	610					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GAAGGTTCAAGAAGAAACTTA	0.358000														24			8		0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39795344	39795344	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:39795344C>T	uc002xjp.1	+	18	2267	c.2146C>T	c.(2146-2148)Cgt>Tgt	p.R716C	PLCG1_uc002xjo.1_Missense_Mutation_p.R716C|PLCG1_uc010zwe.1_Missense_Mutation_p.R342C|PLCG1_uc010ggf.3_Missense_Mutation_p.R66C	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	716	SH2 2.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAAGCATTGCCGTGTCCAGCA	0.552000														59			48		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142626174	142626174	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:142626174C>T	uc003wby.1	-	4	793	c.529G>A	c.(529-531)Gag>Aag	p.E177K	TRPV5_uc003wbz.3_Missense_Mutation_p.E177K	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	177					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CGCACGATCTCCTCGCTGTTC	0.617000														29			16		0	0	1	0	0
NYAP2	57624	broad.mit.edu	37	2	226447447	226447447	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:226447447C>T	uc002voe.2	+	3	1489	c.1314C>T	c.(1312-1314)tcC>tcT	p.S438S	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Silent_p.S208S	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	438	Pro-rich.																CCTCTCCCTCCCCCGTCAGCA	0.642000														36			11		0	0	1	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200818824	200818824	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:200818824G>A	uc001gvl.3	+	11	3230	c.2960G>A	c.(2959-2961)aGg>aAg	p.R987K	CAMSAP2_uc001gvk.3_Missense_Mutation_p.R976K|CAMSAP2_uc001gvm.3_Missense_Mutation_p.R960K	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	987						cytoplasm|microtubule	protein binding										AAAAGTCAAAGGACTCCTAGG	0.458000														58			26		0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29727892	29727892	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:29727892G>A	uc003afj.3	-	17	2510	c.2323C>T	c.(2323-2325)Ccc>Tcc	p.P775S	AP1B1_uc003afl.3_Missense_Mutation_p.P748S|AP1B1_uc003afi.3_Missense_Mutation_p.P768S|AP1B1_uc003afh.3_5'UTR|AP1B1_uc011ako.2_Missense_Mutation_p.P328S	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	775					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGGGTGGCGGGGGCCAGGCCA	0.677000														68			15		0	0	1	0	0
TRPC4	7223	broad.mit.edu	37	13	38266255	38266255	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:38266255G>A	uc010abx.3	-	3	1350	c.1115C>T	c.(1114-1116)tCc>tTc	p.S372F	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.S372F|TRPC4_uc001uws.3_Missense_Mutation_p.S372F|TRPC4_uc010tey.2_Missense_Mutation_p.S372F|TRPC4_uc010abw.3_Missense_Mutation_p.S199F|TRPC4_uc010aby.3_Missense_Mutation_p.S372F	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	372					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGTCAAATAGGAGGCTGTGTG	0.488000														41			18		0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197639929	197639929	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:197639929G>A	uc002uts.3	-	12	1899	c.1742C>T	c.(1741-1743)tCt>tTt	p.S581F	GTF3C3_uc010zgu.2_Missense_Mutation_p.S552F	NM_012086	NP_036218	Q9Y5Q9	TF3C3_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 3, 102kDa (GTF3C3), transcript variant 1, mRNA.	581						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CCTCTCTCCAGACTTGGAACT	0.343000														28			8		0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159901688	159901688	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:159901688C>T	uc001fur.2	-	10	1474	c.1276G>A	c.(1276-1278)Gaa>Aaa	p.E426K	IGSF9_uc001fuq.2_Missense_Mutation_p.E410K|IGSF9_uc001fup.2_5'UTR	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	426	Ig-like 5.					cell junction|integral to membrane|synapse		p.S425S(1)		central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AAATATTCTTCCTTGGGCCGC	0.577000														49			16		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50835824	50835824	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:50835824C>T	uc001jhz.2	+	6	1257	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	CHAT_uc001jhv.1_Silent_p.L250L|CHAT_uc001jhx.1_Silent_p.L250L|CHAT_uc001jhy.1_Silent_p.L250L|CHAT_uc001jia.2_Silent_p.L286L|CHAT_uc010qgs.1_Silent_p.L250L	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	368					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGACGGTCCTCGTGAAAGGTC	0.612000														22			33		0	0	1	0	0
TFF1	7031	broad.mit.edu	37	21	43786529	43786529	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:43786529C>T	uc002zax.1	-	0	116	c.76G>A	c.(76-78)Gcc>Acc	p.A26T		NM_003225	NP_003216	P04155	TFF1_HUMAN	Homo sapiens trefoil factor 1 (TFF1), mRNA.	26					carbohydrate metabolic process|response to estradiol stimulus		growth factor activity			cervix(1)|lung(1)	2						CCTGTCTGGGCCTCGGCCAGG	0.602000														26			6		0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220498001	220498001	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:220498001C>T	uc002vmo.4	+	9	1573	c.1364C>T	c.(1363-1365)cCc>cTc	p.P455L	SLC4A3_uc002vmp.4_Missense_Mutation_p.P428L|SLC4A3_uc010fwm.3_5'UTR|SLC4A3_uc010fwn.1_5'UTR	NM_201574	NP_963868	P48751	B3A3_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 3 (SLC4A3), transcript variant 2, mRNA.	428					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGCCATCCCAACGATGAC	0.582000														60			19		0	0	1	0	0
AKAP4	8852	broad.mit.edu	37	X	49958119	49958119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:49958119C>T	uc004dow.1	-	4	1369	c.1245G>A	c.(1243-1245)tgG>tgA	p.W415*	AKAP4_uc004dou.1_Nonsense_Mutation_p.W406*|AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Nonsense_Mutation_p.W237*	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	415					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATTTTGTTTCCACTGGTTGA	0.448000														23			28		0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113737711	113737711	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:113737711T>C	uc003eax.3	-	7	1124	c.977A>G	c.(976-978)cAa>cGa	p.Q326R	KIAA1407_uc011bin.1_Non-coding_Transcript|KIAA1407_uc011bio.1_Missense_Mutation_p.Q304R|KIAA1407_uc011bip.1_Missense_Mutation_p.Q313R	NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	326										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ATACCGTTTTTGACACTGCAG	0.473000														173			42		0	0	1	0	0
PLCB2	5330	broad.mit.edu	37	15	40590508	40590508	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:40590508C>T	uc001zld.3	-	10	1372	c.1071G>A	c.(1069-1071)gaG>gaA	p.E357E	PLCB2_uc010bbo.3_Silent_p.E357E|PLCB2_uc010ucm.2_Silent_p.E357E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	357	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGCAGTCTAGCTCCACGCAAC	0.597000														56			11		0	0	1	0	0
KIF4B	285643	broad.mit.edu	37	5	154396482	154396482	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:154396482C>T	uc010jih.1	+	0	3223	c.3063C>T	c.(3061-3063)atC>atT	p.I1021I		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1021	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGAATATATCCCACCTAAGC	0.408000														54			30		0	0	1	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553895	140553895	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140553895C>T	uc003lit.3	+	0	1653	c.1479C>T	c.(1477-1479)tcC>tcT	p.S493S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	493	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGTCCCAGGACCCGC	0.667000														101			102		0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268330	1268330	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:1268330C>T	uc010nyk.2	+	3	1305	c.1305C>T	c.(1303-1305)ttC>ttT	p.F435F		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	435					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	ACCTGACCTTCCACGTGGGCG	0.682000														28			10		0	0	1	0	0
SERPINB3	6317	broad.mit.edu	37	18	61309103	61309103	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:61309103A>G	uc002ljf.3	-	3	328	c.242T>C	c.(241-243)gTt>gCt	p.V81A	SERPINB3_uc002lje.3_Missense_Mutation_p.V81A|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	81					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CTGGTGATGAACATTTCCTGA	0.383000														46			23		0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7535019	7535020	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7535019_7535020CC>TT	uc002gie.2	+	4	706_707	c.668_669CC>TT	c.(667-669)ccc>cTT	p.P223L	SHBG_uc010cmu.2_Missense_Mutation_p.P165L|SHBG_uc010cmo.2_Missense_Mutation_p.P111L|SHBG_uc010cmp.2_Missense_Mutation_p.P165L|SHBG_uc010cmq.2_Missense_Mutation_p.P111L|SHBG_uc010cmr.2_Missense_Mutation_p.P111L|SHBG_uc010cms.2_Intron|SHBG_uc010cmt.2_Missense_Mutation_p.P165L|SHBG_uc010cmz.2_Missense_Mutation_p.P165L|SHBG_uc010cmv.2_Missense_Mutation_p.P111L|SHBG_uc010cmw.2_Missense_Mutation_p.P111L|SHBG_uc010cmx.2_Intron|SHBG_uc010cmy.2_Missense_Mutation_p.P165L|SHBG_uc002gid.3_Missense_Mutation_p.P165L|SHBG_uc010cnd.2_Missense_Mutation_p.P169L|SHBG_uc010cna.2_Intron|SHBG_uc010vue.1_Missense_Mutation_p.P205L|SHBG_uc010vuf.1_Missense_Mutation_p.P223L|SHBG_uc010cnb.2_Missense_Mutation_p.P223L|SHBG_uc010cnc.2_Missense_Mutation_p.P169L	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	223					hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.P223L(2)|p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GAATCAAATCCCGGGATATTTC	0.559000														179			51		0	0	1	0	0
HINFP	25988	broad.mit.edu	37	11	119002671	119002671	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:119002671C>T	uc001pvp.3	+	5	899	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C	HINFP_uc021qrj.1_Missense_Mutation_p.R219C|HINFP_uc001pvq.3_Missense_Mutation_p.R219C|HINFP_uc001pvr.3_5'UTR	NM_015517	NP_945322	Q9BQA5	HINFP_HUMAN	Homo sapiens histone H4 transcription factor (HINFP), transcript variant 1, mRNA.	219					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGATCACATCCGTCGCCAGAC	0.552000														44			15		0	0	1	0	0
TMED10P1	286102	broad.mit.edu	37	8	146220548	146220548	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:146220548G>A	uc003zey.3	+	0	298	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	ZNF252P_uc003zew.4_Intron|ZNF252P_uc011llo.2_Intron					Homo sapiens transmembrane emp24-like trafficking protein 10 (yeast) pseudogene 1 (TMED10P1), non-coding RNA.																		TACAACCAAGGGGAAATTTGC	0.458000														46			10		0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459200	27459200	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:27459200C>T	uc001itm.3	+	7	1915	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F	MASTL_uc001itl.3_Missense_Mutation_p.L438F|MASTL_uc009xkw.2_Missense_Mutation_p.L438F|MASTL_uc009xkx.2_Non-coding_Transcript	NM_001172303	NP_001165774	Q96GX5	GWL_HUMAN	Homo sapiens microtubule associated serine/threonine kinase-like (MASTL), transcript variant 1, mRNA.	438	Protein kinase.				G2/M transition of mitotic cell cycle|cell division|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGAAGAGCACCTTGGGAAAAG	0.343000														25			31		0	0	1	0	0
