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
DNAH7	56171	broad.mit.edu	37	2	196720612	196720612	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:196720612C>T	uc002utj.4	-	44	8619	c.8518G>A	c.(8518-8520)Gaa>Aaa	p.E2840K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2840	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCTGAACTTCCTTAAGGGCT	0.433000														157			62		0	0	1	0	0
FNDC3B	64778	broad.mit.edu	37	3	171969266	171969266	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:171969266C>T	uc003fhy.3	+	5	897	c.725C>T	c.(724-726)cCc>cTc	p.P242L	FNDC3B_uc003fhz.4_Missense_Mutation_p.P242L|FNDC3B_uc003fia.3_Missense_Mutation_p.P173L	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	242	Poly-Gly.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GGTAGTGGTCCCGGAATTAAG	0.478000														28			8		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480540	32480541	+	Missense_Mutation	DNP	CC	AT	AT	rs148824104		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:32480540_32480541CC>AT	uc003amc.3	+	7	1029_1030	c.779_780CC>AT	c.(778-780)gcc>gAT	p.A260D	SLC5A1_uc011alz.2_Missense_Mutation_p.A133D	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	260					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						ACTCCAAGGGCCGACTCCTTCC	0.520000														44			7		0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278705	130278705	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:130278705G>A	uc001qgg.4	-	6	2239	c.1881C>T	c.(1879-1881)tgC>tgT	p.C627C	ADAMTS8_uc001qgf.3_Silent_p.C108C	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	627	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCGGGCTCGGCAGAACAACT	0.587000														73			39		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37055986	37055986	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:37055986C>T	uc003cgl.3	+	8	939	c.741C>T	c.(739-741)tcC>tcT	p.S247S	MLH1_uc011aye.2_Silent_p.S6S|MLH1_uc011ayb.2_Silent_p.S6S|MLH1_uc010hge.3_Silent_p.S247S|MLH1_uc011ayc.2_Silent_p.S149S|MLH1_uc011ayd.2_Silent_p.S6S|MLH1_uc003cgo.3_Silent_p.S6S|MLH1_uc003cgn.4_Silent_p.S6S|MLH1_uc010hgg.1_5'UTR|MLH1_uc010hgh.1_Intron|MLH1_uc010hgi.1_5'UTR|MLH1_uc010hgj.1_Intron|MLH1_uc010hgk.3_5'UTR|MLH1_uc010hgl.1_5'UTR	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	247			Missing (in HNPCC2).|S -> P (in HNPCC2).		mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.S247fs*3(2)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GTTACATATCCAATGCAAACT	0.368000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					24			11		0	0	1	0	0
DMWD	1762	broad.mit.edu	37	19	46289540	46289540	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:46289540G>A	uc002pdj.1	-	2	1260	c.1214C>T	c.(1213-1215)cCc>cTc	p.P405L	DMWD_uc021uwc.1_Missense_Mutation_p.P59S|DMWD_uc010eko.1_Missense_Mutation_p.P90L	NM_004943	NP_004934	Q09019	DMWD_HUMAN	Homo sapiens dystrophia myotonica, WD repeat containing (DMWD), mRNA.	405					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CGCAGCCTCGGGCTCCTCCTC	0.697000														37			23		0	0	1	0	0
ETFA	2108	broad.mit.edu	37	15	76588000	76588000	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:76588000T>C	uc002bbt.2	-	1	199	c.118A>G	c.(118-120)Acc>Gcc	p.T40A	ETFA_uc010bkq.1_Intron	NM_000126	NP_000117	P13804	ETFA_HUMAN	Homo sapiens electron-transfer-flavoprotein, alpha polypeptide (ETFA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	40					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						GCAGTAATGGTATTTAAAGTA	0.423000														53			6		0	0	1	0	0
ALOX15B	247	broad.mit.edu	37	17	7950363	7950363	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:7950363G>A	uc002gju.3	+	9	1542	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	ALOX15B_uc002gjv.3_Missense_Mutation_p.D447N|ALOX15B_uc002gjw.3_Missense_Mutation_p.D447N|ALOX15B_uc010vun.2_Missense_Mutation_p.D476N|ALOX15B_uc010cnp.3_Missense_Mutation_p.D282N	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	476	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CTACCGTGATGATGGGATGCA	0.582000														32			10		0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959407	8959407	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:8959407C>T	uc001mhd.1	-	1	362	c.302G>A	c.(301-303)cGg>cAg	p.R101Q	ASCL3_uc021qdj.1_Missense_Mutation_p.R101Q	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	Homo sapiens achaete-scute complex homolog 3 (Drosophila) (ASCL3), mRNA.	100					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CTGCCTTTCCCGCTCATTCCT	0.542000														43			10		0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51291441	51291441	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:51291441C>T	uc001zyx.2	+	18	3184	c.3077C>T	c.(3076-3078)tCa>tTa	p.S1026L	AP4E1_uc021skz.1_Missense_Mutation_p.S951L|AP4E1_uc010bex.1_Intron	NM_007347	NP_031373	Q9UPM8	AP4E1_HUMAN	Homo sapiens adaptor-related protein complex 4, epsilon 1 subunit (AP4E1), transcript variant 1, mRNA.	1026					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GTAAACTTATCACTATTAGAT	0.313000														8			8		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	68981310	68981310	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:68981310G>A	uc003xxv.1	+	11	1409	c.1382G>A	c.(1381-1383)aGa>aAa	p.R461K	PREX2_uc003xxu.1_Missense_Mutation_p.R461K|PREX2_uc011lez.1_Missense_Mutation_p.R396K	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	461	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R461T(3)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ATGTTATATAGATTTCGCTAT	0.348000														23			13		0	0	1	0	0
LRRC61	65999	broad.mit.edu	37	7	150034533	150034533	+	Missense_Mutation	SNP	G	A	A	rs61744057	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:150034533G>A	uc003wgz.4	+	0	583	c.583G>A	c.(583-585)Gag>Aag	p.E195K	LRRC61_uc003wgv.3_Missense_Mutation_p.E195K|LRRC61_uc003wgx.3_Missense_Mutation_p.E195K|LRRC61_uc003wgw.3_Missense_Mutation_p.E195K	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	195										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CAGAGCCACCGAGGCCCAGCC	0.667000														25			15		0	0	1	0	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768817	31768817	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:31768817C>T	uc002yoa.3	+	0	426	c.413C>T	c.(412-414)cCt>cTt	p.P138L		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	138						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTGGCTTCCCTTCCCTGGGC	0.582000														27			18		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70977848	70977848	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:70977848G>A	uc002ezr.3	-	41	6684	c.6533C>T	c.(6532-6534)tCc>tTc	p.S2178F		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2179										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)				AGGGCTGgaggaaatctgttg	0.567000														13			3		0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118628677	118628677	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:118628677G>A	uc001ehk.2	-	12	1698	c.1630C>T	c.(1630-1632)Cca>Tca	p.P544S		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	544						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGAACTGGATCAAAATTC	0.418000														19			23		0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57430004	57430004	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:57430004C>T	uc002xzw.3	+	0	1969	c.1684C>T	c.(1684-1686)Cgc>Tgc	p.R562C	GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript	NM_080425	NP_001070958	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA.	0					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCGGCCGCCGCGTGTACTA	0.692000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				14			4		0	0	1	0	0
LPGAT1	9926	broad.mit.edu	37	1	212002577	212002577	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:212002577C>T	uc001hiu.3	-	1	875	c.62G>A	c.(61-63)aGg>aAg	p.R21K	LPGAT1_uc001hiv.3_Missense_Mutation_p.R21K	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA.	21					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		GAAGGCAAACCTCATCAGTGC	0.498000														99			49		0	0	1	0	0
PLS3	5358	broad.mit.edu	37	X	114880436	114880436	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:114880436T>A	uc004eqe.3	+	11	1441	c.1307T>A	c.(1306-1308)aTt>aAt	p.I436N	PLS3_uc010nqg.3_Missense_Mutation_p.I218N|PLS3_uc004eqd.3_Missense_Mutation_p.I436N|PLS3_uc011mtf.2_Missense_Mutation_p.I423N|PLS3_uc011mth.2_Missense_Mutation_p.I391N|PLS3_uc011mtg.2_Missense_Mutation_p.I409N|PLS3_uc011mti.2_Missense_Mutation_p.I112N|PLS3_uc011mtj.2_Missense_Mutation_p.I30N|PLS3_uc011mtl.2_Non-coding_Transcript	NM_001136025	NP_005023	P13797	PLST_HUMAN	Homo sapiens plastin 3 (PLS3), transcript variant 2, mRNA.	436	Actin-binding 2.|CH 3.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						TATGAACGAATTAAAGTTCCT	0.358000														8			4		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234343481	234343481	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:234343481C>T	uc002vui.1	+	4	532	c.520C>T	c.(520-522)Ccg>Tcg	p.P174S	DGKD_uc002vuj.1_Missense_Mutation_p.P130S|DGKD_uc010fyh.1_Missense_Mutation_p.P41S|DGKD_uc002vuk.1_Missense_Mutation_p.P41S	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	174					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CCACGCGAGGCCGACCTACTG	0.562000														72			57		0	0	1	0	0
CD244	51744	broad.mit.edu	37	1	160811413	160811413	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:160811413C>T	uc009wtq.3	-	1	565	c.340G>A	c.(340-342)Gga>Aga	p.G114R	CD244_uc001fxa.3_Missense_Mutation_p.G114R|CD244_uc009wtr.3_Missense_Mutation_p.G114R|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	114	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAACTTTTCCAGATATACTG	0.453000														26			16		0	0	1	0	0
C3orf20	84077	broad.mit.edu	37	3	14745865	14745865	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:14745865G>A	uc003byy.3	+	6	1352	c.900G>A	c.(898-900)tgG>tgA	p.W300*	C3orf20_uc003byz.3_Nonsense_Mutation_p.W178*|C3orf20_uc003bza.3_Nonsense_Mutation_p.W178*|C3orf20_uc003byx.2_Intron	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	300						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GGGCCACATGGAAAGGGAGGA	0.502000														38			20		0	0	1	0	0
C22orf42	150297	broad.mit.edu	37	22	32550266	32550266	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:32550266C>T	uc003amd.3	-	1	313	c.272G>A	c.(271-273)tGg>tAg	p.W91*		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	91										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						GTGCCGTCTCCATATTATTTT	0.373000														38			26		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17833826	17833826	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:17833826C>T	uc003stv.3	-	25	2930	c.2717G>A	c.(2716-2718)aGa>aAa	p.R906K	SNX13_uc010kuc.3_Missense_Mutation_p.R703K|SNX13_uc003stw.1_3'UTR|SNX13_uc010kub.3_Missense_Mutation_p.R312K	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	917					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATAAACCATTCTCCTATTTAA	0.373000														16			6		0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127545	150127545	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:150127545C>T	uc003exv.3	+	0	758	c.408C>T	c.(406-408)ggC>ggT	p.G136G	TSC22D2_uc003exw.3_Non-coding_Transcript|TSC22D2_uc003exx.3_Silent_p.G136G	NM_014779	NP_055594	O75157	T22D2_HUMAN	Homo sapiens TSC22 domain family, member 2 (TSC22D2), mRNA.	136							sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CACCCGGCGGCCCCCAGCTCG	0.711000														34			20		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11761070	11761070	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:11761070C>T	uc002rbk.1	+	22	4384	c.4084C>T	c.(4084-4086)Ctg>Ttg	p.L1362L	GREB1_uc002rbp.1_Silent_p.L360L	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	1362						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCTCAGTGTCCTGTCCAGGAT	0.532000														79			30		0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43190535	43190535	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:43190535G>A	uc003ouk.3	+	37	7126	c.7051G>A	c.(7051-7053)Gtg>Atg	p.V2351M	CUL9_uc003oul.3_Missense_Mutation_p.V2323M|CUL9_uc010jyk.3_Missense_Mutation_p.V1503M|CUL9_uc003oun.3_Missense_Mutation_p.V146M	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2351					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTACGCCTGCGTGTACAGCTT	0.612000														114			17		0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32850603	32850603	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:32850603C>T	uc001utx.3	+	56	8785	c.8289C>T	c.(8287-8289)ctC>ctT	p.L2763L	FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Silent_p.L288L|FRY_uc010tdx.2_Silent_p.L133L	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	2763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GTCTTTAGCTCCTTTCATGTG	0.383000														42			19		0	0	1	0	0
ZNF512B	57473	broad.mit.edu	37	20	62593692	62593692	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:62593692G>A	uc002yhl.1	-	13	2253	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCAGCTGGGGGTTCAGCGTGG	0.607000														215			30		0	0	1	0	0
SLC22A9	114571	broad.mit.edu	37	11	63174006	63174006	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:63174006C>T	uc001nww.3	+	6	1379	c.1111C>T	c.(1111-1113)Cat>Tat	p.H371Y	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	371					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTAATCTCCATGTCCAGCA	0.418000														63			21		0	0	1	0	0
KCNA4	3739	broad.mit.edu	37	11	30033920	30033920	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:30033920G>A	uc021qfi.1	-	0	306	c.306C>T	c.(304-306)ttC>ttT	p.F102F	KCNA4_uc001msk.3_Silent_p.F102F	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	102						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGCAATGAGGGAAGCTGCTCT	0.602000														28			12		0	0	1	0	0
C12orf54	121273	broad.mit.edu	37	12	48884600	48884600	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:48884600G>A	uc001rrr.3	+	5	305	c.174G>A	c.(172-174)caG>caA	p.Q58Q	C12orf54_uc009zky.1_Non-coding_Transcript	NM_152319	NP_689532	Q6X4T0	CL054_HUMAN	Homo sapiens chromosome 12 open reading frame 54 (C12orf54), mRNA.	58										endometrium(1)|large_intestine(4)	5						TTCAGCTGCAGGAAGATGCTC	0.453000														129			15		0	0	1	0	0