GALR1	2587	broad.mit.edu	37	18	74980632	74980632	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:74980632T>C	uc002lms.4	+	2	1321	c.824T>C	c.(823-825)tTc>tCc	p.F275S		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	275					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTTGGAGTTTTCCCGCTGACG	0.517000														74			23		0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569036	49569036	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:49569036G>A	uc021wxz.1	+	2	1561	c.1092G>A	c.(1090-1092)ggG>ggA	p.G364G	DAG1_uc021wya.1_Silent_p.G364G|DAG1_uc021wyb.1_Silent_p.G364G|DAG1_uc021wyc.1_Silent_p.G364G|DAG1_uc021wyd.1_Silent_p.G364G|DAG1_uc021wye.1_Silent_p.G364G|DAG1_uc021wyf.1_Silent_p.G364G|DAG1_uc021wyg.1_Silent_p.G364G|DAG1_uc021wyh.1_Silent_p.G364G|DAG1_uc021wyi.1_Silent_p.G364G|DAG1_uc021wyj.1_Silent_p.G364G|DAG1_uc021wyk.1_Silent_p.G364G|DAG1_uc003cxc.4_Silent_p.G364G	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	364	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CTGTTCCTGGGAAACCCACGG	0.602000														71			58		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702777	27702777	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:27702777C>T	uc001itu.2	-	0	521	c.403G>A	c.(403-405)Ggc>Agc	p.G135S		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	135					spermatid development	integral to membrane	hedgehog receptor activity	p.G135G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GGGTGCGCGCCCACCTGCCAC	0.672000														43			32		0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141501	41141501	+	Silent	SNP	T	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:41141501T>G	uc002ici.1	+	2	813	c.801T>G	c.(799-801)gtT>gtG	p.V267V		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	267										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		AACAGTTGGTTGAGCAACTGA	0.493000														28			15		0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32687959	32687960	+	Splice_Site	DNP	GG	AA	AA			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:32687959_32687960GG>AA	uc001bur.4	+	2	450	c.-83_splice	c.e2-1		TMEM234_uc001buo.3_5'Flank|TMEM234_uc001bup.3_5'Flank|TMEM234_uc009vub.1_5'Flank|TMEM234_uc010oha.2_5'Flank|TMEM234_uc001buq.4_5'Flank|EIF3I_uc009vuc.3_Splice_Site	NM_003757	NP_003748	Q13347	EIF3I_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit I (EIF3I), mRNA.							cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				GGGAACGAAGGGGCGGAGACCC	0.609000														41			20		0	0	1	0	0
HBD	3045	broad.mit.edu	37	11	5255238	5255238	+	Missense_Mutation	SNP	C	T	T	rs35329985		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5255238C>T	uc001maf.1	-	1	493	c.298G>A	c.(298-300)Gat>Aat	p.D100N		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	100			D -> N (in Canada; O(2) affinity up; dbSNP:rs35329985).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCAGGATCCACGTGCAGC	0.478000														47			18		0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	70007744	70007744	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:70007744G>A	uc001opj.3	+	17	2102	c.1797G>A	c.(1795-1797)gaG>gaA	p.E599E	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Silent_p.E541E|ANO1_uc010rqk.2_Silent_p.E308E	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	599					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAAAGACGGAGAAAAGCTTTG	0.552000														80			12		0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37566351	37566351	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:37566351A>C	uc002hrv.4	-	16	2335	c.2123T>G	c.(2122-2124)tTt>tGt	p.F708C	MED1_uc010wee.2_Missense_Mutation_p.F536C|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	708	Interaction with ESR1.|Interaction with GATA1 (By similarity).|Interaction with VDR.			Missing (in Ref. 9; AAC41736).	androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		CTCCCTCTGAAAGTCATCTTC	0.463000										HNSCC(31;0.082)				68			18		0	0	1	0	0
DQ656008	0	broad.mit.edu	37	11	5142484	5142484	+	RNA	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:5142484G>A	uc001maa.3	-	3		c.915C>T								Homo sapiens clone Affy08256A04, mRNA sequence.																		TGAAATGTGTGGATGAGCCAC	0.458000														28			10		0	0	1	0	0
NOB1	28987	broad.mit.edu	37	16	69778811	69778811	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:69778811G>A	uc002exs.3	-	7	950	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	312						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTGGGGTTGCGGGAGAAGTGC	0.587000														27			15		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34209138	34209138	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:34209138C>T	uc001bxm.1	-	13	2093	c.1916G>A	c.(1915-1917)gGc>gAc	p.G639D	CSMD2_uc001bxn.1_Missense_Mutation_p.G599D	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	599	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGGTGGTTGCCATAGTCCTC	0.562000														57			14		0	0	1	0	0
NLRC3	197358	broad.mit.edu	37	16	3614498	3614498	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:3614498G>A	uc010btn.3	-	4	851	c.440C>T	c.(439-441)gCc>gTc	p.A147V		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	147	NACHT.				I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCATGCCGGCCACCCCGAT	0.701000														70			16		0	0	1	0	0
LOC646813	646813	broad.mit.edu	37	11	50375323	50375323	+	RNA	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:50375323A>G	uc001nhe.2	+	2		c.214A>G			LOC646813_uc001nhf.1_Non-coding_Transcript|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_Non-coding_Transcript					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		ATTGATACCAACATGTTCTGT	0.378000														23			14		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13777373	13777373	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:13777373C>T	uc003jfd.2	-	53	9085	c.9043G>A	c.(9043-9045)Gac>Aac	p.D3015N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3015	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.D3015fs*12(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATCTCATTGTCTGTGAAAATA	0.343000									Kartagener syndrome					14			15		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163803	32163803	+	RNA	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:32163803G>A	uc002ecx.3	-	0		c.72C>T								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		AGCTGTGGGTGATGGAGCGGA	0.527000														39			33		0	0	1	0	0
TMCO7	79613	broad.mit.edu	37	16	68894292	68894292	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:68894292G>A	uc002ewi.4	+	1	612	c.600G>A	c.(598-600)aaG>aaA	p.K200K	TMCO7_uc002ewh.3_Silent_p.K200K	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	200						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		CCAGCTGCAAGGCCCTTCTGA	0.522000														121			78		0	0	1	0	0
LSP1	4046	broad.mit.edu	37	11	1908805	1908805	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:1908805C>T	uc001lui.3	+	10	1208	c.1033_splice	c.e10+1		LSP1_uc001luj.3_Splice_Site|LSP1_uc001luk.3_Splice_Site|LSP1_uc001lul.3_Splice_Site|LSP1_uc001lum.3_Splice_Site	NM_002339	NP_001013273	P33241	LSP1_HUMAN	Homo sapiens lymphocyte-specific protein 1 (LSP1), transcript variant 1, mRNA.						cellular component movement|cellular defense response	Golgi apparatus|actin cytoskeleton|plasma membrane	actin binding|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CGTCCCATCTCGGTGAGTCCC	0.612000														25			6		0	0	1	0	0
NR4A3	8013	broad.mit.edu	37	9	102590532	102590532	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:102590532G>A	uc022bky.1	+	3	1009	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	NR4A3_uc004bae.3_Missense_Mutation_p.E70K|NR4A3_uc004baf.1_Missense_Mutation_p.E70K	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	70					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				GAGCAACTACGAACTCAAGCC	0.597000			T	EWSR1	extraskeletal myxoid chondrosarcoma									41			45		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45016928	45016928	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:45016928G>A	uc010ejn.1	-	8	1527	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	CEACAM20_uc010ejo.1_Missense_Mutation_p.S504F|CEACAM20_uc010ejp.1_Missense_Mutation_p.S411F|CEACAM20_uc010ejq.1_Missense_Mutation_p.S411F	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	504						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCACTTACCGGAACTGGGCTC	0.602000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		13			9		0	0	1	0	0
HEATR8	374977	broad.mit.edu	37	1	55166821	55166821	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:55166821C>T	uc010ooe.1	+	18	3435	c.3111C>T	c.(3109-3111)gcC>gcT	p.A1037A	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ood.1_Silent_p.A555A|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Silent_p.A239A	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	1037						integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CACAGACCGCCAAGGTGAAGG	0.567000														13			5		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188167	57188167	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:57188167G>A	uc010kzo.3	-	4	1226	c.955C>T	c.(955-957)Cat>Tat	p.H319Y		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H319N(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTG	0.438000														33			18		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13839571	13839571	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:13839571C>T	uc003jfd.2	-	34	5818	c.5776G>A	c.(5776-5778)Gaa>Aaa	p.E1926K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1926	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGAATCTTCGTTAAAGTAA	0.383000									Kartagener syndrome					27			8		0	0	1	0	0
GNA13	10672	broad.mit.edu	37	17	63049743	63049743	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:63049743G>A	uc002jfc.3	-	1	596	c.387C>T	c.(385-387)gcC>gcT	p.A129A	GNA13_uc010wqh.2_Silent_p.A34A	NM_006572	NP_006563	Q14344	GNA13_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 13 (GNA13), mRNA.	129					Rho protein signal transduction|activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						CTGCCATGGGGGCCCGGGTAT	0.483000														83			26		0	0	1	0	0
GCG	2641	broad.mit.edu	37	2	163002098	163002098	+	Missense_Mutation	SNP	G	A	A	rs5650		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:163002098G>A	uc002ucc.3	-	3	600	c.344C>T	c.(343-345)gCt>gTt	p.A115V		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	115			A -> V (in dbSNP:rs5650).		cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TTCCTTGGCAGCTTGGCCTTC	0.408000														64			20		0	0	1	0	0
GALNT14	79623	broad.mit.edu	37	2	31181291	31181291	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:31181291G>A	uc002rns.3	-	4	1093	c.453C>T	c.(451-453)atC>atT	p.I151I	GALNT14_uc002rnq.3_Silent_p.I126I|GALNT14_uc010ymr.2_Silent_p.I111I|GALNT14_uc002rnr.3_Silent_p.I146I|GALNT14_uc010ezo.2_Silent_p.I113I|GALNT14_uc010ezp.1_Silent_p.I117I	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	146	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCACTAATATGATTTCCCGGA	0.433000														27			9		0	0	1	0	0
NTRK1	4914	broad.mit.edu	37	1	156849818	156849818	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:156849818C>T	uc001fqh.1	+	15	2130	c.2074C>T	c.(2074-2076)Cgc>Tgc	p.R692C	NTRK1_uc001fqf.1_Missense_Mutation_p.R656C|NTRK1_uc009wsi.1_Missense_Mutation_p.R391C|NTRK1_uc001fqi.1_Missense_Mutation_p.R686C|NTRK1_uc009wsk.1_Missense_Mutation_p.R689C	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	692	Protein kinase.				Ras protein signal transduction|activation of MAPKK activity|activation of adenylate cyclase activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.R692C(2)|p.R656C(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GCTGCCCATTCGCTGGATGCC	0.647000			T	"""TPM3, TPR, TFG"""	papillary thyroid					TSP Lung(10;0.080)				53			17		0	0	1	0	0
DHX8	1659	broad.mit.edu	37	17	41598900	41598900	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:41598900A>G	uc002idu.1	+	20	3302	c.3230A>G	c.(3229-3231)gAc>gGc	p.D1077G	DHX8_uc010wig.2_Missense_Mutation_p.D1077G	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1077						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CGGGCCCAGGACATTCGCAAG	0.483000														66			20		0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158395120	158395120	+	Nonsense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:158395120G>A	uc002tzk.4	-	7	1564	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*	ACVR1C_uc002tzl.4_Nonsense_Mutation_p.R361*|ACVR1C_uc010fof.3_Nonsense_Mutation_p.R284*|ACVR1C_uc010foe.3_Nonsense_Mutation_p.R391*	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	441	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	ATP binding|activin receptor activity, type I|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATACTTGGTCGAAACTTCTGG	0.388000														41			8		0	0	1	0	0
ZNF716	441234	broad.mit.edu	37	7	57528865	57528865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:57528865G>A	uc011kdi.1	+	3	810	c.698G>A	c.(697-699)aGa>aAa	p.R233K		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						AGACATAAAAGAATTCATACT	0.378000														10			3		0	0	1	0	0
VIPR1	7433	broad.mit.edu	37	3	42572997	42572997	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:42572997C>T	uc003clf.2	+	7	949	c.825C>T	c.(823-825)atC>atT	p.I275I	VIPR1_uc021wwl.1_Silent_p.I234I|VIPR1_uc011azn.2_Silent_p.I248I|VIPR1_uc011azl.1_Silent_p.I227I|VIPR1_uc011azm.1_Silent_p.I65I|VIPR1_uc003clg.2_5'Flank	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	275					G-protein signaling, coupled to cyclic nucleotide second messenger|digestion|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TGTGGACCATCGCCAGGATCC	0.607000														4			5		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262047	39262047	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:39262047A>G	uc010wfp.2	+	0	407	c.407A>G	c.(406-408)aAg>aGg	p.K136R		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	136	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						agctgctgcaagccccagtgc	0.652000														28			3		0	0	1	0	0
MAPT	4137	broad.mit.edu	37	17	44049230	44049230	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:44049230C>T	uc002ijr.4	+	2	461	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	MAPT_uc010dau.3_Missense_Mutation_p.P47S|MAPT_uc002ijs.4_Missense_Mutation_p.P47S|MAPT_uc002ijx.4_Missense_Mutation_p.P47S|MAPT_uc021tyv.1_Missense_Mutation_p.P47S|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Missense_Mutation_p.P47S|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	47					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCCAGAATCTCCCCTGCAGAC	0.602000														28			12		0	0	1	0	0
OR4D2	124538	broad.mit.edu	37	17	56247028	56247028	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:56247028G>A	uc010wnp.2	+	0	12	c.12G>A	c.(10-12)ggG>ggA	p.G4G		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G4E(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TGGAAACAGGGAACCTCACGT	0.488000														73			14		0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36898459	36898459	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:36898459G>A	uc003cgj.3	-	11	2870	c.2622C>T	c.(2620-2622)atC>atT	p.I874I		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	874					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGTGGCAATGATCTTCTCAG	0.532000														6			10		0	0	1	0	0
ABP1	26	broad.mit.edu	37	7	150554921	150554921	+	Missense_Mutation	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:150554921A>G	uc003why.1	+	2	5581	c.1363A>G	c.(1363-1365)Act>Gct	p.T455A	ABP1_uc003whz.1_Missense_Mutation_p.T455A|ABP1_uc003wia.1_Missense_Mutation_p.T455A	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	455					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GCTGCGGACAACTTCAACTGT	0.537000														82			32		0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128490508	128490508	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:128490508C>T	uc003vnz.4	+	31	5578	c.5369C>T	c.(5368-5370)cCc>cTc	p.P1790L	FLNC_uc003voa.4_Missense_Mutation_p.P1757L	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1790					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGTCATCCCCTTCGCGGTG	0.612000														102			44		0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7534037	7534037	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7534037G>A	uc002gie.2	+	2	281	c.243G>A	c.(241-243)gaG>gaA	p.E81E	SHBG_uc010cmu.2_Silent_p.E23E|SHBG_uc010cmo.2_Silent_p.E23E|SHBG_uc010cmp.2_Silent_p.E23E|SHBG_uc010cmq.2_Silent_p.E23E|SHBG_uc010cmr.2_Silent_p.E23E|SHBG_uc010cms.2_Silent_p.E23E|SHBG_uc010cmt.2_Silent_p.E23E|SAT2_uc002gib.1_5'Flank|SAT2_uc002gic.2_5'Flank|SHBG_uc010cmz.2_Silent_p.E23E|SHBG_uc010cmv.2_Silent_p.E23E|SHBG_uc010cmw.2_Silent_p.E23E|SHBG_uc010cmx.2_Silent_p.E23E|SHBG_uc010cmy.2_Silent_p.E23E|SHBG_uc002gid.3_Silent_p.E23E|SHBG_uc010cnd.2_Silent_p.E81E|SHBG_uc010cna.2_Silent_p.E81E|SHBG_uc010vue.1_Silent_p.E81E|SHBG_uc010vuf.1_Silent_p.E81E|SHBG_uc010cnb.2_Silent_p.E81E|SHBG_uc010cnc.2_Silent_p.E81E	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	81	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGGACCCAGAGGGAGTGATTT	0.512000														30			6		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703390	4703390	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:4703390C>T	uc001lzk.2	-	1	796	c.552G>A	c.(550-552)atG>atA	p.M184I	OR51E2_uc021qcr.1_Missense_Mutation_p.M184I	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M184I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AGGCCAACTTCATTACATCCT	0.498000														50			8		0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38628988	38628989	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:38628988_38628989CC>TT	uc021wvo.1	-	13	2390_2391	c.2338_2339GG>AA	c.(2338-2340)ggc>AAc	p.G780N	SCN5A_uc021wvk.1_Missense_Mutation_p.G780N|SCN5A_uc021wvl.1_Missense_Mutation_p.G780N|SCN5A_uc021wvm.1_Missense_Mutation_p.G780N|SCN5A_uc021wvn.1_Missense_Mutation_p.G780N|SCN5A_uc021wvp.1_Missense_Mutation_p.G780N|SCN5A_uc021wvq.1_Missense_Mutation_p.G780N|SCN5A_uc021wvr.1_Missense_Mutation_p.G780N|SCN5A_uc021wvs.1_Missense_Mutation_p.G780N|SCN5A_uc021wvt.1_Missense_Mutation_p.G780N|SCN5A_uc021wvu.1_Missense_Mutation_p.G780N|SCN5A_uc021wvv.1_Missense_Mutation_p.G780N|SCN5A_uc021wvj.1_Missense_Mutation_p.G646N|SCN5A_uc021wvi.1_Missense_Mutation_p.G646N|SCN5A_uc021wvw.1_Missense_Mutation_p.G391N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	780					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GATGTTCCAGCCCTGTTGGAAG	0.540000														17			8		0	0	1	0	0
AEBP2	121536	broad.mit.edu	37	12	19615523	19615523	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:19615523A>C	uc001ref.2	+	1	777	c.751A>C	c.(751-753)Agc>Cgc	p.S251R	AEBP2_uc001ree.2_Missense_Mutation_p.S251R|AEBP2_uc001reg.1_Missense_Mutation_p.S22R	NM_001114176	NP_001107648	Q6ZN18	AEBP2_HUMAN	Homo sapiens AE binding protein 2 (AEBP2), transcript variant 2, mRNA.	251	Interaction with RBBP4.|Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					TGGACAAGGAAGCACTACTTC	0.433000														17			10		0	0	1	0	0
SMC4	10051	broad.mit.edu	37	3	160150895	160150895	+	Silent	SNP	A	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:160150895A>G	uc003fdh.3	+	22	3725	c.3612A>G	c.(3610-3612)gtA>gtG	p.V1204V	IFT80_uc003fda.3_Intron|SMC4_uc003fdi.3_Silent_p.V1179V|SMC4_uc003fdj.3_Silent_p.V1204V|SMC4_uc010hwd.3_Silent_p.V1146V|SMC4_uc003fdl.3_Silent_p.V907V	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	1204	Ala/Asp-rich (DA-box).				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGCTTTAGTATTTGCTCTTC	0.368000														52			26		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466880	50466880	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:50466880C>T	uc001vdk.2	+	0	2336	c.2154C>T	c.(2152-2154)ttC>ttT	p.F718F						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		GACCTCCTTTCCCTCCACCTC	0.532000														135			46		0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47939335	47939335	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:47939335G>A	uc003gxu.3	-	9	1524	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.I392I	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	392					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTTACCAACGATGGTAGCAA	0.398000														48			34		0	0	1	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40729482	40729482	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:40729482C>T	uc002iai.2	-	1	175	c.132G>A	c.(130-132)aaG>aaA	p.K44K	PSMC3IP_uc002iaj.3_5'UTR|PSMC3IP_uc010wgp.1_Non-coding_Transcript|PSMC3IP_uc002iak.2_Silent_p.K44K|PSMC3IP_uc010wgn.1_5'UTR|PSMC3IP_uc010wgo.1_Non-coding_Transcript	NM_016556	NP_057640	Q9P2W1	HOP2_HUMAN	Homo sapiens PSMC3 interacting protein (PSMC3IP), transcript variant 2, mRNA.	44					DNA recombination|meiosis	nucleus	DNA binding	p.G43D(1)		endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TCCTCACCGCCTTGCCCAGTC	0.632000														22			4		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77723022	77723022	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:77723022C>T	uc001xtf.2	+	23	2586	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*	TMEM63C_uc010asq.1_Nonsense_Mutation_p.Q792*	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	792						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		AGACTCGGCCCAGTTCCAGGA	0.627000														88			29		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967172	87967172	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:87967172C>T	uc003plm.4	+	7	3866	c.3825C>T	c.(3823-3825)ttC>ttT	p.F1275F		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTCTCTCTTCCCTTCACCAG	0.383000														16			3		0	0	1	0	0