AGXT2L1	64850	broad.mit.edu	37	4	109670468	109670468	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:109670468G>A	uc003hzc.3	-	7	1034	c.853C>T	c.(853-855)Ccg>Tcg	p.P285S	AGXT2L1_uc010imc.3_Missense_Mutation_p.P279S|AGXT2L1_uc011cfm.2_Missense_Mutation_p.P245S|AGXT2L1_uc011cfn.2_Missense_Mutation_p.P212S|AGXT2L1_uc011cfo.2_Missense_Mutation_p.P227S	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	285					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CATGCCACCGGGTGGCCGTTG	0.458000														58			23		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9024197	9024197	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9024197G>A	uc002mkp.3	-	17	37279	c.37075C>T	c.(37075-37077)Cct>Tct	p.P12359S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12361					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						GAGGTCCCAGGAGCTGAGGAA	0.483000														16			5		0	0	1	0	0
KIAA1274	27143	broad.mit.edu	37	10	72292493	72292493	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:72292493G>A	uc001jrd.4	+	5	1031	c.750G>A	c.(748-750)acG>acA	p.T250T		NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	250								p.V249V(1)|p.T250M(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TGCATGTGACGGAGGAGGTGT	0.622000														72			37		0	0	1	0	0
PLA2R1	22925	broad.mit.edu	37	2	160843735	160843735	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:160843735C>T	uc002ube.2	-	11	2181	c.1969G>A	c.(1969-1971)Gag>Aag	p.E657K	PLA2R1_uc010zcp.2_Missense_Mutation_p.E657K|PLA2R1_uc002ubf.3_Missense_Mutation_p.E657K	NM_007366	NP_031392	Q13018	PLA2R_HUMAN	Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA.	657					endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGCCATCTCTCTTCATACTCT	0.493000														42			20		0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50327351	50327352	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:50327351_50327352CC>TT	uc002egd.1	+	4	1042_1043	c.774_775CC>TT	c.(772-777)gaccgt>gaTTgt	p.R259C	ADCY7_uc002egb.1_Missense_Mutation_p.R259C|ADCY7_uc002egc.2_Missense_Mutation_p.R259C	NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	259					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	AGCATGGTGACCGTCGCTGCAT	0.584000														58			5		0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97333856	97333856	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:97333856T>A	uc004auv.3	-	3	522	c.455A>T	c.(454-456)gAt>gTt	p.D152V		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	152					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CTGCAGGGCATCCTTTTCAGA	0.557000														15			19		0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943684	144943684	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:144943684G>A	uc003zaa.1	-	0	3751	c.3738C>T	c.(3736-3738)ggC>ggT	p.G1246G		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1246						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGGCCACGCAGCCTGTGCCCC	0.721000														7			7		0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	167012377	167012377	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:167012377G>A	uc003irh.2	+	18	3187	c.2540G>A	c.(2539-2541)cGa>cAa	p.R847Q	TLL1_uc011cjn.2_Missense_Mutation_p.R870Q|TLL1_uc011cjo.2_Missense_Mutation_p.R671Q	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	847	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTCTTGGACGACTGTGTGGC	0.398000														39			15		0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022616	7022616	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:7022616G>A	uc009yfh.1	-	2	597	c.298C>T	c.(298-300)Cgt>Tgt	p.R100C	ZNF214_uc001mfa.2_Missense_Mutation_p.R100C|ZNF214_uc010ray.1_Missense_Mutation_p.R100C	NM_013249	NP_037381	Q9UL59	ZN214_HUMAN	Homo sapiens zinc finger protein 214 (ZNF214), mRNA.	100					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		CACTGGGAACGATCTTGCTGT	0.453000														254			134		0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128983534	128983534	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:128983534C>T	uc003kvb.1	+	11	1931	c.1931C>T	c.(1930-1932)cCt>cTt	p.P644L	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	644	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTGTGGAGTCCTTGTAGCCGA	0.522000														100			38		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325832	79325832	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:79325832C>T	uc010mpk.3	-	7	1482	c.1358G>A	c.(1357-1359)gGa>gAa	p.G453E	PRUNE2_uc022bih.1_Missense_Mutation_p.G275E	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	453					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGCACCTTCTCCCACGGGGCT	0.592000														25			16		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138517973	138517973	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:138517973C>T	uc010nbd.1	-	3	453	c.199G>A	c.(199-201)Gaa>Aaa	p.E67K		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	67					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAATGTTTTTCCAGGACCCGC	0.488000														46			33		0	0	1	0	0
HELLS	3070	broad.mit.edu	37	10	96350468	96350468	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:96350468C>T	uc009xuo.3	+	15	1945	c.1840C>T	c.(1840-1842)Cgt>Tgt	p.R614C	HELLS_uc001kjs.3_Missense_Mutation_p.R552C|HELLS_uc001kjt.3_Missense_Mutation_p.R568C|HELLS_uc009xul.3_Missense_Mutation_p.R470C|HELLS_uc009xum.3_Missense_Mutation_p.R438C|HELLS_uc009xun.3_Missense_Mutation_p.R444C|HELLS_uc001kju.3_Missense_Mutation_p.R207C|HELLS_uc009xup.3_Non-coding_Transcript|HELLS_uc009xuq.3_Missense_Mutation_p.R430C|HELLS_uc009xur.3_Non-coding_Transcript	NM_018063	NP_060533	Q9NRZ9	HELLS_HUMAN	Homo sapiens helicase, lymphoid-specific (HELLS), mRNA.	568	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GATGCTACTTCGTAAATGTTG	0.313000														34			28		0	0	1	0	0
SRC	6714	broad.mit.edu	37	20	36012616	36012616	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:36012616C>T	uc002xgx.3	+	3	509	c.60C>T	c.(58-60)ccC>ccT	p.P20P	SRC_uc002xgy.3_Silent_p.P20P	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	20					Ras protein signal transduction|T cell costimulation|axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly	caveola|cytosol|mitochondrial inner membrane	ATP binding|SH2 domain binding|SH3/SH2 adaptor activity|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	GCCTGGAGCCCGCCGAGAACG	0.716000														36			21		0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67630398	67630398	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:67630398C>T	uc002sdz.1	+	4	723	c.584C>T	c.(583-585)gCt>gTt	p.A195V		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	195						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATGAAACTGGCTAAACAATTT	0.274000														17			14		0	0	1	0	0
RXFP1	59350	broad.mit.edu	37	4	159573197	159573197	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:159573197C>T	uc003ipz.3	+	17	2527	c.2264C>T	c.(2263-2265)tCc>tTc	p.S755F	RXFP1_uc010iqk.3_Missense_Mutation_p.S623F|RXFP1_uc011cja.2_Missense_Mutation_p.S650F|RXFP1_uc010iqo.3_Missense_Mutation_p.S707F|RXFP1_uc011cjb.2_Missense_Mutation_p.S653F|RXFP1_uc011cjc.2_Missense_Mutation_p.S674F|RXFP1_uc011cjd.2_Missense_Mutation_p.S674F|RXFP1_uc010iql.3_Missense_Mutation_p.S599F|RXFP1_uc011cje.2_Missense_Mutation_p.S782F|RXFP1_uc010iqm.3_Missense_Mutation_p.S722F|RXFP1_uc011cjf.2_Missense_Mutation_p.S624F|RXFP1_uc010iqn.3_Missense_Mutation_p.S700F	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	755						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGACTCAATTCCTATTCATGA	0.418000														53			13		0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34927067	34927067	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:34927067C>T	uc002yse.1	+	2	5579	c.5530C>T	c.(5530-5532)Cgt>Tgt	p.R1844C	SON_uc002ysb.1_Missense_Mutation_p.R1844C|SON_uc002ysc.3_Missense_Mutation_p.R1844C|SON_uc002ysd.3_Missense_Mutation_p.R835C|SON_uc002ysf.1_Intron|SON_uc002ysg.3_Missense_Mutation_p.R835C	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1844					RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CAGTGAATCTCGTTCTAGGGC	0.458000														41			20		0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22881354	22881354	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:22881354G>A	uc002yld.2	+	15	2509	c.2260G>A	c.(2260-2262)Gaa>Aaa	p.E754K	NCAM2_uc011acb.2_Missense_Mutation_p.E612K	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	754					neuron cell-cell adhesion	integral to membrane|plasma membrane		p.E754K(2)		breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		TAAAGAACTCGAAGAAGGAAA	0.463000														51			19		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234359631	234359631	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:234359631C>T	uc002vui.1	+	16	2114	c.2102C>T	c.(2101-2103)tCc>tTc	p.S701F	DGKD_uc002vuj.1_Missense_Mutation_p.S657F|DGKD_uc010fyh.1_Missense_Mutation_p.S568F|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	701					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGTTCTGCTTCCCTTCCGCCC	0.592000														101			67		0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70918050	70918050	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:70918050C>T	uc021vjc.1	-	7	982	c.717G>A	c.(715-717)atG>atA	p.M239I	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.M239I|ADD2_uc002sgz.3_Missense_Mutation_p.M239I|ADD2_uc010fdt.2_Missense_Mutation_p.M239I|ADD2_uc002shc.2_Missense_Mutation_p.M239I|ADD2_uc010fdu.2_Missense_Mutation_p.M255I	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	239					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	F-actin capping protein complex|cytoplasm|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGCCCCACTTCATGGCCGACA	0.582000														46			21		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34015004	34015005	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:34015004_34015005GG>AA	uc001zhi.3	+	43	6778_6779	c.6708_6709GG>AA	c.(6706-6711)ggggga>ggAAga	p.G2237R	RYR3_uc010bar.3_Missense_Mutation_p.G2237R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2237	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G2237E(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGGTGAGGGGGGAAACGGGCT	0.574000														99			36		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909227	65909227	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:65909227T>C	uc002jgf.3	+	10	5288	c.5227T>C	c.(5227-5229)Ttt>Ctt	p.F1743L	BPTF_uc002jge.3_Missense_Mutation_p.F1869L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1869	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GGTCCCTTATTTTAATTACAA	0.383000														126			16		0	0	1	0	0
KAT6B	23522	broad.mit.edu	37	10	76735447	76735447	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:76735447C>T	uc001jwn.1	+	7	1845	c.1352C>T	c.(1351-1353)tCa>tTa	p.S451L	KAT6B_uc001jwm.1_Intron|KAT6B_uc001jwo.1_Intron|KAT6B_uc001jwp.1_Missense_Mutation_p.S451L	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	451	Negatively regulates HAT activity.				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										GGTCGCAGATCACGAGGTGAA	0.413000														32			16		0	0	1	0	0
NOTCH4	4855	broad.mit.edu	37	6	32187921	32187921	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:32187921C>T	uc003obb.3	-	6	1439	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.D434N	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	434	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGACACTCGTCCAGGTCCTGG	0.597000														65			17		0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594824	140594824	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140594824G>A	uc003lja.1	+	0	1316	c.1129G>A	c.(1129-1131)Gga>Aga	p.G377R		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	377	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGATTCAGGAGAAAATGG	0.463000														88			40		0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125726068	125726068	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:125726068C>T	uc003eij.3	-	11	1481	c.1255_splice	c.e11-1	p.V419_splice	SLC41A3_uc003eii.3_Splice_Site_p.V393_splice|SLC41A3_uc003eil.3_Splice_Site_p.V419_splice|SLC41A3_uc003eik.3_Splice_Site_p.V383_splice|SLC41A3_uc011bkh.2_Splice_Site_p.V302_splice	NM_001008485	NP_001008485	Q96GZ6	S41A3_HUMAN	Homo sapiens solute carrier family 41, member 3 (SLC41A3), transcript variant 1, mRNA.	419						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGGATTGTCACCTGTCAGAAG	0.537000														14			8		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42843805	42843805	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:42843805G>A	uc010gor.3	-	9	1175	c.1114C>T	c.(1114-1116)Cca>Tca	p.P372S	TMPRSS2_uc002yzj.3_Missense_Mutation_p.P335S|TMPRSS2_uc010gos.1_Missense_Mutation_p.P335S	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	335	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				TCATAATTTGGATGAGAAATC	0.453000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									57			17		0	0	1	0	0
RASGEF1C	255426	broad.mit.edu	37	5	179554661	179554661	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:179554661G>A	uc003mlq.3	-	4	959	c.662C>T	c.(661-663)cCt>cTt	p.P221L	RASGEF1C_uc003mlr.3_Missense_Mutation_p.P221L|RASGEF1C_uc003mlp.4_Missense_Mutation_p.P70L	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	221	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAACTCCTCAGGCCCGATGTG	0.617000														23			12		0	0	1	0	0
LINC00174	285908	broad.mit.edu	37	7	65842436	65842436	+	RNA	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:65842436C>T	uc003tux.3	-	4		c.3019G>A								Homo sapiens long intergenic non-protein coding RNA 174 (LINC00174), non-coding RNA.																		CCTGGAGCGGCCGCCAACAGG	0.706000														7			3		0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176523630	176523630	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:176523630G>A	uc003mfl.3	+	15	2208	c.2041G>A	c.(2041-2043)Gag>Aag	p.E681K	FGFR4_uc003mfm.3_Missense_Mutation_p.E681K|FGFR4_uc011dfu.2_Missense_Mutation_p.E613K|FGFR4_uc003mfo.3_Missense_Mutation_p.E641K	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	681	Protein kinase.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity	p.E681K(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	CCTGCTATGGGAGATCTTCAC	0.667000										TSP Lung(9;0.080)				16			13		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034973	58034973	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:58034973G>A	uc001nmq.1	-	0	760	c.358C>T	c.(358-360)Ccg>Tcg	p.P120S		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P120P(1)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				TACTGCAACGGGTGGCAAATG	0.537000														17			15		0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109867706	109867706	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:109867706G>T	uc001dxm.2	-	13	1698	c.1649C>A	c.(1648-1650)tCc>tAc	p.S550Y	SORT1_uc010ovi.2_Missense_Mutation_p.S413Y	NM_002959	NP_002950	Q99523	SORT_HUMAN	Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA.	550					Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTCGTCTGTGGAGAACCTGAA	0.458000														8			11		1.58986e-06	1.61057e-06	1	1	0