PEX11A	8800	broad.mit.edu	37	15	90226942	90226942	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:90226942C>T	uc002boi.3	-	2	505	c.410G>A	c.(409-411)aGg>aAg	p.R137K	PEX11A_uc010upy.2_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.	137					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATACAGATCCCTGACCAGGCT	0.502000														68			85		0	0	1	0	0
SLC4A2	6522	broad.mit.edu	37	7	150769181	150769181	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:150769181C>T	uc022apz.1	+	15	3533	c.2493C>T	c.(2491-2493)atC>atT	p.I831I	SLC4A2_uc003wit.4_Silent_p.I831I|SLC4A2_uc011kve.2_Silent_p.I822I|SLC4A2_uc003wiu.4_Silent_p.I817I	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	831	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCTTGATCTCACTCATCT	0.622000														165			65		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79461540	79461540	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:79461540C>T	uc010mpk.3	-	3	523	c.399G>A	c.(397-399)caG>caA	p.Q133Q	PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Silent_p.Q133Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	133					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGGCATCGCTCTGCTCAACCG	0.478000														23			21		0	0	1	0	0
CYP4B1	1580	broad.mit.edu	37	1	47264920	47264920	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:47264920G>A	uc001cqn.4	+	0	251	c.167G>A	c.(166-168)gGa>gAa	p.G56E	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.G56E|CYP4B1_uc009vym.3_Missense_Mutation_p.G56E|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	56					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGGCTTTTTGGACATGCCCTC	0.567000														4			4		0	0	1	0	0
SPDYE1	285955	broad.mit.edu	37	7	44040865	44040865	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:44040865G>A	uc003tjf.3	+	0	377	c.241G>A	c.(241-243)Gac>Aac	p.D81N	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	81										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GCACCACAAGGACTTCAACAG	0.517000														36			6		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46060239	46060239	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:46060239G>A	uc003gxb.3	-	6	1063	c.911C>T	c.(910-912)tCg>tTg	p.S304L		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	304					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CATACCCAACGATGTTCTTGC	0.323000														29			19		0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262039	39262039	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:39262039C>G	uc010wfp.2	+	0	399	c.399C>G	c.(397-399)agC>agG	p.S133R		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	133	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament		p.S133R(2)|p.S121R(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gtgtgtccagctgctgcaagc	0.652000														29			3		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140306769	140306769	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:140306769G>A	uc003lih.2	+	0	468	c.292G>A	c.(292-294)Gac>Aac	p.D98N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.D98N	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	122	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGACCTACGACCTGGTGCT	0.607000														21			29		0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	77064215	77064215	+	Silent	SNP	A	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:77064215A>T	uc002bby.3	-	8	1175	c.1116T>A	c.(1114-1116)gcT>gcA	p.A372A	SCAPER_uc002bbx.3_Silent_p.A126A|SCAPER_uc002bbz.1_Silent_p.A237A|SCAPER_uc002bca.1_Silent_p.A237A|SCAPER_uc002bcb.1_Silent_p.A372A|SCAPER_uc002bcc.1_Silent_p.A372A	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	371						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CAATGTGGACAGCAGATATTT	0.383000														41			58		0	0	1	0	0
CBLN2	147381	broad.mit.edu	37	18	70205504	70205504	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:70205504C>T	uc002lku.2	-	3	817	c.582G>A	c.(580-582)agG>agA	p.R194R	CBLN2_uc002lkv.2_Silent_p.R194R	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	194	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				CTTTGTCTTCCCTTTCCATGA	0.502000														65			19		0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934459	28934459	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:28934459C>T	uc002kwp.3	+	14	2512	c.2300C>T	c.(2299-2301)tCa>tTa	p.S767L	DSG1_uc010xbp.2_Missense_Mutation_p.S126L	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	767					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GGAAAAGAATCATATCCAGAC	0.478000														58			17		0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73961692	73961692	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:73961692G>A	uc004eby.3	-	2	3317	c.2700C>T	c.(2698-2700)ttC>ttT	p.F900F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	900					DNA replication proofreading|DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTCAGCCATGAATTCCTGGG	0.463000														9			17		0	0	1	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333994	35333994	+	Splice_Site	SNP	C	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:35333994C>G	uc001mwd.3	-	4	903	c.311_splice	c.e4-1	p.G104_splice	SLC1A2_uc021qfx.1_Splice_Site_p.G95_splice|SLC1A2_uc001mwe.3_Splice_Site_p.G95_splice|SLC1A2_uc010rev.1_Splice_Site_p.G104_splice	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	104					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	GGCCTGACAACCCTGGATTGA	0.448000														30			12		0	0	1	0	0
DET1	55070	broad.mit.edu	37	15	89074577	89074577	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:89074577G>A	uc002bmq.2	-	2	582	c.393C>T	c.(391-393)ctC>ctT	p.L131L	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Silent_p.L120L|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	120						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGCGTTCAAAGAGCCGGCCCC	0.552000														19			20		0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780131	137780131	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:137780131C>T	uc003lda.3	+	3	332	c.210C>T	c.(208-210)atC>atT	p.I70I	REEP2_uc003lcz.3_Silent_p.I70I|REEP2_uc011cyt.2_Silent_p.I31I	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	70						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AACTGAAGATCGCCTTCGTGA	0.592000														30			42		0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77912994	77912994	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:77912994G>A	uc022bzi.1	-	0	924	c.924C>T	c.(922-924)ttC>ttT	p.F308F	ZCCHC5_uc004edc.1_Silent_p.F308F	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	308							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCACAGGTATGAAACTTTCAC	0.478000														4			7		0	0	1	0	0
DLGAP4	22839	broad.mit.edu	37	20	35060416	35060416	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:35060416G>A	uc002xff.3	+	2	731	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	DLGAP4_uc010zvp.2_Missense_Mutation_p.R99Q	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	99					cell-cell signaling	membrane	protein binding	p.N98N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGATCAACCGGCTGCCCGCC	0.637000														83			45		0	0	1	0	0
MATN4	8785	broad.mit.edu	37	20	43926816	43926816	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:43926816C>T	uc002xnn.2	-	6	1607	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	MATN4_uc002xnp.2_Missense_Mutation_p.E392K|MATN4_uc002xno.2_Missense_Mutation_p.E433K|MATN4_uc010zwr.1_Missense_Mutation_p.E422K|MATN4_uc002xnr.1_Missense_Mutation_p.E474K	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	515	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CCACCTTCCTCCTTGGCGCGC	0.682000														90			29		0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46656336	46656336	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:46656336C>T	uc003bhh.3	-	0	2884	c.2884G>A	c.(2884-2886)Gca>Aca	p.A962T		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.	962					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)		TTAAAAGCTGCAAAGGTCAAG	0.478000														132			36		0	0	1	0	0
NOMO1	23420	broad.mit.edu	37	16	14972645	14972645	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:14972645C>T	uc002dcv.3	+	22	2777	c.2711C>T	c.(2710-2712)tCc>tTc	p.S904F		NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	904						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CTGTTTCGTTCCAACCTCTTG	0.537000														217			28		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735663	76735664	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:76735663_76735664CC>TT	uc001jwn.1	+	7	2061_2062	c.1568_1569CC>TT	c.(1567-1569)tcc>tTT	p.S523F	KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Intron	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	523	Negatively regulates HAT activity.|Poly-Ser.|Ser-rich.				histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CAGAGTTCTTCCAGCCAGTGCA	0.559000														26			37		0	0	1	0	0
TUT1	64852	broad.mit.edu	37	11	62359052	62359052	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:62359052G>A	uc001nto.2	-	0	58	c.20C>T	c.(19-21)tCg>tTg	p.S7L		NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	0					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|RNA uridylyltransferase activity|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AACTTCCGCCGATCCGATAGG	0.562000														10			6		0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14549126	14549126	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:14549126G>A	uc021wtn.1	-	19	2449	c.2449C>T	c.(2449-2451)Cac>Tac	p.H817Y	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	721					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TGCAGGAGGTGGATGGCCTCG	0.602000														27			30		0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90418324	90418324	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:90418324G>A	uc003pnn.1	-	50	7905	c.7789C>T	c.(7789-7791)Ccc>Tcc	p.P2597S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2597					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCCATCGGGGATCCAGAGGG	0.408000														81			59		0	0	1	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45197981	45197981	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:45197981T>G	uc003bfd.3	+	8	1143	c.866T>G	c.(865-867)gTt>gGt	p.V289G	PRR5-ARHGAP8_uc011aqi.2_Missense_Mutation_p.V157G|PRR5-ARHGAP8_uc011aqj.2_Missense_Mutation_p.V71G|PRR5-ARHGAP8_uc003bfi.3_Missense_Mutation_p.V35G|PRR5-ARHGAP8_uc010gzv.3_Missense_Mutation_p.V35G|PRR5-ARHGAP8_uc003bfj.3_Missense_Mutation_p.V35G|PRR5-ARHGAP8_uc003bfk.3_Missense_Mutation_p.V35G|PRR5-ARHGAP8_uc003bfl.3_Intron|PRR5-ARHGAP8_uc003bfg.1_Missense_Mutation_p.V71G	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GGAAGACGTGTTGTCACGTTC	0.582000														84			15		0	0	1	0	0
RNF135	84282	broad.mit.edu	37	17	29326074	29326074	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:29326074C>T	uc002hfz.3	+	4	1300	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	RNF135_uc010csm.3_3'UTR|RNF135_uc002hga.3_3'UTR|RNF135_uc002hgb.3_3'UTR	NM_032322	NP_115698	Q8IUD6	RN135_HUMAN	Homo sapiens ring finger protein 135 (RNF135), transcript variant 1, mRNA.	388	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				GAAAGCTTGCCTTCTATTCAG	0.532000														34			21		0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30705003	30705003	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:30705003C>T	uc003xil.3	-	0	1531	c.1531G>A	c.(1531-1533)Gaa>Aaa	p.E511K		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	511										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTGAAATTTTCGTTTGTATGA	0.303000														22			11		0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73785298	73785298	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:73785298C>T	uc001ouu.2	-	24	5178	c.4951_splice	c.e24+1	p.G1651_splice	C2CD3_uc001out.3_Splice_Site	NM_015531	NP_056346	Q4AC94	C2CD3_HUMAN	Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA.	1651	C2 2.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GAGAGCATACCTTTCAAGCTC	0.483000														33			7		0	0	1	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57076242	57076242	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:57076242G>A	uc001njr.3	-	4	4255	c.3943C>T	c.(3943-3945)Ctg>Ttg	p.L1315L	TNKS1BP1_uc001njs.3_Silent_p.L1315L|TNKS1BP1_uc009ymd.1_Silent_p.L766L	NM_033396	NP_203754	Q9C0C2	TB182_HUMAN	Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA.	1315	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCAGGCCCAGATTGTTACCC	0.602000														160			56		0	0	1	0	0
PHIP	55023	broad.mit.edu	37	6	79787191	79787191	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:79787191C>T	uc011dyp.2	-	3	389	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PHIP_uc003pir.3_Missense_Mutation_p.E55K	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN	Homo sapiens pleckstrin homology domain interacting protein (PHIP), mRNA.	55					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ctgggatgctccttcccggtc	0.617000														107			28		0	0	1	0	0
SLC22A16	85413	broad.mit.edu	37	6	110746229	110746229	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:110746229G>A	uc003puf.3	-	7	1648	c.1581C>T	c.(1579-1581)acC>acT	p.T527T	SLC22A16_uc003pue.3_Silent_p.T508T	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	527					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GTTTCCCAAGGGTTTCTGGAA	0.408000														59			36		0	0	1	0	0
UBOX5	22888	broad.mit.edu	37	20	3102730	3102730	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:3102730G>A	uc002whw.3	-	2	725	c.555C>T	c.(553-555)atC>atT	p.I185I	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whx.3_Silent_p.I185I|UBOX5_uc002why.1_Silent_p.I185I	NM_014948	NP_055763	O94941	RNF37_HUMAN	Homo sapiens U-box domain containing 5 (UBOX5), transcript variant 1, mRNA.	185						nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						TGATACAAGGGATACCGCCGC	0.572000														35			36		0	0	1	0	0
CNOT1	23019	broad.mit.edu	37	16	58621701	58621701	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:58621701G>A	uc002env.3	-	3	585	c.292C>T	c.(292-294)Cca>Tca	p.P98S	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Missense_Mutation_p.P98S|CNOT1_uc002enx.3_Missense_Mutation_p.P98S|CNOT1_uc002enz.1_Intron	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	98					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGTGCAATGGATTATCAATG	0.358000														26			13		0	0	1	0	0
SLC5A8	160728	broad.mit.edu	37	12	101552059	101552059	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:101552059C>T	uc001thz.4	-	13	2068	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	560					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.E559*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GATAAAAAGTCCTCTTTGGTT	0.338000														45			13		0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43773551	43773551	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:43773551C>T	uc002owd.4	-	0	132	c.33G>A	c.(31-33)caG>caA	p.Q11Q	PSG9_uc002owe.4_Silent_p.Q11Q|PSG9_uc010xwm.2_Silent_p.Q11Q|PSG9_uc002owf.4_Silent_p.Q11Q|PSG9_uc002owg.2_Silent_p.Q11Q	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	11					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AGGTGATGCGCTGTGTGCAGG	0.622000														74			26		0	0	1	0	0
PI3	5266	broad.mit.edu	37	20	43803610	43803610	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:43803610G>A	uc002xng.3	+	0	71	c.47G>A	c.(46-48)gGg>gAg	p.G16E		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	16					copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTCATCGCTGGGACGCTGGTT	0.572000														54			33		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066362	31066362	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:31066362C>T	uc002yno.1	-	1	603	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	GRIK1_uc002ynn.3_Missense_Mutation_p.E47K|GRIK1_uc011acs.2_Missense_Mutation_p.E47K|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Intron|GRIK1_uc002ynr.3_Missense_Mutation_p.E47K	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	47					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGCTCATTTTCCACTGTTTCA	0.358000														36			6		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237965207	237965207	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:237965207C>T	uc001hyl.1	+	97	14262	c.14142C>T	c.(14140-14142)ttC>ttT	p.F4714F	RYR2_uc010pyb.1_Silent_p.F147F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4714					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAGTCGTTTTCACTGACAACG	0.368000														11			10		0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56086993	56086993	+	Missense_Mutation	SNP	C	T	T	rs144983062	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:56086993C>T	uc001shh.3	-	19	2876	c.2656G>A	c.(2656-2658)Gag>Aag	p.E886K	ITGA7_uc001shg.3_Missense_Mutation_p.E882K|ITGA7_uc010sps.2_Missense_Mutation_p.E789K|ITGA7_uc009znw.3_Missense_Mutation_p.E129K|ITGA7_uc009znx.3_Missense_Mutation_p.E763K	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	926					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.G885G(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCTCCAGCTCAACCTGCATT	0.602000														84			34		0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42635417	42635417	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:42635417G>A	uc010ggo.3	+	2	436	c.396G>A	c.(394-396)tcG>tcA	p.S132S	TOX2_uc002xle.4_Silent_p.S90S|TOX2_uc010ggp.3_Silent_p.S90S|TOX2_uc002xlf.4_Silent_p.S141S|Metazoa_SRP_uc021wdz.1_5'Flank	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			ACCTGCTGTCGGGCCAGCTGC	0.592000														43			8		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9984935	9984935	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:9984935C>T	uc010uym.2	-	4	1340	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N	GRIN2A_uc002czo.4_Missense_Mutation_p.D344N|GRIN2A_uc010uyn.2_Missense_Mutation_p.D187N|GRIN2A_uc002czr.4_Missense_Mutation_p.D344N	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	344					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.W343*(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTTTGCCATCCCATGTAACA	0.438000														39			29		0	0	1	0	0
LRRC30	339291	broad.mit.edu	37	18	7231695	7231695	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:7231695G>A	uc010wzk.2	+	0	559	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	187										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTCCCTGAAGGAACTGATTTT	0.547000														73			18		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977820	70977820	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:70977820G>A	uc002ezr.3	-	41	6712	c.6561C>T	c.(6559-6561)atC>atT	p.I2187I		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2188										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCCAGCGGTGGATGGGCCCCG	0.582000														20			6		0	0	1	0	0
PFKFB4	5210	broad.mit.edu	37	3	48557221	48557221	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:48557221G>A	uc003ctv.3	-	13	1386	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	PFKFB4_uc003ctx.3_Missense_Mutation_p.P414S|PFKFB4_uc010hkb.3_Missense_Mutation_p.P450S|PFKFB4_uc003ctw.3_Missense_Mutation_p.P266S|PFKFB4_uc010hkc.3_Missense_Mutation_p.P422S|PFKFB4_uc011bbm.2_Missense_Mutation_p.P446S	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	457	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCCTCTGGAGGTCTTGAGATG	0.537000														21			32		0	0	1	0	0