LIPE	3991	broad.mit.edu	37	19	42931036	42931036	+	Missense_Mutation	SNP	G	A	A	rs138280510		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:42931036G>A	uc002otr.3	-	0	543	c.266C>T	c.(265-267)gCc>gTc	p.A89V	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	89					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTTCTGTGGGGCAAGAAATTC	0.537000														140			68		0	0	1	0	0
SECTM1	6398	broad.mit.edu	37	17	80280143	80280143	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:80280143G>A	uc002keo.3	-	4	1039	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_003004	NP_002995	Q8WVN6	SCTM1_HUMAN	Homo sapiens secreted and transmembrane 1 (SECTM1), mRNA.	214					immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|extracellular space|integral to membrane|plasma membrane	cytokine activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GGTGGGCTCGGAGTCTGGGGT	0.627000														58			21		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848174	56848174	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:56848174A>T	uc001slh.3	-	0	262	c.224T>A	c.(223-225)tTc>tAc	p.F75Y		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	75					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GCCCACAAGGAAAGCAAAAGT	0.597000														39			42		0	0	1	0	0
IL17RD	54756	broad.mit.edu	37	3	57131823	57131823	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:57131823G>A	uc003dil.3	-	11	1997	c.1908C>T	c.(1906-1908)gcC>gcT	p.A636A	IL17RD_uc003dik.3_Silent_p.A612A|IL17RD_uc010hna.3_Silent_p.A492A|IL17RD_uc011bex.1_Silent_p.A492A	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	636						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		TACCGTCAAGGGCAGGCCGGG	0.667000														20			8		0	0	1	0	0
O3FAR1	338557	broad.mit.edu	37	10	95347040	95347040	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:95347040C>T	uc010qnt.2	+	3	864	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	O3FAR1_uc010qnu.2_Missense_Mutation_p.R254C	NM_181745	NP_859529	Q5NUL3	O3FA1_HUMAN	Homo sapiens omega-3 fatty acid receptor 1 (O3FAR1), transcript variant 1, mRNA.	270					negative regulation of cytokine secretion|negative regulation of inflammatory response|regulation of glucose transport	integral to membrane|plasma membrane	fatty acid binding			breast(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)	12						CCACCAGATCCGCGTGTCCCA	0.557000														44			24		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152303088	152303088	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:152303088C>T	uc002txm.3	+	20	2405	c.2244_splice	c.e20+1	p.S748_splice	RIF1_uc010fnv.2_Splice_Site_p.S712_splice|RIF1_uc002txn.3_Splice_Site_p.S748_splice|RIF1_uc002txl.3_Splice_Site_p.S748_splice|RIF1_uc002txo.3_Splice_Site_p.S748_splice	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	748					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GAAGGCTTTTCTGTGAGTTTG	0.388000														72			24		0	0	1	0	0
NPTN	27020	broad.mit.edu	37	15	73866084	73866084	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:73866084C>T	uc002avs.3	-	4	956	c.759G>A	c.(757-759)caG>caA	p.Q253Q	NPTN_uc010bjc.3_Silent_p.Q253Q|NPTN_uc002avt.3_Silent_p.Q137Q|NPTN_uc002avr.3_Silent_p.Q137Q|NPTN_uc010ula.2_Silent_p.Q48Q	NM_012428	NP_036560	Q9Y639	NPTN_HUMAN	Homo sapiens neuroplastin (NPTN), transcript variant b, mRNA.	253	Ig-like 3.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						TAGTGGCATCCTGCCCTTCAT	0.537000														34			26		0	0	1	0	0
B4GALT4	8702	broad.mit.edu	37	3	118942929	118942929	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:118942929A>G	uc003ecg.3	-	4	1291	c.650T>C	c.(649-651)gTt>gCt	p.V217A	B4GALT4_uc003ece.1_Missense_Mutation_p.V217A|B4GALT4_uc003ech.3_Missense_Mutation_p.V217A|B4GALT4_uc003eci.3_Missense_Mutation_p.V217A|B4GALT4_uc011biy.1_Non-coding_Transcript	NM_212543	NP_997708	O60513	B4GT4_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4 (B4GALT4), transcript variant 1, mRNA.	217					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|metal ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	GTTCCTGCCAACCACCAGATG	0.488000														38			17		0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89392670	89392670	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:89392670G>A	uc010upo.1	+	10	2107	c.1733_splice	c.e10-1	p.G578_splice	ACAN_uc002bmx.3_Splice_Site_p.G578_splice|ACAN_uc010upp.1_Splice_Site_p.G578_splice|ACAN_uc002bna.2_Splice_Site	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	578					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGCCCCCAGGGGAGGTGTTCT	0.602000														13			4		0	0	1	0	0
SCARF1	8578	broad.mit.edu	37	17	1538496	1538496	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:1538496C>T	uc002fsz.1	-	10	2099	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Silent_p.E597E	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	683	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCCGAGCTCTCCTGGACGC	0.657000														31			12		0	0	1	0	0
SEMA4F	10505	broad.mit.edu	37	2	74906936	74906936	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:74906936T>G	uc002sna.1	+	13	2024	c.1913T>G	c.(1912-1914)gTg>gGg	p.V638G	SEMA4F_uc010ffr.1_Missense_Mutation_p.V250G|SEMA4F_uc002snb.1_Missense_Mutation_p.V250G|SEMA4F_uc002snc.1_Missense_Mutation_p.V483G	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	638					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCAGCCCATGTGGTAGCAGCT	0.652000														104			6		0	0	1	0	0
PALB2	79728	broad.mit.edu	37	16	23646997	23646997	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:23646997C>T	uc002dlx.1	-	3	1070	c.870G>A	c.(868-870)gaG>gaA	p.E290E		NM_024675	NP_078951	Q86YC2	PALB2_HUMAN	Homo sapiens partner and localizer of BRCA2 (PALB2), mRNA.	290	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TGCCTTGTGCCTCCAAACTTA	0.388000			"""F, N, Mis"""			"""Wilms tumor, medulloblastoma, AML ,breast"""		Involved in tolerance or repair of DNA crosslinks						73			35		0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87967440	87967440	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:87967440A>T	uc003plm.4	+	7	4134	c.4093A>T	c.(4093-4095)Aaa>Taa	p.K1365*		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1365					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)		CAAAAGGGCTAAATGGCCTGC	0.463000														5			8		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45296551	45296551	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:45296551G>T	uc010olf.2	-	5	794	c.782C>A	c.(781-783)cCa>cAa	p.P261Q	PTCH2_uc021omv.1_Missense_Mutation_p.P261Q|PTCH2_uc010olg.2_Intron	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	261					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GGCACTAGGTGGGCAGTGGAG	0.612000									Basal Cell Nevus syndrome					26			5		0.248553	0.249193	1	1	0
MRPL46	26589	broad.mit.edu	37	15	89002879	89002879	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:89002879G>A	uc002bmj.2	-	3	830	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	MRPL46_uc002bmi.1_3'UTR	NM_022163	NP_071446	Q9H2W6	RM46_HUMAN	Homo sapiens mitochondrial ribosomal protein L46 (MRPL46), nuclear gene encoding mitochondrial protein, mRNA.	269						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			ACTTGGGCCAGGTATTTTGGT	0.502000														52			29		0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058513	19058513	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:19058513C>T	uc002dfp.2	+	11	1812	c.1682C>T	c.(1681-1683)tCa>tTa	p.S561L	TMC7_uc002dfq.3_Missense_Mutation_p.S561L|TMC7_uc010vap.2_Missense_Mutation_p.S451L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	561						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCCTTTTTCTCACCCCTTCTC	0.502000														258			135		0	0	1	0	0
HINT2	84681	broad.mit.edu	37	9	35813677	35813677	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:35813677C>T	uc003zyh.3	-	1	252	c.186G>A	c.(184-186)aaG>aaA	p.K62K	SPAG8_uc003zye.3_5'Flank|SPAG8_uc003zyg.3_5'Flank	NM_032593	NP_115982	Q9BX68	HINT2_HUMAN	Homo sapiens histidine triad nucleotide binding protein 2 (HINT2), nuclear gene encoding mitochondrial protein, mRNA.	62	HIT.				apoptosis|steroid biosynthetic process	mitochondrion	hydrolase activity	p.D61N(1)		NS(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			CTGGGAGGCTCTTGTCCAGGA	0.557000											OREG0019179	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		43			25		0	0	1	0	0
IWS1	55677	broad.mit.edu	37	2	128247517	128247517	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:128247517C>A	uc002ton.2	-	10	2353	c.2050G>T	c.(2050-2052)Gag>Tag	p.E684*		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	684	TFIIS N-terminal.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTAGACCACTCATCTGTAGTA	0.368000														86			51		8.00217e-19	8.21331e-19	1	1	0
HPS4	89781	broad.mit.edu	37	22	26860145	26860145	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:26860145G>A	uc003acl.3	-	10	2110	c.1451C>T	c.(1450-1452)cCc>cTc	p.P484L	HPS4_uc003aci.3_Missense_Mutation_p.P479L|HPS4_uc003acj.3_Missense_Mutation_p.P348L|HPS4_uc003ack.3_Missense_Mutation_p.P275L|HPS4_uc003acn.3_Missense_Mutation_p.P330L|HPS4_uc010gvd.1_Missense_Mutation_p.P502L|HPS4_uc003ach.3_Missense_Mutation_p.P219L	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	484					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TTCCCCCGTGGGAAGCTTGTT	0.582000									Hermansky-Pudlak syndrome					213			69		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48275130	48275130	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:48275130C>T	uc002iqm.3	-	8	785	c.659G>A	c.(658-660)cGa>cAa	p.R220Q		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	220	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.R220*(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGGGGGACCTCGGGGACCCAT	0.507000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							64			33		0	0	1	0	0
ODAM	54959	broad.mit.edu	37	4	71067174	71067175	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:71067174_71067175CC>TT	uc003hfc.3	+	6	549_550	c.532_533CC>TT	c.(532-534)cca>TTa	p.P178L		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	178	Gln-rich.				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CTGACAGATACCATTCTATGCT	0.252000														7			4		0	0	1	0	0
ME1	4199	broad.mit.edu	37	6	83933494	83933494	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:83933494G>A	uc003pjy.3	-	11	1699	c.1434C>T	c.(1432-1434)ttC>ttT	p.F478F	ME1_uc011dzb.2_Silent_p.F403F|ME1_uc011dzc.2_Silent_p.F312F	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	478					NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CAGTAGTGAGGAAAATATTAT	0.418000														20			9		0	0	1	0	0
ASB15	142685	broad.mit.edu	37	7	123256301	123256301	+	Missense_Mutation	SNP	G	A	A	rs144930255		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:123256301G>A	uc003vku.1	+	4	426	c.134G>A	c.(133-135)aGa>aAa	p.R45K	ASB15_uc003vkv.1_Missense_Mutation_p.R45K|ASB15_uc003vkw.1_Missense_Mutation_p.R45K	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	45					intracellular signal transduction			p.R45K(2)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GCTCAAAACAGAAAACTTGTG	0.343000														26			5		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730217	140730217	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140730217C>T	uc003ljo.2	+	0	390	c.390C>T	c.(388-390)ttC>ttT	p.F130F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.F130F	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	133	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCACGTTTCGTTGCAAAAG	0.423000														93			15		0	0	1	0	0
SLC45A1	50651	broad.mit.edu	37	1	8390616	8390616	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:8390616G>A	uc001apb.3	+	3	1063	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	SLC45A1_uc001apc.3_Missense_Mutation_p.D53N	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	355					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CATCAGCAGGGACAGCTCCCT	0.647000														15			16		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40757460	40757460	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:40757460G>A	uc002xkg.3	-	18	2965	c.2781C>T	c.(2779-2781)tcC>tcT	p.S927S	PTPRT_uc010ggj.3_Silent_p.S946S|PTPRT_uc010ggi.3_Silent_p.S130S	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	927	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.D927N(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GCCTCACCCGGGAATGGTCGT	0.517000														48			16		0	0	1	0	0
KRT5	3852	broad.mit.edu	37	12	52908816	52908816	+	Silent	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:52908816C>A	uc001san.3	-	8	1846	c.1683G>T	c.(1681-1683)ctG>ctT	p.L561L		NM_000424	NP_000415	P13647	K2C5_HUMAN	Homo sapiens keratin 5 (KRT5), mRNA.	561	Ser-rich.|Tail.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCACCCCCAGCCCTCGGC	0.627000														36			5		0.248553	0.249193	1	1	0
TMPRSS4	56649	broad.mit.edu	37	11	117985983	117985983	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:117985983G>A	uc021qrd.1	+	10	1431	c.1140G>A	c.(1138-1140)gtG>gtA	p.V380V	TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.V375V|TMPRSS4_uc010rxo.2_Silent_p.V378V|TMPRSS4_uc010rxs.2_Silent_p.V340V|TMPRSS4_uc010rxq.2_Silent_p.V233V|TMPRSS4_uc010rxr.2_Silent_p.V355V|TMPRSS4_uc010rxt.2_Silent_p.V355V	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	380	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		AAGGGGGTGTGGACACCTGCC	0.557000														18			3		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1026397	1026397	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1026397C>T	uc001lsw.2	-	19	2527	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	826					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	p.E825fs*6(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CATGGGCACTCCTCGGGGGGC	0.647000														14			6		0	0	1	0	0