ITIH1	3697	broad.mit.edu	37	3	52813518	52813518	+	Nonsense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:52813518C>T	uc003dfs.3	+	4	511	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Nonsense_Mutation_p.Q19*|ITIH1_uc021wzg.1_5'Flank|ITIH1_uc021wzh.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	161	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity	p.Q161H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GGTCACGTTTCAGCTGACTTA	0.498000														23			34		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86124489	86124489	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:86124489C>T	uc002blv.1	+	6	3360	c.3190C>T	c.(3190-3192)Cct>Tct	p.P1064S	AKAP13_uc002blt.1_Missense_Mutation_p.P1064S|AKAP13_uc002blu.1_Missense_Mutation_p.P1064S|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	1064					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCAGCCTTCTCCTCTGGATGT	0.532000														71			14		0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21493040	21493040	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:21493040C>T	uc002wsi.3	-	1	700	c.343G>A	c.(343-345)Gac>Aac	p.D115N		NM_002509	NP_002500	O95096	NKX22_HUMAN	Homo sapiens NK2 homeobox 2 (NKX2-2), mRNA.	115					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GTCTCCTTGTCATTGTCCGGT	0.697000														15			6		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7401001	7401001	+	Silent	SNP	C	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7401001C>A	uc002ghf.4	+	6	1400	c.1014C>A	c.(1012-1014)tcC>tcA	p.S338S	POLR2A_uc002ghe.3_Silent_p.S338S	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	338					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CCCTCAAGTCCCTGAAGCAGC	0.602000														38			13		2.68362e-12	2.70309e-12	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228470799	228470799	+	Missense_Mutation	SNP	T	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:228470799T>C	uc009xez.1	+	31	8595	c.8551T>C	c.(8551-8553)Tca>Cca	p.S2851P	OBSCN_uc001hsn.3_Missense_Mutation_p.S2851P|OBSCN_uc001hsp.1_Missense_Mutation_p.S550P|OBSCN_uc001hsq.1_Missense_Mutation_p.S107P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2851	Ig-like 28.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGTGAGCTGTCACGGGCGGG	0.652000														13			3		0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734629	42734629	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:42734629G>A	uc003clw.3	-	11	1477	c.1330C>T	c.(1330-1332)Ctt>Ttt	p.L444F	HHATL_uc003clx.3_Missense_Mutation_p.L444F	NM_020707	NP_065758	Q9HCP6	HHATL_HUMAN	Homo sapiens hedgehog acyltransferase-like (HHATL), transcript variant 1, mRNA.	444					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		AGGCTCACAAGGTTGTACATG	0.582000														65			74		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10358382	10358382	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:10358382C>T	uc002gmn.3	-	20	2422	c.2311G>A	c.(2311-2313)Gct>Act	p.A771T	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	771	Actin-binding (By similarity).|Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGCAGGCCAGCTTTGAAGAAA	0.408000														48			10		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78400986	78400986	+	Silent	SNP	T	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:78400986T>C	uc001syp.3	+	7	1841	c.1668T>C	c.(1666-1668)acT>acC	p.T556T	NAV3_uc001syo.3_Silent_p.T556T	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	556						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AATTCAGGACTACCAAGGGGA	0.488000										HNSCC(70;0.22)				39			12		0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87042742	87042742	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:87042742G>A	uc002srw.3	-	5	779	c.720C>T	c.(718-720)atC>atT	p.I240I	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_3'UTR|CD8B_uc002sry.3_Silent_p.I210I|CD8B_uc010fgt.3_Missense_Mutation_p.S198F	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	0					T cell activation|immune response|regulation of defense response to virus by virus|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	T cell receptor complex|early endosome|extracellular region|integral to plasma membrane	MHC class I protein binding|coreceptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						ATGTTTTCAGGATCCATGGGT	0.498000														226			64		0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155340395	155340395	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:155340395G>A	uc009wqq.3	-	11	7081	c.6601C>T	c.(6601-6603)Ctg>Ttg	p.L2201L	ASH1L_uc001fkt.3_Silent_p.L2196L	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2201	SET.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCCAGGTTCAGGCAGTAGTGG	0.403000														56			14		0	0	1	0	0
CCDC137	339230	broad.mit.edu	37	17	79639161	79639161	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:79639161C>T	uc002kbc.4	+	4	672	c.636C>T	c.(634-636)ccC>ccT	p.P212P		NM_199287	NP_954981	Q6PK04	CC137_HUMAN	Homo sapiens coiled-coil domain containing 137 (CCDC137), mRNA.	212										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CTGCCAGGCCCCAGAGGAGCG	0.597000														27			5		0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26825473	26825473	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:26825473G>A	uc001zbb.3	-	6	946	c.843C>T	c.(841-843)ttC>ttT	p.F281F	GABRB3_uc021sgg.1_Silent_p.F154F|GABRB3_uc021sgh.1_Silent_p.F140F|GABRB3_uc001zaz.3_Silent_p.F225F|GABRB3_uc001zba.3_Silent_p.F225F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	225					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			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CACCTGTGGCGAAGACAACAT	0.572000														42			29		0	0	1	0	0
TF	7018	broad.mit.edu	37	3	133478170	133478170	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:133478170C>T	uc003epu.2	+	13	2928	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	TF_uc011blt.2_Silent_p.I273I|TF_uc003epw.2_Intron|TF_uc003epv.2_Silent_p.I400I	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	400	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TCGCCAAGATCATGGTATGTC	0.532000														70			20		0	0	1	0	0
ATP1B1	481	broad.mit.edu	37	1	169094121	169094121	+	Splice_Site	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:169094121G>A	uc001gfr.1	+	3	348	c.227_splice	c.e3-1	p.G76_splice		NM_001677	NP_001668	P05026	AT1B1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, beta 1 polypeptide (ATP1B1), mRNA.	76					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GCCTGGTCTAGGATTAACACA	0.393000														41			8		0	0	1	0	0
PAQR4	124222	broad.mit.edu	37	16	3021713	3021713	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:3021713G>A	uc002csj.4	+	2	920	c.586G>A	c.(586-588)Ggt>Agt	p.G196S	PAQR4_uc002csk.4_Missense_Mutation_p.G157S|PAQR4_uc002csl.4_Missense_Mutation_p.G122S|PAQR4_uc010uwm.2_Missense_Mutation_p.G127S	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	196						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						AGTGGGTCTGGGTTCAGGGGC	0.687000														73			29		0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170135906	170135906	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:170135906C>T	uc002ues.3	-	11	1754	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	LRP2_uc010zdf.1_Missense_Mutation_p.G514E	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	514					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACGGCAATTCCTCTAGGATG	0.403000														40			7		0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454061	84454061	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr13:84454061C>T	uc001vlk.3	-	0	2468	c.1582G>A	c.(1582-1584)Gga>Aga	p.G528R		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	528						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CAGGGGTTTCCGTGGAGGTCT	0.552000														40			19		0	0	1	0	0
CDH10	1008	broad.mit.edu	37	5	24509862	24509862	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr5:24509862G>A	uc003jgr.2	-	6	1575	c.1069C>T	c.(1069-1071)Ccc>Tcc	p.P357S	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TAAAAACGGGGATCTACATGG	0.368000										HNSCC(23;0.051)				28			11		0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136878955	136878955	+	Splice_Site	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:136878955C>T	uc003qhc.3	-	30	4426	c.4065_splice	c.e30-1	p.R1355_splice	MAP3K5_uc011edj.2_Splice_Site_p.R602_splice	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	1355					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|MAP kinase kinase kinase activity|caspase activator activity|magnesium ion binding|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AGCATCCCTCCCCTGTTTAAA	0.383000														31			15		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086450	9086450	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:9086450C>T	uc002mkp.3	-	0	5569	c.5365G>A	c.(5365-5367)Gag>Aag	p.E1789K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1789	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCTGGACTCTGTCCTTGCT	0.468000														29			27		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34383834	34383834	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:34383834C>T	uc001bxm.1	-	4	958	c.781G>A	c.(781-783)Gag>Aag	p.E261K	CSMD2_uc001bxn.1_Missense_Mutation_p.E221K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	221	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TTATGGTACTCCGAGGGGAAG	0.582000														25			6		0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10258027	10258027	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:10258027G>A	uc002gmk.1	-	10	1065	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	325	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CACTGTCATCGATACTGGCTA	0.453000														32			16		0	0	1	0	0
EPHA6	285220	broad.mit.edu	37	3	97311499	97311499	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr3:97311499C>T	uc010how.1	+	11	2473	c.2430C>T	c.(2428-2430)ttC>ttT	p.F810F	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_Silent_p.F176F|EPHA6_uc003drs.4_Silent_p.F202F|EPHA6_uc003drr.4_Silent_p.F202F|EPHA6_uc003drt.3_Silent_p.F202F|EPHA6_uc010hox.1_Intron	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	715	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GCCCCAGCTTCCTGAGGGCAG	0.488000														48			5		0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12463893	12463893	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:12463893G>A	uc002mtr.1	-	3	725	c.114C>T	c.(112-114)ttC>ttT	p.F38F	ZNF442_uc010xmk.1_Intron	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CTTCCTGGGTGAAGTTCACCG	0.463000														42			46		0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8013726	8013726	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:8013726C>T	uc002gka.3	-	7	1577	c.1546G>A	c.(1546-1548)Gcg>Acg	p.A516T	ALOXE3_uc010cnr.3_Missense_Mutation_p.A360T|ALOXE3_uc010vuo.2_Missense_Mutation_p.A492T|ALOXE3_uc010vup.2_Non-coding_Transcript	NM_021628	NP_067641	Q9BYJ1	LOXE3_HUMAN	Homo sapiens arachidonate lipoxygenase 3 (ALOXE3), transcript variant 2, mRNA.	360	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						GGCACCAGCGCCCCCTGGGGG	0.726000											OREG0024154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			14		0	0	1	0	0
RBL2	5934	broad.mit.edu	37	16	53476711	53476711	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:53476711G>A	uc002ehi.4	+	2	631	c.513G>A	c.(511-513)caG>caA	p.Q171Q	RBL2_uc010vgv.1_Silent_p.Q97Q	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	171					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCATTTTTCAGGACATCTTTA	0.408000														34			15		0	0	1	0	0