ZNF415	55786	broad.mit.edu	37	19	53611914	53611914	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:53611914G>A	uc002qax.3	-	6	1877	c.1528C>T	c.(1528-1530)Cat>Tat	p.H510Y	ZNF415_uc010yds.2_Missense_Mutation_p.H462Y|ZNF415_uc010ydt.2_Missense_Mutation_p.H462Y|ZNF415_uc002qau.3_Missense_Mutation_p.H449Y|ZNF415_uc002qav.3_Missense_Mutation_p.H474Y|ZNF415_uc002qaw.3_Missense_Mutation_p.H462Y|ZNF415_uc002qay.3_Missense_Mutation_p.H449Y|ZNF415_uc002qaz.3_Missense_Mutation_p.H510Y|ZNF415_uc002qba.3_Missense_Mutation_p.H232Y			Q09FC8	ZN415_HUMAN	Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA.	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleolus	DNA binding|zinc ion binding			breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				GBM - Glioblastoma multiforme(134;0.0191)		TCTCCAGTATGGATGACCTGA	0.438000														83			37		0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135080885	135080885	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:135080885G>A	uc021qbe.1	-	20	2376	c.2290C>T	c.(2290-2292)Cct>Tct	p.P764S	ADAM8_uc009ybi.3_Missense_Mutation_p.S708F|ADAM8_uc010qva.2_Missense_Mutation_p.P699S	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	699					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GTGTAGACAGGAACTGGGAAG	0.657000														19			4		0	0	1	0	0
SPECC1	92521	broad.mit.edu	37	17	20108047	20108047	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:20108047C>A	uc002gwq.3	+	3	795	c.685C>A	c.(685-687)Ctt>Att	p.L229I	SPECC1_uc010cqx.3_Missense_Mutation_p.L229I|SPECC1_uc002gwr.3_Missense_Mutation_p.L229I|SPECC1_uc002gws.3_Missense_Mutation_p.L229I|SPECC1_uc002gwv.3_Missense_Mutation_p.L148I|SPECC1_uc010vzf.2_Intron|SPECC1_uc002gwu.3_Missense_Mutation_p.L148I|SPECC1_uc002gwt.3_Missense_Mutation_p.L148I	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	229						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		GATAAGAGCTCTTGAGGAGAA	0.478000														133			73		7.577e-32	7.80782e-32	1	1	0
LYST	1130	broad.mit.edu	37	1	235922707	235922707	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:235922707G>C	uc001hxj.2	-	22	6621	c.6446C>G	c.(6445-6447)tCt>tGt	p.S2149C	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2149					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTCCCCAAAGAATTTTGTTT	0.408000														62			32		0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27457424	27457424	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:27457424C>T	uc002rji.3	+	22	3819	c.3657C>T	c.(3655-3657)gtC>gtT	p.V1219V	CAD_uc010eyw.3_Silent_p.V1156V	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1219	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACGTACGTGTCTCTCGCTCCT	0.547000														112			52		0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60909244	60909245	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:60909244_60909245GG>AA	uc002ycq.3	-	21	2803_2804	c.2736_2737CC>TT	c.(2734-2739)gtccag>gtTTag	p.Q913*	LAMA5_uc021wfw.1_Nonsense_Mutation_p.Q913*|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	913	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCCCACCTGGACAGGTGCCA	0.673000														42			17		0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11784563	11784563	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:11784563C>T	uc002gne.3	+	54	10707	c.10639C>T	c.(10639-10641)Ccc>Tcc	p.P3547S	DNAH9_uc010coo.3_Missense_Mutation_p.P2841S|DNAH9_uc002gnf.3_5'Flank	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3547	AAA 5 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAATACAATCCCAAGTTCCG	0.488000														48			32		0	0	1	0	0
CH25H	9023	broad.mit.edu	37	10	90966332	90966332	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:90966332C>T	uc001kfz.3	-	0	740	c.718G>A	c.(718-720)Gac>Aac	p.D240N		NM_003956	NP_003947	O95992	CH25H_HUMAN	Homo sapiens cholesterol 25-hydroxylase (CH25H), mRNA.	240					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		TGATGCAGGTCGTGGTGCACC	0.572000														25			11		0	0	1	0	0
CLCNKA	1187	broad.mit.edu	37	1	16378885	16378885	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:16378885G>A	uc001axx.4	+	14	1737	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q	CLCNKA_uc021ogl.1_Missense_Mutation_p.R181Q|CLCNKA_uc021ogm.1_Missense_Mutation_p.R365Q|CLCNKA_uc001axy.4_Missense_Mutation_p.R365Q	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	534			R -> W (in dbSNP:rs12140223).		excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TACCTGCCACGGATTCTGGGC	0.597000														14			10		0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8449901	8449901	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:8449901G>A	uc002glm.3	-	11	1335	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	MYH10_uc002gll.3_Silent_p.V403V|MYH10_uc010cnx.3_Silent_p.V412V	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	403	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AGTCTCGGCCGACCTTGATCC	0.463000														28			12		0	0	1	0	0
FSHB	2488	broad.mit.edu	37	11	30253455	30253455	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:30253455G>A	uc001msl.3	+	1	75	c.6G>A	c.(4-6)aaG>aaA	p.K2K	FSHB_uc001msm.3_Silent_p.K2K|FSHB_uc001msn.3_Silent_p.K2K	NM_000510	NP_001018090	P01225	FSHB_HUMAN	Homo sapiens follicle stimulating hormone, beta polypeptide (FSHB), transcript variant 1, mRNA.	2					cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12					Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)	CCAGGATGAAGACACTCCAGT	0.403000														30			9		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995639	57995639	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:57995639C>T	uc010rkd.2	-	0	752	c.709G>A	c.(709-711)Gag>Aag	p.E237K		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A236V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				CGGCGGCCCTCGGCAGAACGG	0.627000														36			32		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52258406	52258406	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:52258406G>A	uc003xqu.4	-	19	4104	c.4003C>T	c.(4003-4005)Cat>Tat	p.H1335Y	PXDNL_uc003xqt.4_Intron	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1335					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CTTCTTAGATGACTTAACTCC	0.353000														28			5		0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665077	6665077	+	Missense_Mutation	SNP	G	C	C	rs138896705		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:6665077G>C	uc002mfk.2	-	4	965	c.583C>G	c.(583-585)Cgg>Ggg	p.R195G	TNFSF14_uc002mfj.2_Missense_Mutation_p.R159G	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	195					T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CACCAGACCCGGGAGCTGCTG	0.662000														32			18		0	0	1	0	0
AARS	16	broad.mit.edu	37	16	70305756	70305756	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:70305756G>A	uc002eyn.1	-	4	709	c.599C>T	c.(598-600)gCc>gTc	p.A200V	AARS_uc010vlu.1_Missense_Mutation_p.A30V	NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	200					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	ATP binding|alanine-tRNA ligase activity|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	AAGATGTGCGGCGTCCCGACC	0.542000														56			21		0	0	1	0	0
TCHHL1	126637	broad.mit.edu	37	1	152057868	152057868	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:152057868G>A	uc001ezo.1	-	2	2355	c.2290C>T	c.(2290-2292)Cca>Tca	p.P764S		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	764							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCTTGGCTGGACTTTTTTGG	0.488000														77			41		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34102825	34102825	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:34102825C>T	uc001zhi.3	+	70	10242	c.10172C>T	c.(10171-10173)tCc>tTc	p.S3391F	RYR3_uc010bar.3_Missense_Mutation_p.S3386F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3391					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.I3390M(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAGCTGATCTCCCTCGCAAAA	0.527000														19			19		0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351977	41351977	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:41351977A>T	uc002opl.4	-	5	878	c.857T>A	c.(856-858)tTc>tAc	p.F286Y	CYP2A6_uc010ehe.1_Missense_Mutation_p.F82Y|CYP2A6_uc010ehf.1_Non-coding_Transcript	NM_000762	NP_000753	P11509	CP2A6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 6 (CYP2A6), mRNA.	286					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	TTTCAAGTAGAACTCCGTGTT	0.557000														38			12		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2375099	2375099	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:2375099G>A	uc002wfy.1	+	2	69	c.8_splice	c.e2-1	p.G3_splice	TGM6_uc010gal.1_Splice_Site_p.G3_splice	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	3					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CCCACCCAGGGATCAGAGTCA	0.612000														32			12		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130218948	130218948	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:130218948G>A	uc004evz.3	+	6	1210	c.865G>A	c.(865-867)Gat>Aat	p.D289N	ARHGAP36_uc004ewa.3_Missense_Mutation_p.D277N|ARHGAP36_uc004ewb.3_Missense_Mutation_p.D258N|ARHGAP36_uc004ewc.3_Missense_Mutation_p.D153N	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	289	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GAATGTGCATGATGTGGCTGC	0.488000														81			38		0	0	1	0	0
TTLL4	9654	broad.mit.edu	37	2	219610920	219610920	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:219610920C>G	uc002viy.3	+	7	2310	c.1940C>G	c.(1939-1941)tCt>tGt	p.S647C	TTLL4_uc010zkl.1_Missense_Mutation_p.S482C|TTLL4_uc010fvx.3_Missense_Mutation_p.S647C|TTLL4_uc010zkm.1_5'UTR	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	647	TTL.				protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CACATGAAGTCTCCTAGTTTC	0.537000														124			51		0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	31977509	31977509	+	RNA	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:31977509C>T	uc021yvf.1	-	8		c.2303G>A						P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB-S, mRNA.						actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCCAGCCGCCCCCATCAGTC	0.657000														35			22		0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46825046	46825046	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:46825046C>T	uc002peh.3	+	9	1189	c.1158C>T	c.(1156-1158)ccC>ccT	p.P386P	HIF3A_uc002peg.4_Silent_p.P386P|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Silent_p.P330P|HIF3A_uc002pej.2_Silent_p.P317P|HIF3A_uc010xxy.2_Silent_p.P317P|HIF3A_uc002pel.3_Silent_p.P384P|HIF3A_uc010xxz.2_Silent_p.P335P	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.R385Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCCCTGGCCCCCGGATCCTTG	0.682000														108			72		0	0	1	0	0
ADAM20	8748	broad.mit.edu	37	14	70989852	70989852	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:70989852G>A	uc021rvs.1	-	0	1773	c.1773C>T	c.(1771-1773)ttC>ttT	p.F591F	ADAM20_uc001xme.3_Silent_p.F591F	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	541	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		CACAGTGACCGAAACGGTTTC	0.418000														33			25		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3141943	3141943	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:3141943C>T	uc002klp.3	-	13	2353	c.2019G>A	c.(2017-2019)gtG>gtA	p.V673V	MYOM1_uc002klq.3_Silent_p.V673V	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	673	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTACCTTTTCCACAAAGTACA	0.512000														56			14		0	0	1	0	0
ZUFSP	221302	broad.mit.edu	37	6	116973262	116973262	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:116973262G>A	uc003pxf.2	-	5	1315	c.1055C>T	c.(1054-1056)tCt>tTt	p.S352F	ZUFSP_uc010kef.2_Missense_Mutation_p.S156F	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	352						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GTCGCCTAAAGATGAATGAAA	0.383000														33			36		0	0	1	0	0
ART5	116969	broad.mit.edu	37	11	3661381	3661381	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:3661381C>T	uc001lyb.1	-	1	671	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ART5_uc001lyc.1_Missense_Mutation_p.G93E|ART5_uc001lyd.3_Missense_Mutation_p.G93E|ART5_uc009yea.3_Missense_Mutation_p.G93E	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	93						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGGCTATTCCATTCTGGGC	0.602000														69			38		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699348	43699348	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:43699348C>T	uc002ovy.3	-	3	889	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.E170K	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	263	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CTCTTAGGTTCACAGGTGAAG	0.453000														155			84		0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13866978	13866978	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:13866978G>A	uc010gcf.3	-	8	938	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SEL1L2_uc002woq.4_Nonsense_Mutation_p.Q147*|SEL1L2_uc010zrl.2_Nonsense_Mutation_p.Q286*|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	286						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTATAGTATTGGTATATGTCC	0.338000														31			15		0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80327881	80327881	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:80327881G>A	uc003hlu.3	-	0	1492	c.1474C>T	c.(1474-1476)Cag>Tag	p.Q492*		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	492					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TCTGTGGCCTGGATCTGTGGT	0.512000														68			30		0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52192508	52192508	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:52192508G>A	uc002xwq.4	-	2	3137	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	ZNF217_uc010gij.1_Missense_Mutation_p.P924L	NM_006526	NP_006517	O75362	ZN217_HUMAN	Homo sapiens zinc finger protein 217 (ZNF217), mRNA.	932					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			ATTGGCCCCGGGCTGGTCAAC	0.522000														93			24		0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641265	55641265	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:55641265C>T	uc010spg.2	+	0	194	c.194C>T	c.(193-195)tCa>tTa	p.S65L		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S65*(2)		central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CGAAATTTCTCATTTTTAGAA	0.403000														142			16		0	0	1	0	0