WT1	7490	broad.mit.edu	37	11	32421568	32421568	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr11:32421568C>T	uc001mtn.2	-	5	1214	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	WT1_uc001mtl.2_Missense_Mutation_p.D130N|WT1_uc001mtm.2_Missense_Mutation_p.D113N|WT1_uc001mto.2_Missense_Mutation_p.D342N|WT1_uc001mtq.2_Missense_Mutation_p.D325N|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	274			M -> R (in DDS).		RNA splicing|adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric S-shaped body morphogenesis|metanephric epithelium development|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q341*(2)|p.M342fs*11(1)|p.Q341fs*13(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTGTGGTTATCGCTCTCGTAC	0.542000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome					17			12		0	0	1	0	0
ZFP82	284406	broad.mit.edu	37	19	36883766	36883766	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:36883766G>A	uc002ody.1	-	4	1711	c.1476C>T	c.(1474-1476)tcC>tcT	p.S492S		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGAATAAGGGATGAATTAA	0.388000														17			11		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756279	94756279	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:94756279G>A	uc001yct.3	-	1	1118	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S	SERPINA10_uc001ycu.4_Missense_Mutation_p.P218S	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	218					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		AACAGTTTGGGAATTTTCCCC	0.393000														45			17		0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221637	59221637	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:59221637C>T	uc010dps.1	+	10	2267	c.2115C>T	c.(2113-2115)atC>atT	p.I705I	CDH20_uc002lif.2_Silent_p.I699I	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	705					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TGCCCGAGATCGAGAGCCTCT	0.677000														53			20		0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877086	24877086	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:24877086G>A	uc001wpf.4	+	2	528	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	70					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AATACCTGAAGGGCCTGTGCA	0.622000														63			42		0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71036309	71036309	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:71036309G>A	uc003tvy.3	+	5	1002	c.1002G>A	c.(1000-1002)agG>agA	p.R334R	WBSCR17_uc003tvz.3_Silent_p.R33R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	334	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGGTCAACAGGAAGTTCTTCG	0.502000														65			35		0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23234655	23234655	+	Missense_Mutation	SNP	T	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:23234655T>G	uc009vqj.1	+	11	2491	c.2346T>G	c.(2344-2346)agT>agG	p.S782R	EPHB2_uc001bge.3_Missense_Mutation_p.S783R|EPHB2_uc001bgf.3_Missense_Mutation_p.S782R|EPHB2_uc010odu.2_Missense_Mutation_p.S724R	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	782	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTACACCAGTGCCCTGGTAA	0.562000														28			13		0	0	1	0	0
DYNC1I1	1780	broad.mit.edu	37	7	95442563	95442563	+	Silent	SNP	A	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr7:95442563A>T	uc003uoc.4	+	3	556	c.279A>T	c.(277-279)ccA>ccT	p.P93P	DYNC1I1_uc003uod.4_Silent_p.P76P|DYNC1I1_uc003uob.3_Silent_p.P76P|DYNC1I1_uc003uoe.4_Silent_p.P93P|DYNC1I1_uc010lfl.3_Silent_p.P82P	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	93	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			ATTTAGTCCCAACCCCTATGT	0.468000														40			36		0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56704366	56704366	+	Missense_Mutation	SNP	C	T	T	rs80228467	by1000genomes	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:56704366C>T	uc010ygh.2	-	0	56	c.56G>A	c.(55-57)gGg>gAg	p.G19E		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	19					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTGTCTGACCCAGGGCTGTT	0.517000														2			7		0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947564	35947564	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr22:35947564C>T	uc003anx.3	+	2	491	c.286C>T	c.(286-288)Ctg>Ttg	p.L96L	RASD2_uc003any.3_Silent_p.L96L	NM_014310	NP_055125	Q96D21	RHES_HUMAN	Homo sapiens RASD family, member 2 (RASD2), mRNA.	96					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						TGTCTTCATCCTGGTGTTCAG	0.577000														60			56		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35987363	35987363	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr6:35987363C>T	uc003olm.3	-	1	233	c.122G>A	c.(121-123)aGg>aAg	p.R41K	SLC26A8_uc003oll.3_Missense_Mutation_p.R41K|SLC26A8_uc003oln.3_Missense_Mutation_p.R41K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	41					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.K40Q(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GGAGGCCTTCCTTTTGTGTTC	0.502000														31			6		0	0	1	0	0
C8A	731	broad.mit.edu	37	1	57351605	57351605	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:57351605C>T	uc001cyo.2	+	6	993	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	287	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGCAGAAATTCATTTTCACAA	0.398000														32			12		0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64211262	64211262	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr18:64211262G>A	uc002lkc.1	-	6	1298	c.1160C>T	c.(1159-1161)tCa>tTa	p.S387L	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.S387L|CDH19_uc002lkd.3_Missense_Mutation_p.S387L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GCCTACAAATGATCCCTGTGG	0.388000														30			5		0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11101984	11101985	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:11101984_11101985CC>TT	uc010dxp.3	+	8	1764_1765	c.1404_1405CC>TT	c.(1402-1407)cgccgg>cgTTgg	p.R469W	SMARCA4_uc010dxo.3_Missense_Mutation_p.R469W|SMARCA4_uc002mqf.4_Missense_Mutation_p.R469W|SMARCA4_uc002mqg.1_Missense_Mutation_p.R469W|SMARCA4_uc010dxq.3_Missense_Mutation_p.R469W|SMARCA4_uc010dxr.3_Missense_Mutation_p.R469W|SMARCA4_uc002mqj.4_Missense_Mutation_p.R469W|SMARCA4_uc010dxs.3_Missense_Mutation_p.R469W|SMARCA4_uc002mqe.2_Missense_Mutation_p.R469W	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	469	HSA.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCGCAAGCGCCGGCAGAAGCA	0.658000			"""F, N, Mis"""		NSCLC									15			4		0	0	1	0	0
SDC3	9672	broad.mit.edu	37	1	31349422	31349423	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:31349422_31349423GG>AA	uc001bse.2	-	2	893_894	c.846_847CC>TT	c.(844-849)gcccct>gcTTct	p.P283S	SDC3_uc001bsd.2_Missense_Mutation_p.P225S	NM_014654	NP_055469	O75056	SDC3_HUMAN	Homo sapiens syndecan 3 (SDC3), mRNA.	283	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGGTCCAGGGGCAGTGGTCC	0.678000														25			7		0	0	1	0	0
RUNDC1	146923	broad.mit.edu	37	17	41141503	41141503	+	Missense_Mutation	SNP	A	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:41141503A>C	uc002ici.1	+	2	815	c.803A>C	c.(802-804)gAg>gCg	p.E268A		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	268										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CAGTTGGTTGAGCAACTGAAA	0.493000														28			15		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76435239	76435239	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:76435239C>T	uc010dhp.2	-	72	11863	c.11738G>A	c.(11737-11739)gGa>gAa	p.G3913E	DNAH17_uc002jvq.3_Missense_Mutation_p.G198E|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACCTCTTGTCCCTGCCCCAG	0.493000														21			8		0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	154027279	154027279	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:154027279C>T	uc001fdw.3	-	23	3342	c.3270G>A	c.(3268-3270)gaG>gaA	p.E1090E	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Silent_p.E1090E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1090						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GTGTCATTTTCTCTGGAAGAA	0.363000														34			4		0	0	1	0	0
EFCAB4B	84766	broad.mit.edu	37	12	3757713	3757713	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:3757713G>A	uc010sen.1	-	10	1685	c.1113C>T	c.(1111-1113)ttC>ttT	p.F371F	EFCAB4B_uc001qmj.2_Silent_p.F371F|EFCAB4B_uc001qmi.1_Non-coding_Transcript	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	371					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CGCACCTTAGGAAATCCAGCT	0.607000														46			15		0	0	1	0	0
GUCY2D	3000	broad.mit.edu	37	17	7915821	7915821	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:7915821G>A	uc002gjt.2	+	9	2084	c.2010G>A	c.(2008-2010)cgG>cgA	p.R670R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	670	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				TGAAGTCACGGAACTGCATAG	0.582000														84			16		0	0	1	0	0
DKFZp686O16217	0	broad.mit.edu	37	14	106054159	106054159	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr14:106054159G>A	uc001yrt.3	-	2	409	c.378C>T	c.(376-378)gcC>gcT	p.A126A	abParts_uc021ser.1_Intron|DKFZp686O16217_uc001yrs.3_Non-coding_Transcript					SubName: Full=Putative uncharacterized protein DKFZp686O16217; Flags: Fragment;																		GGTCCTCGAGGGCCGGTCGGT	0.647000														8			8		0	0	1	0	0
ASAH2	56624	broad.mit.edu	37	10	52008332	52008332	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:52008332C>T	uc001jjd.3	-	0	39	c.39G>A	c.(37-39)ctG>ctA	p.L13L	ASAH2_uc009xos.3_Silent_p.L13L	NM_019893	NP_063946	Q9NR71	ASAH2_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2 (ASAH2), transcript variant 1, mRNA.	13					apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GGAGGAAAATCAGGAATGTCT	0.433000														25			13		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110530420	110530420	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr8:110530420C>T	uc003yne.3	+	72	11818	c.11714C>T	c.(11713-11715)tCc>tTc	p.S3905F		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3905					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.L3904fs*38(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AACCTGGATTCCACTGTCCTT	0.363000										HNSCC(38;0.096)				18			4		0	0	1	0	0
ADAMTS18	170692	broad.mit.edu	37	16	77465388	77465388	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:77465388C>T	uc002ffc.4	-	2	718	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	100					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TGCTGAAAATCGGTAGTGCAG	0.473000														181			35		0	0	1	0	0
ACE	1636	broad.mit.edu	37	17	61571326	61571326	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:61571326C>T	uc002jau.2	+	20	3214	c.3180C>T	c.(3178-3180)atC>atT	p.I1060I	ACE_uc010wpj.2_Silent_p.I486I|ACE_uc010ddv.2_Silent_p.I287I|ACE_uc002jav.2_Silent_p.I486I|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.I306I	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1060	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTGACAAGATCGCCTTTATCC	0.547000														50			15		0	0	1	0	0
INSM1	3642	broad.mit.edu	37	20	20350123	20350123	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr20:20350123C>T	uc002wrx.3	+	0	1359	c.1212C>T	c.(1210-1212)gcC>gcT	p.A404A		NM_002196	NP_002187	Q01101	INSM1_HUMAN	Homo sapiens insulinoma-associated 1 (INSM1), mRNA.	404					endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		CGCCCCCGGCCGAGGACCTAC	0.751000														15			7		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027774	37027774	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:37027774C>T	uc004ddl.2	+	0	1343	c.1291C>T	c.(1291-1293)Ccc>Tcc	p.P431S		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	431										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTGGAGCCTCCCAAGACTCG	0.607000														35			35		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153070079	153070079	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:153070079G>A	uc004fja.1	-	7	1307	c.1057C>T	c.(1057-1059)Ccg>Tcg	p.P353S	PDZD4_uc004fiy.1_Missense_Mutation_p.P272S|PDZD4_uc004fiz.1_Missense_Mutation_p.P347S|PDZD4_uc004fix.2_Missense_Mutation_p.P251S|PDZD4_uc011mze.1_Missense_Mutation_p.P238S|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	347						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGGCCCGGGACGTCGCCC	0.662000														17			25		0	0	1	0	0
UNC5B	219699	broad.mit.edu	37	10	73051457	73051457	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:73051457C>T	uc001jro.3	+	9	2014	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	UNC5B_uc001jrp.3_Silent_p.F510F	NM_170744	NP_734465	Q8IZJ1	UNC5B_HUMAN	Homo sapiens unc-5 homolog B (C. elegans) (UNC5B), transcript variant 1, mRNA.	521					apoptosis|axon guidance|regulation of apoptosis	integral to membrane		p.H520N(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						ACACCCACTTCCTGCACCTGC	0.697000														44			26		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55844493	55844493	+	Silent	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:55844493G>A	uc002eim.3	-	10	1359	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	CES1_uc002eil.3_Silent_p.F418F|CES1_uc002ein.3_Silent_p.F416F	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	417				F -> I (in Ref. 19; AAA83932).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TCAAGTCCAGGAACAGGTCTT	0.473000														87			19		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179593081	179593081	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr2:179593081C>T	uc021vsy.1	-	63	15963	c.15738G>A	c.(15736-15738)atG>atA	p.M5246I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.M1907I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6173	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACTTTATCCATTTTGGTTA	0.358000														13			4		0	0	1	0	0
RCC1	1104	broad.mit.edu	37	1	28861871	28861871	+	Missense_Mutation	SNP	C	G	G			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:28861871C>G	uc001bqb.2	+	8	1039	c.640C>G	c.(640-642)Cgt>Ggt	p.R214G	RCC1_uc001bqa.2_Missense_Mutation_p.R214G|RCC1_uc001bqc.2_Missense_Mutation_p.R214G|RCC1_uc001bqe.2_Missense_Mutation_p.R231G|RCC1_uc001bqf.2_Missense_Mutation_p.R245G|RCC1_uc001bqg.2_Missense_Mutation_p.R214G	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	214					G1/S transition of mitotic cell cycle|cell division|chromosome segregation|mitosis|mitotic spindle organization|regulation of S phase of mitotic cell cycle|regulation of mitosis|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	Ran guanyl-nucleotide exchange factor activity|histone binding|nucleosomal DNA binding			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		ATTTGCCAACCGTGGTGGCCG	0.597000														38			11		0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2376171	2376171	+	Missense_Mutation	SNP	G	C	C			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr16:2376171G>C	uc002cpy.1	-	4	871	c.159C>G	c.(157-159)aaC>aaG	p.N53K	ABCA3_uc010bsk.1_Missense_Mutation_p.N53K|ABCA3_uc010bsl.1_Missense_Mutation_p.N53K|ABCA3_uc002cpz.1_Missense_Mutation_p.N53K	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	53					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)				AGATGGTGGCGTTGGGCACAT	0.572000														56			28		0	0	1	0	0
TSPEAR	54084	broad.mit.edu	37	21	45945695	45945695	+	Missense_Mutation	SNP	G	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:45945695G>A	uc002zfe.1	-	7	1243	c.1177C>T	c.(1177-1179)Cca>Tca	p.P393S	TSPEAR_uc010gpv.1_Missense_Mutation_p.P325S	NM_144991	NP_659428	Q8WU66	TSEAR_HUMAN	Homo sapiens thrombospondin-type laminin G domain and EAR repeats (TSPEAR), mRNA.	393					cell adhesion	extracellular region	structural molecule activity			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						TTCTCATCTGGTTCAAAATTA	0.512000														117			47		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004005	74004005	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr17:74004005C>T	uc010wss.1	-	21	5575	c.5347G>A	c.(5347-5349)Gag>Aag	p.E1783K	EVPL_uc002jqi.2_Missense_Mutation_p.E1761K|EVPL_uc010wst.1_Missense_Mutation_p.E1231K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1761	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGTACTCCTCCTTAGAGATG	0.637000														49			13		0	0	1	0	0
MX1	4599	broad.mit.edu	37	21	42824730	42824730	+	Silent	SNP	C	T	T	rs117998041	byFrequency	TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr21:42824730C>T	uc010goq.3	+	13	2038	c.1692C>T	c.(1690-1692)ttC>ttT	p.F564F	MX1_uc002yzh.3_Silent_p.F564F|MX1_uc002yzi.3_Silent_p.F564F	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	564					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				TTGGGGCTTTCCAGTCCAGCT	0.522000														142			38		0	0	1	0	0
PPHLN1	51535	broad.mit.edu	37	12	42778790	42778790	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:42778790C>T	uc001rng.1	+	5	665	c.560C>T	c.(559-561)cCt>cTt	p.P187L	PPHLN1_uc001rna.3_Missense_Mutation_p.P139L|PPHLN1_uc001rnb.3_Missense_Mutation_p.P194L|PPHLN1_uc001rnc.3_Missense_Mutation_p.P187L|PPHLN1_uc001rnd.3_Missense_Mutation_p.P139L|PPHLN1_uc001rnf.3_Intron|PPHLN1_uc010skq.2_Intron|PPHLN1_uc010skr.1_Missense_Mutation_p.P132L|PPHLN1_uc010sks.1_Intron|PPHLN1_uc010skt.1_Intron|PPHLN1_uc001rni.1_Missense_Mutation_p.P132L|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Intron|PPHLN1_uc001rnj.3_5'Flank	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	187	Ser-rich.				keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GAAGGAAATCCTGAAAGAGGT	0.493000														29			18		0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166973532	166973532	+	Silent	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr1:166973532C>T	uc001gdy.1	+	5	710	c.639C>T	c.(637-639)atC>atT	p.I213I	MAEL_uc021peh.1_Silent_p.I157I|MAEL_uc001gdz.1_Silent_p.I182I|MAEL_uc009wvf.1_Non-coding_Transcript	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	213					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GGCCACCTATCTACTGCAAGG	0.343000														33			15		0	0	1	0	0
GPR158	57512	broad.mit.edu	37	10	25861619	25861619	+	Missense_Mutation	SNP	C	T	T			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr10:25861619C>T	uc001isj.3	+	6	1616	c.1556C>T	c.(1555-1557)cCa>cTa	p.P519L		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	519						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAACGAATTCCATATATGACT	0.413000														61			34		0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36168575	36168584	+	Frame_Shift_Del	DEL	ATTATTTCAA	-	-			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr4:36168575_36168584delATTATTTCAA	uc003gsq.2	-	9	2281_2290	c.1943_1952delTTGAAATAAT	c.(1942-1953)tttgaaataatcfs	p.F648fs	ARAP2_uc003gsr.1_Frame_Shift_Del_p.F648fs	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	648	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTAGGGAGTGATTATTTCAAAAGATTGTTT	0.362													---	20	---	---	9	---					
RLN2	6019	broad.mit.edu	37	9	5304560	5304561	+	Frame_Shift_Ins	INS	-	A	A			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr9:5304560_5304561insA	uc003zja.1	-	0	20_21	c.20_21insT	c.(19-21)ttcfs	p.F7fs	RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs	NM_134441	NP_604390	P04090	REL2_HUMAN	Homo sapiens relaxin 2 (RLN2), transcript variant 1, mRNA.	7					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		CTAGCAGGTGGAAAAAAAACAG	0.535													---	1287	---	---	23	---					
ASCL1	429	broad.mit.edu	37	12	103352172	103352174	+	In_Frame_Del	DEL	GCA	-	-	rs72405287		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr12:103352172_103352174delGCA	uc001tjr.4	+	0	721_723	c.150_152delGCA	c.(148-153)gcgcag>gcg	p.Q62del	ASCL1_uc021rcu.1_In_Frame_Del_p.Q62del	NM_004316	NP_004307	P50553	ASCL1_HUMAN	Homo sapiens achaete-scute complex homolog 1 (Drosophila) (ASCL1), mRNA.	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	Notch signaling pathway|cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	E-box binding|bHLH transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						cgcagagcgcgcagcagcagcag	0.754													---	4	---	---	2	---					
POLG	5428	broad.mit.edu	37	15	89876828	89876830	+	In_Frame_Del	DEL	TGC	-	-			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr15:89876828_89876830delTGC	uc002bns.4	-	1	438_440	c.156_158delGCA	c.(154-159)cagcaa>caa	p.52_53QQ>Q	POLG_uc002bnr.4_In_Frame_Del_p.52_53QQ>Q|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	52	Poly-Gln.				DNA-dependent DNA replication|base-excision repair, gap-filling|cell death	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			aggctgctgttgctgctgctgct	0.690								DNA polymerases (catalytic subunits)					---	53	---	---	9	---					
APOC4	346	broad.mit.edu	37	19	45448708	45448708	+	RNA	DEL	A	-	-			TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chr19:45448708delA	uc002pah.3	+	2		c.570delA			APOC4_uc021uvn.1_5'Flank	NM_001646		P55056	APOC4_HUMAN	Homo sapiens apolipoprotein C-IV (APOC4), mRNA.						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		aaacaaaaagaaaaaAAAAAG	0.498													---	6	---	---	3	---					
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Translation_Start_Site	DEL	TCCTCGAGGCAGCC	-	-	rs78182391		TCGA-ER-A19M-06A-61D-A23B-08	TCGA-ER-A19M-10A-01D-A23B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16af1d54-572c-4a37-bd5b-4e807c9af55b	5ecd4ce6-f1f2-4504-ae4c-9b041a4d8dee	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	uc010njt.3	-	0						NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.							cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)			---	5	---	---	6	---