BAGE	574	broad.mit.edu	37	21	11058322	11058322	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:11058322C>T	uc002yiu.1	-	3	317	c.117_splice	c.e3-1	p.L39_splice	BAGE_uc002yit.1_Splice_Site_p.L39_splice|BAGE_uc002yiv.1_Splice_Site|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.	39						extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000														103			4		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559097	140559097	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140559097C>T	uc011dai.2	+	0	1727	c.1482C>T	c.(1480-1482)ccC>ccT	p.P494P	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	494	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGCCGCCCCAGGATCCGC	0.672000														549			73		0	0	1	0	0
C3orf25	90288	broad.mit.edu	37	3	129123215	129123215	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:129123215G>A	uc003emg.3	-	6	1444	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F		NM_207307	NP_997190			Homo sapiens chromosome 3 open reading frame 25 (C3orf25), mRNA.											breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|prostate(2)	23						TGTCCATCTGGAAAATGATCT	0.577000														54			46		0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56544059	56544059	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:56544059G>A	uc002qmj.3	+	7	2359	c.2359G>A	c.(2359-2361)Gac>Aac	p.D787N	NLRP5_uc002qmi.3_Missense_Mutation_p.D768N	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	787						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGCAGCTGGACCTGGGCAG	0.592000														59			31		0	0	1	0	0
NFATC4	4776	broad.mit.edu	37	14	24839795	24839795	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:24839795C>T	uc001wpc.3	+	1	1512	c.1191C>T	c.(1189-1191)atC>atT	p.I397I	NFATC4_uc010alr.3_Silent_p.I460I|NFATC4_uc010tok.2_Silent_p.I460I|NFATC4_uc010tol.2_Silent_p.I460I|NFATC4_uc010als.2_Silent_p.I410I|NFATC4_uc010too.2_Silent_p.I410I|NFATC4_uc010tom.2_Silent_p.I410I|NFATC4_uc010ton.2_Silent_p.I410I|NFATC4_uc010toq.2_Silent_p.I429I|NFATC4_uc010alt.3_Silent_p.I429I|NFATC4_uc010top.2_Silent_p.I429I|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Silent_p.I397I|NFATC4_uc010tos.2_Silent_p.I327I|NFATC4_uc010tot.2_Silent_p.I385I|NFATC4_uc010tou.2_Silent_p.I327I|NFATC4_uc010tov.2_Silent_p.I385I|NFATC4_uc010tow.2_Silent_p.I327I|NFATC4_uc010alv.3_Silent_p.I385I|NFATC4_uc010tox.2_Silent_p.I327I|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	397					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		ACAGCCCTATCTTCAGGTGAG	0.602000														31			9		0	0	1	0	0
MMAA	166785	broad.mit.edu	37	4	146576528	146576528	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:146576528C>T	uc003ikh.4	+	6	1284	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	400						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTCATTGGGGCCCTGTCCCCA	0.403000														35			31		0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351241	134351242	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:134351241_134351242CC>TT	uc004can.4	+	14	3780_3781	c.3725_3726CC>TT	c.(3724-3726)tcc>tTT	p.S1242F	PRRC2B_uc010mzj.1_Missense_Mutation_p.S825F|PRRC2B_uc004cao.4_Missense_Mutation_p.S600F	NM_013318	NP_037450	Q5JSZ5	PRC2B_HUMAN	Homo sapiens proline-rich coiled-coil 2B (PRRC2B), mRNA.	1242							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TATGGCCCTTCCGACACATGCG	0.579000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			8		0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38185697	38185697	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:38185697C>T	uc009vvi.3	-	13	2532	c.2446G>A	c.(2446-2448)Gag>Aag	p.E816K	EPHA10_uc001cbt.3_Non-coding_Transcript|EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	816	Protein kinase.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGAAGTGTCTCGGGAGCGGCC	0.627000														20			21		0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37027639	37027639	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:37027639C>T	uc004ddl.2	+	0	1208	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	386										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						TCCCAAGACTCGCGTACCTCC	0.627000														46			23		0	0	1	0	0
ESM1	11082	broad.mit.edu	37	5	54281129	54281129	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:54281129C>T	uc003jpk.3	-	0	286	c.217G>A	c.(217-219)Gat>Aat	p.D73N	ESM1_uc010ivt.3_Missense_Mutation_p.D73N	NM_007036	NP_008967	Q9NQ30	ESM1_HUMAN	Homo sapiens endothelial cell-specific molecule 1 (ESM1), transcript variant 1, mRNA.	73	IGFBP N-terminal.				angiogenesis|regulation of cell growth	extracellular region	growth factor activity|insulin-like growth factor binding			breast(1)|kidney(1)|large_intestine(4)|lung(4)	10		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.116)	Lung(15;0.23)			TTCATGCCATCCATGCCTGAG	0.587000														33			29		0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113920500	113920500	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:113920500C>T	uc009xxy.2	-	15	1831	c.1621G>A	c.(1621-1623)Gga>Aga	p.G541R	GPAM_uc001kzp.3_Missense_Mutation_p.G541R|GPAM_uc001kzq.1_Missense_Mutation_p.G541R	NM_020918	NP_065969	Q9HCL2	GPAT1_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase, mitochondrial (GPAM), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	541					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		ACACAATTTCCCAGCAGCTGT	0.453000														35			4		0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42236018	42236018	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:42236018C>T	uc003ose.2	-	4	1874	c.1311G>A	c.(1309-1311)gcG>gcA	p.A437A	TRERF1_uc011duq.1_Silent_p.A437A|TRERF1_uc003osb.2_Silent_p.A276A|TRERF1_uc003osc.2_Silent_p.A276A|TRERF1_uc003osd.2_Silent_p.A437A	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	437					cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GATCTGAGCTCGCTGGGTCTC	0.627000														47			121		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24787976	24787976	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:24787976G>A	uc001wow.3	-	23	3384	c.2965C>T	c.(2965-2967)Cat>Tat	p.H989Y	ADCY4_uc010toh.2_Missense_Mutation_p.H675Y|ADCY4_uc001wox.3_Missense_Mutation_p.H989Y|ADCY4_uc001woy.3_Missense_Mutation_p.H989Y	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	989					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACGGGTCCATGGTTCAACCCT	0.542000														82			37		0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135809486	135809486	+	Silent	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:135809486A>G	uc003eqv.2	+	9	3521	c.2904A>G	c.(2902-2904)gaA>gaG	p.E968E	PPP2R3A_uc011blz.2_Silent_p.E232E|PPP2R3A_uc003eqw.2_Silent_p.E347E	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	968					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity	p.S967F(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGATCTCTGAAGAAGACAAAA	0.343000														24			16		0	0	1	0	0
ESR2	2100	broad.mit.edu	37	14	64699906	64699906	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:64699906C>T	uc001xha.1	-	8	2010	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	ESR2_uc001xgy.2_Intron|ESR2_uc001xgu.3_Intron|ESR2_uc001xgv.3_Intron|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Intron|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Silent_p.P423P	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	514	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGTCCTCTGCCGGGCTGCACT	0.597000														45			14		0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379738	145379738	+	Missense_Mutation	SNP	G	A	A	rs150323691		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:145379738G>A	uc003lnt.3	+	2	734	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3RF2_uc011dbl.1_Missense_Mutation_p.E166K	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	166	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547000														39			23		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561572	9561572	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:9561572G>A	uc002wnl.2	-	4	755	c.210C>T	c.(208-210)atC>atT	p.I70I	PAK7_uc002wnk.2_Silent_p.I70I|PAK7_uc002wnj.2_Silent_p.I70I|PAK7_uc010gby.1_Silent_p.I70I	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	70	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTCCTCTAACGATTGTCTGGG	0.418000														57			49		0	0	1	0	0
NDST4	64579	broad.mit.edu	37	4	115998159	115998159	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:115998159G>A	uc003ibu.3	-	1	713	c.34C>T	c.(34-36)Cga>Tga	p.R12*	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	12			R -> Q (in dbSNP:rs35181627).			Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		ATCAATGTTCGAAAACTTCTC	0.343000														5			5		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223284515	223284515	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:223284515G>A	uc021pjl.1	-	0	1859	c.1859C>T	c.(1858-1860)tCc>tTc	p.S620F	TLR5_uc001hnv.2_Missense_Mutation_p.S620F|TLR5_uc001hnw.2_Missense_Mutation_p.S620F	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	620			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGAGAAGAGGGAAACCCCAGA	0.443000														27			11		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86286850	86286850	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:86286850C>T	uc002blv.1	+	35	8356	c.8186C>T	c.(8185-8187)cCa>cTa	p.P2729L	AKAP13_uc002blu.1_Missense_Mutation_p.P2733L|AKAP13_uc002blw.1_Missense_Mutation_p.P1194L|AKAP13_uc002blx.1_Missense_Mutation_p.P974L	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2729	Interaction with ESR1.				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						TCAGTGTCCCCAAAAAGGAAC	0.522000														124			61		0	0	1	0	0
LYRM4	57128	broad.mit.edu	37	6	5216901	5216901	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:5216901G>A	uc021ykw.1	-	1	363	c.157C>T	c.(157-159)Caa>Taa	p.Q53*	LYRM4_uc003mwp.3_Nonsense_Mutation_p.Q53*|LYRM4_uc003mwq.3_Intron|LYRM4_uc010jnu.3_Nonsense_Mutation_p.Q53*|AK094934_uc003mwn.1_Intron	NM_001164840	NP_001158312	Q9HD34	LYRM4_HUMAN	Homo sapiens LYR motif containing 4 (LYRM4), transcript variant 2, mRNA.	53						mitochondrion|nucleus				endometrium(1)	1	Ovarian(93;0.11)	all_hematologic(90;0.0901)				ACTAGGGTTTGAATTTCTACA	0.348000														81			19		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240130	3240130	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:3240130G>A	uc004crg.4	-	4	3753	c.3596C>T	c.(3595-3597)tCt>tTt	p.S1199F		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1199						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGGAACCAGAGAACTCTCCAC	0.463000														45			27		0	0	1	0	0
APBB1IP	54518	broad.mit.edu	37	10	26792174	26792174	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:26792174G>A	uc001iss.3	+	5	823	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	APBB1IP_uc009xks.1_Missense_Mutation_p.E168K	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	168					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GCTGGCGCTGGAAAAACTGAA	0.408000														42			22		0	0	1	0	0
PHACTR2	9749	broad.mit.edu	37	6	144109959	144109959	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:144109959G>A	uc010khi.3	+	10	1956	c.1757G>A	c.(1756-1758)cGa>cAa	p.R586Q	PHACTR2_uc003qjq.4_Missense_Mutation_p.R575Q|PHACTR2_uc010khh.3_Missense_Mutation_p.R495Q|PHACTR2_uc003qjr.4_Missense_Mutation_p.R506Q	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	575							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AGGATCCTGCGATTTAACGAG	0.527000														17			17		0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49208241	49208241	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:49208241C>T	uc001ngy.3	-	4	855	c.594G>A	c.(592-594)ggG>ggA	p.G198G	FOLH1_uc009yly.3_Silent_p.G183G|FOLH1_uc009ylz.3_Silent_p.G183G|FOLH1_uc001ngz.3_Silent_p.G198G|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	198					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)	TTACAATTTTCCCAGAGCAAT	0.368000														38			13		0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15296072	15296072	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:15296072G>A	uc002nan.3	-	13	2368	c.2292C>T	c.(2290-2292)gtC>gtT	p.V764V	NOTCH3_uc002nao.1_Silent_p.V764V	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	764	EGF-like 19.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			ACACACCCTGGACACCAGGCG	0.612000														42			26		0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122862265	122862265	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:122862265G>A	uc001ucg.2	-	2	483	c.328C>T	c.(328-330)Cag>Tag	p.Q110*	CLIP1_uc001uch.1_Nonsense_Mutation_p.Q110*|CLIP1_uc001uci.1_Nonsense_Mutation_p.Q110*|CLIP1_uc010tae.2_Nonsense_Mutation_p.Q110*	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	110	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGTTCACACTGGAAATACCGA	0.493000														37			68		0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153596421	153596421	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:153596421G>A	uc004fkk.2	-	2	660	c.411C>T	c.(409-411)atC>atT	p.I137I	FLNA_uc010nuu.1_Silent_p.I137I	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	137	Actin-binding.|CH 1.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGCCCAGGATCAGCTTCA	0.617000														154			36		0	0	1	0	0
ARHGAP36	158763	broad.mit.edu	37	X	130220344	130220344	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:130220344G>A	uc004evz.3	+	9	1668	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*	ARHGAP36_uc004ewa.3_Nonsense_Mutation_p.W429*|ARHGAP36_uc004ewb.3_Nonsense_Mutation_p.W410*|ARHGAP36_uc004ewc.3_Nonsense_Mutation_p.W305*	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	441					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						AGCGCGTGTGGAAGTCCAGCC	0.458000														44			30		0	0	1	0	0
GCM1	8521	broad.mit.edu	37	6	52995617	52995617	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:52995617C>T	uc003pbp.3	-	4	763	c.554G>A	c.(553-555)gGg>gAg	p.G185E		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	185						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTCTGTGCTCCCCTTCAGGCT	0.498000														113			14		0	0	1	0	0
PIDD	55367	broad.mit.edu	37	11	803399	803399	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:803399C>T	uc001lro.2	-	2	631	c.484G>A	c.(484-486)Gag>Aag	p.E162K	PIDD_uc009yck.1_5'Flank|PIDD_uc001lrl.1_Missense_Mutation_p.E16K|PIDD_uc001lrm.1_5'UTR|PIDD_uc001lrn.2_Missense_Mutation_p.E16K|PIDD_uc001lrk.2_Missense_Mutation_p.E162K|PIDD_uc001lrp.2_5'UTR	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN	Homo sapiens p53-induced death domain protein (PIDD), transcript variant 1, mRNA.	162					apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding										TCAGGCAGCTCAGAGAGGCAG	0.652000														64			39		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216074149	216074149	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:216074149G>A	uc001hku.1	-	38	7786	c.7399C>T	c.(7399-7401)Ccc>Tcc	p.P2467S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2467	Fibronectin type-III 11.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S2466F(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGTATCTGGGAGAGCCAGGA	0.507000										HNSCC(13;0.011)				50			18		0	0	1	0	0
TRMT1	55621	broad.mit.edu	37	19	13221031	13221031	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:13221031G>A	uc002mwj.2	-	6	1210	c.960C>T	c.(958-960)ttC>ttT	p.F320F	TRMT1_uc010xmy.1_5'Flank|TRMT1_uc002mwk.2_Silent_p.F320F|TRMT1_uc002mwl.3_Silent_p.F320F|TRMT1_uc010xmz.1_Silent_p.F106F	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	320							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CACGCACGTAGAAGTCAGCGC	0.642000														29			15		0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38126600	38126600	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:38126600G>A	uc003gtb.3	+	17	3338	c.2980G>A	c.(2980-2982)Gga>Aga	p.G994R	TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Missense_Mutation_p.G781R|TBC1D1_uc021xnh.1_Missense_Mutation_p.G91R|TBC1D1_uc021xni.1_Missense_Mutation_p.G91R|TBC1D1_uc003gtd.3_Missense_Mutation_p.G6R	NM_015173	NP_055988	Q86TI0	TBCD1_HUMAN	Homo sapiens TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 (TBC1D1), transcript variant 1, mRNA.	994	Rab-GAP TBC.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TTTTCTTCAGGGAACAGAGGT	0.383000														33			14		0	0	1	0	0
GHRL	51738	broad.mit.edu	37	3	10331519	10331519	+	Missense_Mutation	SNP	C	T	T	rs34911341	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:10331519C>T	uc010hdf.2	-	2	287	c.152G>A	c.(151-153)cGa>cAa	p.R51Q	TATDN2_uc011auf.2_Intron|TATDN2_uc011aug.2_Intron|TATDN2_uc011atx.2_Intron|TATDN2_uc011aty.2_Intron|TATDN2_uc011atz.2_Intron|TATDN2_uc011aua.2_Intron|TATDN2_uc010hdl.3_Intron|TATDN2_uc011aub.2_Intron|TATDN2_uc010hdm.3_Intron|TATDN2_uc011auc.2_Intron|TATDN2_uc011aud.2_Intron|TATDN2_uc011aue.2_Intron|GHRLOS_uc011auh.2_Intron|GHRLOS_uc011aui.2_Intron|GHRLOS_uc011auj.2_Intron|GHRLOS_uc010hdn.3_Intron|GHRL_uc010hda.1_Non-coding_Transcript|GHRL_uc010hdb.1_Non-coding_Transcript|GHRL_uc003bvj.1_Missense_Mutation_p.R51Q|GHRL_uc010hdk.2_Missense_Mutation_p.R38Q|GHRL_uc003bvk.3_Non-coding_Transcript|GHRL_uc010hdc.2_Intron|GHRL_uc010hdd.2_Intron|GHRL_uc010hde.2_Missense_Mutation_p.R50Q|GHRL_uc010hdi.2_Missense_Mutation_p.R51Q|GHRL_uc010hdh.2_Missense_Mutation_p.R51Q|GHRL_uc010hdj.2_Missense_Mutation_p.R39Q|GHRLOS_uc011auk.2_Intron	NM_016362	NP_057446	Q9UBU3	GHRL_HUMAN	Homo sapiens ghrelin/obestatin prepropeptide (GHRL), transcript variant 1, mRNA.	51					G-protein coupled receptor protein signaling pathway|actin polymerization or depolymerization|activation of MAPK activity|adult feeding behavior|cartilage development|cortisol secretion|decidualization|dendrite development|elevation of cytosolic calcium ion concentration|glucose metabolic process|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of angiogenesis|negative regulation of circadian sleep/wake cycle, REM sleep|negative regulation of endothelial cell proliferation|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of circadian sleep/wake cycle, non-REM sleep|positive regulation of corticotropin secretion|positive regulation of cortisol secretion|positive regulation of growth hormone secretion|positive regulation of insulin secretion|positive regulation of synaptogenesis|response to estrogen stimulus	axon|endoplasmic reticulum lumen|extracellular space|stored secretory granule	ghrelin receptor binding|growth hormone-releasing hormone activity|protein tyrosine kinase activator activity			breast(2)|large_intestine(1)|lung(1)|ovary(1)	5						TGCTAGAGCTCGGGGCTGCAG	0.567000														127			69		0	0	1	0	0
NPPC	4880	broad.mit.edu	37	2	232790347	232790347	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:232790347G>A	uc021vye.1	-	1	248	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	NPPC_uc002vsl.2_Missense_Mutation_p.P57S	NM_024409	NP_077720	P23582	ANFC_HUMAN	Homo sapiens natriuretic peptide C (NPPC), mRNA.	57					cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction		hormone activity						all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834)		CCGCCCCCGGGAGCCTTGTCG	0.731000														5			7		0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153039360	153039361	+	Missense_Mutation	DNP	GG	AA	AA	rs145360535		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:153039360_153039361GG>AA	uc010nuk.2	+	20	3666_3667	c.3395_3396GG>AA	c.(3394-3396)cgg>cAA	p.R1132Q	PLXNB3_uc004fii.2_Missense_Mutation_p.R1109Q|PLXNB3_uc011mzd.1_Missense_Mutation_p.R748Q|PLXNB3_uc004fij.1_5'Flank|SRPK3_uc004fik.3_5'Flank	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	1109	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGTGCCGGAGCCCTGCTG	0.653000														57			28		0	0	1	0	0
PDLIM1	9124	broad.mit.edu	37	10	97031403	97031403	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:97031403G>T	uc001kkh.3	-	1	344	c.235C>A	c.(235-237)Ctc>Atc	p.L79I		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	79	PDZ.				response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTACAGTGAGAGTCAAGTTG	0.448000														135			55		2.89935e-36	2.99164e-36	1	1	0
MAP4K4	9448	broad.mit.edu	37	2	102504367	102504367	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:102504367T>C	uc002tbc.3	+	29	4085	c.3707T>C	c.(3706-3708)gTt>gCt	p.V1236A	MAP4K4_uc002tbf.3_Missense_Mutation_p.V1189A|MAP4K4_uc002tbd.3_Missense_Mutation_p.V1128A|MAP4K4_uc010yvy.2_Missense_Mutation_p.V1151A|MAP4K4_uc002tbh.3_Missense_Mutation_p.V1081A|MAP4K4_uc002tbg.3_Missense_Mutation_p.V1155A|MAP4K4_uc002tbi.3_Missense_Mutation_p.V958A|MAP4K4_uc010yvz.2_Missense_Mutation_p.V1195A|MAP4K4_uc002tbk.3_Missense_Mutation_p.V610A|MAP4K4_uc021vlq.1_Missense_Mutation_p.V349A|MAP4K4_uc002tbl.3_Missense_Mutation_p.V341A	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	1155					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAGGATGTAGTTCTACAGTGG	0.443000														79			51		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	176934317	176934317	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:176934317G>A	uc001glc.3	-	8	1792	c.1580C>T	c.(1579-1581)cCc>cTc	p.P527L	ASTN1_uc001glb.1_Missense_Mutation_p.P527L|ASTN1_uc001gld.1_Missense_Mutation_p.P527L|ASTN1_uc009wwx.1_Missense_Mutation_p.P527L	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	535					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TTTATCAGAGGGCTGCTCTCC	0.418000														46			29		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118250624	118250624	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:118250624T>A	uc004era.4	-	3	485	c.485A>T	c.(484-486)aAg>aTg	p.K162M		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	162										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCATTTCTTCTTTCCTGGAAG	0.408000														6			7		0	0	1	0	0
OR51I2	390064	broad.mit.edu	37	11	5475368	5475368	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5475368C>T	uc010qzf.2	+	0	731	c.650C>T	c.(649-651)tCc>tTc	p.S217F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 2 (OR51I2), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCTTCCTCTCCTATGTGCTC	0.468000														89			37		0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3424150	3424150	+	RNA	SNP	G	A	A	rs148369098	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:3424150G>A	uc010qxs.1	+	5		c.519G>A			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CATAGAGGACGAAGACTTCTC	0.557000														9			12		0	0	1	0	0
PYGL	5836	broad.mit.edu	37	14	51382635	51382635	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:51382635C>T	uc001wyu.3	-	9	1274	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	PYGL_uc010tqq.2_Missense_Mutation_p.E349K|PYGL_uc010anz.1_Missense_Mutation_p.E189K	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	383					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TCCAGGGCTTCCGGGAGCACT	0.552000														53			6		0	0	1	0	0
DGKZ	8525	broad.mit.edu	37	11	46388880	46388880	+	Silent	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:46388880C>A	uc001ncn.1	+	2	893	c.768C>A	c.(766-768)ccC>ccA	p.P256P	DGKZ_uc001nch.2_Silent_p.P84P|DGKZ_uc010rgq.2_Silent_p.P72P|DGKZ_uc010rgr.2_Silent_p.P72P|DGKZ_uc001ncj.2_Silent_p.P33P|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Silent_p.P67P|DGKZ_uc001ncl.2_Silent_p.P67P|DGKZ_uc009yky.1_Silent_p.P67P|DGKZ_uc010rgs.1_Silent_p.P67P|DGKZ_uc001nci.2_Silent_p.P72P	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	256	Poly-Pro.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein C-terminus binding|protein binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		ACCTGGCCCCCCCTCCGCCCA	0.657000														52			20		4.26978e-12	4.35372e-12	1	1	0
MANBA	4126	broad.mit.edu	37	4	103592546	103592546	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:103592546G>A	uc003hwg.3	-	8	1222	c.1122C>T	c.(1120-1122)ctC>ctT	p.L374L	MANBA_uc011ces.2_Silent_p.L317L	NM_005908	NP_005899	O00462	MANBA_HUMAN	Homo sapiens mannosidase, beta A, lysosomal (MANBA), mRNA.	374					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		ACTGTAAAAGGAGCCGTAACC	0.348000														12			5		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1271141	1271141	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1271141C>T	uc001lta.3	+	30	13090	c.13031C>T	c.(13030-13032)cCc>cTc	p.P4344L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4344	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACCACACCCGTGGCCACC	0.627000														101			29		0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1690839	1690839	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:1690839G>A	uc002ftm.4	-	5	1765	c.1597C>T	c.(1597-1599)Cct>Tct	p.P533S	SMYD4_uc002ftn.1_Missense_Mutation_p.P388S	NM_052928	NP_443160	Q8IYR2	SMYD4_HUMAN	Homo sapiens SET and MYND domain containing 4 (SMYD4), mRNA.	533	SET.						zinc ion binding	p.P533S(2)		breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGATAACAGGGAAGATGCCT	0.557000														4			3		0	0	1	0	0
CES1	1066	broad.mit.edu	37	16	55866947	55866947	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:55866947G>A	uc002eim.3	-	0	129	c.21C>T	c.(19-21)atC>atT	p.I7I	CES1_uc002eil.3_Silent_p.I7I|CES1_uc002ein.3_Silent_p.I7I	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	7				RAFI -> PALV (in Ref. 3; BAA04650, 8; BAC87749/BAC87751, 9; BAF83312/BAF84898 and 11; AAH12418).	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)	GAGTGGCCAGGATAAAGGCAC	0.597000														35			24		0	0	1	0	0
ATP1A3	478	broad.mit.edu	37	19	42492256	42492256	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:42492256G>A	uc002osh.3	-	3	343	c.189C>T	c.(187-189)gcC>gcT	p.A63A	ATP1A3_uc010xwf.2_Silent_p.A74A|ATP1A3_uc010xwg.2_Silent_p.A33A|ATP1A3_uc002osg.3_Silent_p.A63A|ATP1A3_uc010xwh.2_Silent_p.A76A			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	63					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						GCCCATCCCGGGCCAGGATCT	0.637000														47			24		0	0	1	0	0
LDB2	9079	broad.mit.edu	37	4	16510261	16510261	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:16510261G>A	uc003goz.3	-	6	1104	c.788C>T	c.(787-789)tCc>tTc	p.S263F	LDB2_uc003gpa.3_Missense_Mutation_p.S263F|LDB2_uc011bxh.2_Missense_Mutation_p.S235F|LDB2_uc003gpb.3_Missense_Mutation_p.S263F|LDB2_uc010iee.3_Missense_Mutation_p.S263F|LDB2_uc011bxi.2_Missense_Mutation_p.S139F	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	263							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						GCTGCTGGTGGAATTTTTCCT	0.493000														32			6		0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090055	50090055	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:50090055T>A	uc003jon.4	+	11	934	c.752T>A	c.(751-753)tTt>tAt	p.F251Y	PARP8_uc011cpz.2_Missense_Mutation_p.F143Y|PARP8_uc003joo.3_Missense_Mutation_p.F251Y|PARP8_uc003jop.3_Missense_Mutation_p.F251Y	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	251						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATGCAGACATTTGTTACACAG	0.338000														28			21		0	0	1	0	0
KIF13B	23303	broad.mit.edu	37	8	28997699	28997699	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:28997699G>A	uc003xhh.4	-	20	2553	c.2494C>T	c.(2494-2496)Cgg>Tgg	p.R832W	AF086219_uc003xhi.1_Intron	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	832					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACGTGCAGCCGACCTGCCACC	0.542000														17			10		0	0	1	0	0
YSK4	80122	broad.mit.edu	37	2	135743692	135743692	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:135743692G>A	uc002tue.1	-	6	2781	c.2750C>T	c.(2749-2751)tCc>tTc	p.S917F	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.S804F|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.S645F|YSK4_uc002tui.4_Missense_Mutation_p.S934F	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	917							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATATGTCTGGGAAGATGCACT	0.318000														10			9		0	0	1	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20212314	20212314	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:20212314G>A	uc004czu.3	-	5	479	c.479C>T	c.(478-480)tCc>tTc	p.S160F	RPS6KA3_uc011mjk.2_Missense_Mutation_p.S131F|RPS6KA3_uc004czv.3_Missense_Mutation_p.S148F|RPS6KA3_uc011mjl.2_Missense_Mutation_p.S132F|RPS6KA3_uc011mjm.2_Missense_Mutation_p.S132F	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	160	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|central nervous system development|innate immune response|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TACCTCTTTGGATAAGCGTGT	0.299000														12			7		0	0	1	0	0
ZBTB16	7704	broad.mit.edu	37	11	114112908	114112908	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:114112908C>T	uc001pop.3	+	4	1737	c.1473C>T	c.(1471-1473)ttC>ttT	p.F491F	ZBTB16_uc001poq.3_Silent_p.F491F	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	491					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGGCCGTCTTCTGTCTGCTGT	0.597000														25			16		0	0	1	0	0
ZNF180	7733	broad.mit.edu	37	19	44981505	44981505	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:44981505G>A	uc002ozf.4	-	4	1475	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	ZNF180_uc002ozh.4_Missense_Mutation_p.S55F|ZNF180_uc002ozi.4_Missense_Mutation_p.S371F|ZNF180_uc002ozg.4_Missense_Mutation_p.S397F|ZNF180_uc010ejm.3_Missense_Mutation_p.S373F	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TCTCTGATGGGAAACAAGGTG	0.443000														49			25		0	0	1	0	0
NOL4	8715	broad.mit.edu	37	18	31523130	31523130	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:31523130G>A	uc010dmi.3	-	8	1739	c.1441C>T	c.(1441-1443)Cct>Tct	p.P481S	NOL4_uc010xbs.2_Missense_Mutation_p.P196S|NOL4_uc002kxr.4_Missense_Mutation_p.P253S|NOL4_uc010xbt.2_Missense_Mutation_p.P407S|NOL4_uc010dmh.3_Missense_Mutation_p.P343S|NOL4_uc010xbu.2_Missense_Mutation_p.P417S|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Missense_Mutation_p.P166S	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	481						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						AGGTGGGAAGGAATAGGTCGA	0.413000														27			16		0	0	1	0	0
DDHD1	80821	broad.mit.edu	37	14	53525209	53525209	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:53525209G>A	uc001xai.3	-	8	2208	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	DDHD1_uc001xaj.3_Missense_Mutation_p.P667S|DDHD1_uc001xah.3_Missense_Mutation_p.P660S|DDHD1_uc001xag.3_Missense_Mutation_p.P242S|DDHD1_uc001xak.1_Missense_Mutation_p.P56S	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	660	DDHD.				lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GGATCTGTAGGATGAAAAATA	0.408000														98			11		0	0	1	0	0
SNX13	23161	broad.mit.edu	37	7	17890585	17890585	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:17890585G>A	uc003stv.3	-	9	1053	c.840C>T	c.(838-840)atC>atT	p.I280I	SNX13_uc010kuc.3_Silent_p.I77I|SNX13_uc003stw.1_Silent_p.I280I	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	280	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TAGAATCACGGATCTGAAAAC	0.378000														10			4		0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108219114	108219114	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:108219114G>A	uc003dxa.1	-	4	464	c.407C>T	c.(406-408)tCa>tTa	p.S136L		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	136	Myosin head-like.					myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAAGAGACCTGAATATGTCTG	0.423000														40			22		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13794162	13794162	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:13794162C>T	uc003jfd.2	-	47	7935	c.7893G>A	c.(7891-7893)acG>acA	p.T2631T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2631	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGCTCTCTATCGTCCTCTGTG	0.353000									Kartagener syndrome					24			9		0	0	1	0	0
IQCH	64799	broad.mit.edu	37	15	67665766	67665766	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:67665766C>T	uc002aqo.2	+	9	1464	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	IQCH_uc002aqn.2_Missense_Mutation_p.S283L|IQCH_uc002aqp.2_Missense_Mutation_p.S208L|IQCH_uc002aqq.2_Missense_Mutation_p.S204L	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	456										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CATATCCCATCATTAGGTATA	0.433000														43			23		0	0	1	0	0
GDPD5	81544	broad.mit.edu	37	11	75152211	75152211	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:75152211G>A	uc001owo.4	-	14	2007	c.1470C>T	c.(1468-1470)atC>atT	p.I490I	GDPD5_uc001owp.4_Silent_p.I490I|GDPD5_uc001own.4_Silent_p.I245I|GDPD5_uc009yuc.3_Silent_p.I352I|GDPD5_uc009yud.3_Silent_p.I371I	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	490					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AACTCACCATGATCCAGAGGG	0.662000														19			16		0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33632470	33632470	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:33632470A>T	uc002xbk.3	-	6	737	c.703T>A	c.(703-705)Tcc>Acc	p.S235T	TRPC4AP_uc010zur.2_Missense_Mutation_p.S196T|TRPC4AP_uc002xbl.3_Missense_Mutation_p.S235T|TRPC4AP_uc002xbm.1_Missense_Mutation_p.S235T	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	235	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TCGAAATTGGATACTAAGGAA	0.443000														138			18		0	0	1	0	0
GNB2	2783	broad.mit.edu	37	7	100276357	100276358	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:100276357_100276358GG>AA	uc003uwb.3	+	9	1229_1230	c.956_957GG>AA	c.(955-957)ggg>gAA	p.G319E	GNB2_uc003uwf.3_Missense_Mutation_p.G219E	NM_005273	NP_005264	P62879	GBB2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 2 (GNB2), mRNA.	319					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				AGCTGCCTCGGGGTCACCGACG	0.653000														41			15		0	0	1	0	0
ABCD2	225	broad.mit.edu	37	12	39994500	39994500	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:39994500G>A	uc001rmb.2	-	5	1945	c.1519C>T	c.(1519-1521)Ctt>Ttt	p.L507F		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	507	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						GTTATCAAAAGATGCATTCCT	0.348000														86			8		0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38040904	38040904	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:38040904C>T	uc003ati.3	+	8	1453	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc011anl.1_Missense_Mutation_p.R239C|SH3BP1_uc003ath.1_Missense_Mutation_p.R239C|SH3BP1_uc003atj.1_Missense_Mutation_p.R175C|SH3BP1_uc003atk.1_Missense_Mutation_p.R153C|AK097791_uc003atl.1_Intron	NM_018957	NP_061830	Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	239	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CGATTACCATCGCAGGTCACT	0.617000														17			29		0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181692	3181692	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:3181692G>A	uc002fvg.3	-	0	577	c.538C>T	c.(538-540)Ccc>Tcc	p.P180S		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	180					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						ACCTCATTGGGGCCACAGAAG	0.557000														61			23		0	0	1	0	0
ATP2B4	493	broad.mit.edu	37	1	203708958	203708958	+	Silent	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:203708958A>G	uc001gzw.3	+	20	4491	c.3594A>G	c.(3592-3594)ctA>ctG	p.L1198L	ATP2B4_uc001gzv.3_3'UTR|ATP2B4_uc001gzx.3_Silent_p.L265L|ATP2B4_uc009xar.3_3'UTR	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	1234					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)			ACAGCTCTCTACAGAGCCTAG	0.468000														36			6		0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30961298	30961298	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:30961298C>T	uc002yno.1	-	10	1894	c.1430G>A	c.(1429-1431)gGa>gAa	p.G477E	GRIK1_uc002ynn.3_Missense_Mutation_p.G462E|GRIK1_uc011acs.2_Missense_Mutation_p.G477E|GRIK1_uc011act.2_Intron|GRIK1_uc010glq.1_Missense_Mutation_p.G320E	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	477					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)	TAGGCAATATCCTTCAAATCT	0.363000														73			7		0	0	1	0	0
WDR33	55339	broad.mit.edu	37	2	128522429	128522429	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:128522429G>A	uc002tpg.2	-	5	798	c.599C>T	c.(598-600)gCa>gTa	p.A200V	WDR33_uc002tph.2_Missense_Mutation_p.A200V|WDR33_uc002tpi.2_Missense_Mutation_p.A200V	NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	200					postreplication repair|spermatogenesis	collagen|nucleus	protein binding			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		CTCCTTATGTGCCTGGAACAT	0.413000														92			53		0	0	1	0	0
FYCO1	79443	broad.mit.edu	37	3	46001021	46001021	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:46001021G>A	uc011bal.1	-	10	3563	c.3451C>T	c.(3451-3453)Ctc>Ttc	p.L1151F	FYCO1_uc003cpb.4_Missense_Mutation_p.L1151F	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1151					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TTCTGCCAGAGAGCATCCTTG	0.483000														19			25		0	0	1	0	0
ZNF714	148206	broad.mit.edu	37	19	21300841	21300841	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:21300841T>G	uc002npo.4	+	4	1749	c.1371T>G	c.(1369-1371)tgT>tgG	p.C457W	ZNF714_uc002npl.3_Missense_Mutation_p.C303W|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						GTGAAGAATGTGGCAAAGCTT	0.368000														31			12		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047620	9047620	+	Silent	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9047620C>A	uc002mkp.3	-	4	34215	c.34011G>T	c.(34009-34011)gtG>gtT	p.V11337V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11339	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						GGGACTCAGGCACTGTTGGAA	0.488000														124			14		0.0167234	0.0168098	1	1	0
FAM90A1	55138	broad.mit.edu	37	12	8375212	8375212	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:8375212C>T	uc001qui.2	-	6	1160	c.601G>A	c.(601-603)Gaa>Aaa	p.E201K	FAM90A1_uc001quh.2_Missense_Mutation_p.E201K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	201							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCTGTCTTTCCTTTGGTCCA	0.602000														94			33		0	0	1	0	0
POLR1B	84172	broad.mit.edu	37	2	113331210	113331210	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:113331210C>T	uc002thw.2	+	13	2923	c.2343C>T	c.(2341-2343)ctC>ctT	p.L781L	POLR1B_uc010fkn.2_Silent_p.L725L|POLR1B_uc002thx.2_Silent_p.L642L|POLR1B_uc010fko.2_Silent_p.L598L|POLR1B_uc010fkp.2_Silent_p.L220L|POLR1B_uc002thy.2_Silent_p.L642L|POLR1B_uc010yxo.1_Silent_p.L558L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	781					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCATAGACCTCTCTGAAAAAA	0.433000														38			28		0	0	1	0	0
CPLX2	10814	broad.mit.edu	37	5	175306914	175306914	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:175306914G>A	uc003mde.1	+	4	617	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CPLX2_uc003mdf.1_Missense_Mutation_p.E91K|CPLX2_uc021yib.1_5'Flank	NM_006650	NP_006641	Q6PUV4	CPLX2_HUMAN	Homo sapiens complexin 2 (CPLX2), transcript variant 1, mRNA.	91	Interaction with the SNARE complex (By similarity).				mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis	cytosol				endometrium(3)|kidney(2)|lung(3)|ovary(2)	10	all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GCAGCCCTGCGAGGGGAGCCT	0.642000														8			7		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672748	10672748	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:10672748C>T	uc002kos.2	-	50	8119	c.7945G>A	c.(7945-7947)Gaa>Aaa	p.E2649K	PIEZO2_uc002koq.3_Missense_Mutation_p.E441K	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2649						integral to membrane	ion channel activity										ACCACCAGTTCCAGGGCCTGA	0.448000														34			34		0	0	1	0	0
OTUD7A	161725	broad.mit.edu	37	15	31793921	31793921	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:31793921C>T	uc001zfq.3	-	7	1215	c.1122G>A	c.(1120-1122)atG>atA	p.M374I	OTUD7A_uc001zfr.3_Missense_Mutation_p.M381I	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	374	Catalytic (By similarity).|OTU.|TRAF-binding (By similarity).					cytoplasm|nucleus	DNA binding|cysteine-type peptidase activity|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		CTCTCTGTTCCATGGACACAA	0.572000														66			39		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326279	57326279	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:57326279G>A	uc002qnu.2	-	6	3882	c.3531C>T	c.(3529-3531)ttC>ttT	p.F1177F	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.F1148F|PEG3_uc002qnv.2_Silent_p.F1177F|PEG3_uc002qnw.2_Silent_p.F1053F|PEG3_uc002qnx.2_Silent_p.F1051F|PEG3_uc010etr.2_Silent_p.F1177F	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1177					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCTCGAAAAGGAATGAGCTAT	0.443000														85			40		0	0	1	0	0
EVC2	132884	broad.mit.edu	37	4	5624545	5624545	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:5624545G>A	uc003gij.3	-	13	2274	c.2220C>T	c.(2218-2220)acC>acT	p.T740T	EVC2_uc003gik.3_Silent_p.T660T|EVC2_uc011bwb.2_Silent_p.T180T	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	740						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						ACAGCGAAAGGGTCAGGGTCC	0.647000														56			19		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84442363	84442363	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:84442363G>A	uc002bjz.4	+	3	502	c.278G>A	c.(277-279)gGa>gAa	p.G93E	ADAMTSL3_uc002bjy.1_Missense_Mutation_p.G93E|ADAMTSL3_uc010bmt.1_Missense_Mutation_p.G93E	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	93	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACCTGTGGGGGAGGAGCATCA	0.522000														25			10		0	0	1	0	0
ADORA2A	135	broad.mit.edu	37	22	24829621	24829621	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:24829621C>T	uc002zzx.3	+	3	1012	c.249C>T	c.(247-249)ttC>ttT	p.F83F	SPECC1L_uc021wne.1_Non-coding_Transcript|ADORA2A_uc002zzy.4_Silent_p.F83F|ADORA2A_uc021wng.1_Missense_Mutation_p.R103C|ADORA2A_uc011ajs.2_Intron|C22orf45_uc002zzz.2_Intron|ADORA2A_uc010guo.1_Missense_Mutation_p.R103C|ADORA2A_uc010guq.3_Silent_p.F83F|ADORA2A_uc010gup.3_Silent_p.F83F|ADORA2A_uc003aab.3_Silent_p.F83F	NM_000675	NP_000666	P29274	AA2AR_HUMAN	Homo sapiens adenosine A2a receptor (ADORA2A), mRNA.	83					apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception	integral to plasma membrane|membrane fraction	enzyme binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|skin(1)	21	Colorectal(2;0.196)				Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TTGCCTGCTTCGTCCTGGTCC	0.642000														90			24		0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74468145	74468145	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:74468145G>A	uc002axg.1	+	1	1228	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ISLR_uc002axh.1_Missense_Mutation_p.D316N|ISLR_uc021sqf.1_Missense_Mutation_p.D316N	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	316	Ig-like.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GCTTATCCCCGACTTTGGCAA	0.662000														24			24		0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:72190946G>A	uc002atl.4	-	24	4371	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_uc010biq.3_Missense_Mutation_p.P920S|MYO9A_uc002atn.1_Missense_Mutation_p.P1281S|MYO9A_uc002atk.3_Missense_Mutation_p.P24S|MYO9A_uc002atm.1_Missense_Mutation_p.P24S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTCTGAAGGAGAAATACCA	0.468000														47			32		0	0	1	0	0
C18orf34	374864	broad.mit.edu	37	18	30517989	30517989	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:30517989C>T	uc010xbr.1	-	22	2804	c.2662G>A	c.(2662-2664)Gaa>Aaa	p.E888K	C18orf34_uc010xbq.1_Non-coding_Transcript|C18orf34_uc010dme.1_Missense_Mutation_p.E328K|C18orf34_uc002kxn.2_Missense_Mutation_p.E864K|C18orf34_uc010dmf.1_Missense_Mutation_p.E184K|C18orf34_uc002kxo.2_Missense_Mutation_p.E826K	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	864										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						CCATCGTTTTCGCATGTGCCA	0.358000														24			22		0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42531217	42531217	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:42531217G>A	uc010dni.3	+	3	2208	c.1912G>A	c.(1912-1914)Gga>Aga	p.G638R		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	638						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCTAGTGCCGGGAGAGGACAA	0.483000									Schinzel-Giedion syndrome					51			22		0	0	1	0	0
UGT2B15	7366	broad.mit.edu	37	4	69533852	69533852	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:69533852C>T	uc021xow.1	-	1	937	c.779G>A	c.(778-780)cGa>cAa	p.R260Q		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	260					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CCAATAGGTTCGAATGAGCCA	0.398000														63			32		0	0	1	0	0
ACTR1B	10120	broad.mit.edu	37	2	98274416	98274416	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:98274416C>T	uc002syb.2	-	7	1123	c.915G>A	c.(913-915)acG>acA	p.T305T		NM_005735	NP_005726	P42025	ACTY_HUMAN	Homo sapiens ARP1 actin-related protein 1 homolog B, centractin beta (yeast) (ACTR1B), mRNA.	305						centrosome|dynactin complex	ATP binding|protein binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	15						CTTTGAAAAGCGTTGAGCCAC	0.587000														54			28		0	0	1	0	0
NIT2	56954	broad.mit.edu	37	3	100071283	100071283	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:100071283C>T	uc003dtv.3	+	7	694	c.620C>T	c.(619-621)tCt>tTt	p.S207F		NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	207	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GCCACAGCCTCTCCTGCCCGG	0.488000														79			28		0	0	1	0	0
PRDM15	63977	broad.mit.edu	37	21	43241446	43241446	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:43241446G>A	uc002yzq.1	-	22	3246	c.3135C>T	c.(3133-3135)aaC>aaT	p.N1045N	PRDM15_uc002yzo.3_Silent_p.N716N|PRDM15_uc002yzp.3_Silent_p.N736N|PRDM15_uc002yzr.1_Silent_p.N736N	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGTCCGGCAGGTTTTCACGGT	0.592000														82			24		0	0	1	0	0
FAM176C	59271	broad.mit.edu	37	21	33785321	33785321	+	Splice_Site	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:33785321G>T	uc002ypr.1	+	1	570	c.160_splice	c.e1+1	p.G54_splice	FAM176C_uc010glw.1_Splice_Site_p.G54_splice|FAM176C_uc002yps.1_Splice_Site	NM_058187	NP_478067	P58658	CU063_HUMAN	Homo sapiens chromosome 21 open reading frame 63 (C21orf63), mRNA.	54						integral to membrane	sugar binding										CGACTTCTCTGGTAAGAGCGC	0.687000														5			3		1	1	1	1	0
FBN3	84467	broad.mit.edu	37	19	8176593	8176593	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:8176593G>A	uc002mjf.3	-	30	4040	c.4023C>T	c.(4021-4023)gtC>gtT	p.V1341V		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1341	EGF-like 20; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AGGAGCCAGGGACATTGAGAC	0.642000														39			14		0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654961	31654961	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:31654961G>A	uc002ynv.3	-	0	316	c.290C>T	c.(289-291)tCc>tTc	p.S97F		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	97						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						TGCTGATGGGGAGTTGCAGGG	0.562000														34			24		0	0	1	0	0
AK300387	0	broad.mit.edu	37	16	32190787	32190787	+	RNA	SNP	T	C	C	rs143291668	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:32190787T>C	uc010vfv.1	-	6		c.1037A>G								Homo sapiens cDNA FLJ60890 complete cds, moderately similar to HECT domain and RCC1-like domain-containing protein 2.																		TGACAACAACTGCCGTTTGTT	0.522000														25			4		0	0	1	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492586	74492586	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:74492586C>T	uc001dfy.4	-	7	1978	c.1786G>A	c.(1786-1788)Gcc>Acc	p.A596T	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	596								p.A596A(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTCACAGGCTTTTTCAAAG	0.303000														6			3		0	0	1	0	0
SOX7	83595	broad.mit.edu	37	8	10584016	10584016	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:10584016G>A	uc011kwz.2	-	5	588	c.555C>T	c.(553-555)ttC>ttT	p.F185F	BC043573_uc003wtg.1_5'Flank|SOX7_uc003wtf.3_Silent_p.F133F	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	133					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AGCTCAGAAGGAAGCCCGGGT	0.677000														26			9		0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200968576	200968576	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:200968576C>T	uc001gvs.2	-	12	2103	c.1786G>A	c.(1786-1788)Gag>Aag	p.E596K	KIF21B_uc009wzl.2_Missense_Mutation_p.E596K|KIF21B_uc001gvr.2_Missense_Mutation_p.E596K|KIF21B_uc010ppn.2_Missense_Mutation_p.E596K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	596					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCCACTCTCGTCTCGCTCT	0.632000														71			15		0	0	1	0	0
ABHD12	26090	broad.mit.edu	37	20	25319919	25319919	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:25319919G>A	uc002wuq.3	-	1	539	c.260C>T	c.(259-261)cCa>cTa	p.P87L	ABHD12_uc002wus.2_Missense_Mutation_p.P87L	NM_015600	NP_056415	Q8N2K0	ABD12_HUMAN	Homo sapiens abhydrolase domain containing 12 (ABHD12), transcript variant 2, mRNA.	87						integral to membrane	acylglycerol lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	12						GATGAGAAATGGAATGGCAAT	0.408000														17			22		0	0	1	0	0
RPAP3	79657	broad.mit.edu	37	12	48063895	48063895	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:48063895G>A	uc001rpr.3	-	12	1637	c.1521C>T	c.(1519-1521)tcC>tcT	p.S507S	RPAP3_uc010slk.2_Silent_p.S348S|RPAP3_uc001rps.3_Silent_p.S473S	NM_024604	NP_001139548	Q9H6T3	RPAP3_HUMAN	Homo sapiens RNA polymerase II associated protein 3 (RPAP3), transcript variant 1, mRNA.	507							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					CTCACTGCAGGGATGAAGTAT	0.368000														97			12		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	G	G	rs146714035	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000														59			4		0	0	1	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728144	20728144	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:20728144C>T	uc002npa.3	-	3	1045	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K		NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN	Homo sapiens zinc finger protein 737 (ZNF737), mRNA.	289					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TTGCCACATTCTTCACATTTG	0.423000														27			8		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601092	75601092	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:75601092C>T	uc001sxg.1	-	1	1216	c.672G>A	c.(670-672)tcG>tcA	p.S224S	KCNC2_uc009zry.3_Silent_p.S224S|KCNC2_uc001sxe.3_Silent_p.S224S|KCNC2_uc001sxf.3_Silent_p.S224S|KCNC2_uc010stw.1_Silent_p.S224S	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	224					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGCTCTGGACGAGTAGGGGT	0.657000														4			3		0	0	1	0	0
MNF1	84300	broad.mit.edu	37	6	33679350	33679350	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:33679350G>A	uc003ofa.1	-	0	155	c.114C>T	c.(112-114)gcC>gcT	p.A38A	MNF1_uc010jve.1_Non-coding_Transcript	NM_032340	NP_115716	Q9BRT2	CF125_HUMAN	Homo sapiens chromosome 6 open reading frame 125 (C6orf125), mRNA.	38																	CCTCCCGAAAGGCCTGTGCTA	0.662000														102			8		0	0	1	0	0
SAMD9L	219285	broad.mit.edu	37	7	92762752	92762752	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:92762752G>A	uc003umh.1	-	4	3749	c.2533C>T	c.(2533-2535)Cca>Tca	p.P845S	SAMD9L_uc003umj.1_Missense_Mutation_p.P845S|SAMD9L_uc003umi.1_Missense_Mutation_p.P845S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P845S|SAMD9L_uc003umk.1_Missense_Mutation_p.P845S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P845S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P845S|SAMD9L_uc022ahh.1_Missense_Mutation_p.P845S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	845										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTCATCTGGATTCCGGGAT	0.363000														53			28		0	0	1	0	0
MOB1B	92597	broad.mit.edu	37	4	71840938	71840938	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:71840938T>C	uc011cba.2	+	4	653	c.359T>C	c.(358-360)aTt>aCt	p.I120T	MOB1B_uc003hfv.2_Missense_Mutation_p.I115T|MOB1B_uc003hfw.3_Missense_Mutation_p.I115T	NM_001244766	NP_001231695	Q7L9L4	MOL1A_HUMAN	Homo sapiens MOB kinase activator 1B (MOB1B), transcript variant 1, mRNA.	115					hippo signaling cascade|protein autophosphorylation	cytoplasm|nucleus	kinase activator activity|kinase binding|metal ion binding										CCAAAGTATATTGATTACTTG	0.368000														30			30		0	0	1	0	0
SLC6A8	6535	broad.mit.edu	37	X	152959641	152959641	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:152959641C>T	uc004fib.3	+	8	1589	c.1311C>T	c.(1309-1311)taC>taT	p.Y437Y	SLC6A8_uc004fic.3_Silent_p.Y427Y|SLC6A8_uc011myx.1_Silent_p.Y322Y|SLC6A8_uc010nuj.2_Non-coding_Transcript	NM_005629	NP_001136278	P48029	SC6A8_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 8 (SLC6A8), transcript variant 1, mRNA.	437					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	CGGCCTCCTACTACTTCCGTT	0.622000														53			44		0	0	1	0	0
IGDCC3	9543	broad.mit.edu	37	15	65625748	65625748	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:65625748G>A	uc002aos.2	-	5	1081	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	277	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCGATAGGGCGACCATCTGCA	0.567000														13			11		0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23522810	23522810	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:23522810G>A	uc003jgo.3	+	7	880	c.698G>A	c.(697-699)gGg>gAg	p.G233E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	233					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.G233W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTGGACAAGGGGCACCCCAAC	0.557000										HNSCC(3;0.000094)				33			14		0	0	1	0	0
MORC4	79710	broad.mit.edu	37	X	106186377	106186377	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:106186377C>T	uc004emu.4	-	14	2019	c.1744G>A	c.(1744-1746)Gag>Aag	p.E582K	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.E582K|MORC4_uc004emw.4_Missense_Mutation_p.E330K	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	582							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTTGTCATCTCATTCTGGAGC	0.448000														79			27		0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434952	107434952	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:107434952C>T	uc003ver.2	-	1	214	c.3G>A	c.(1-3)atG>atA	p.M1I	SLC26A3_uc003ves.2_5'UTR	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	1					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGGGTTCAATCATTTTGATTT	0.383000														22			22		0	0	1	0	0
MAGEA3	4102	broad.mit.edu	37	X	151935417	151935417	+	Silent	SNP	G	A	A	rs149076914		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:151935417G>A	uc022chl.1	-	0	750	c.750C>T	c.(748-750)ttC>ttT	p.F250F	MAGEA3_uc004fgp.3_Silent_p.F250F	NM_005362	NP_005353	P43357	MAGA3_HUMAN	Homo sapiens melanoma antigen family A, 3 (MAGEA3), mRNA.	250	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGCACGAAATGTTGGG	0.537000														113			39		0	0	1	0	0
LIPJ	142910	broad.mit.edu	37	10	90356597	90356597	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:90356597C>T	uc001kff.3	+	7	941	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_001010939	NP_001010939	Q5W064	LIPJ_HUMAN	Homo sapiens lipase, family member J (LIPJ), mRNA.	209					lipid catabolic process		hydrolase activity			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTAAAAAATTCATTGGTTCAA	0.308000														70			30		0	0	1	0	0
CRYAA	1409	broad.mit.edu	37	21	44592193	44592193	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:44592193T>A	uc002zdd.1	+	2	394	c.325T>A	c.(325-327)Tac>Aac	p.Y109N		NM_000394	NP_000385	P02489	CRYAA_HUMAN	Homo sapiens crystallin, alpha A (CRYAA), mRNA.	109					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CGACCACGGCTACATTTCCCG	0.677000														36			14		0	0	1	0	0
GPATCH2	55105	broad.mit.edu	37	1	217793706	217793706	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:217793706C>T	uc001hlf.1	-	1	288	c.192G>A	c.(190-192)caG>caA	p.Q64Q	GPATCH2_uc001hlg.4_Silent_p.Q64Q	NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	64						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TTTTCCTTGCCTGGCGTTTCA	0.488000														64			39		0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7002915	7002915	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:7002915C>T	uc011bwg.2	+	6	1286	c.1207C>T	c.(1207-1209)Cct>Tct	p.P403S	TBC1D14_uc003gjs.4_Missense_Mutation_p.P403S|TBC1D14_uc010idh.3_Missense_Mutation_p.P123S|TBC1D14_uc011bwh.2_Missense_Mutation_p.P16S|TBC1D14_uc003gju.4_5'UTR	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	403	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						GCAGGGAATCCCTCCAAGTGT	0.488000														31			6		0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105407986	105407986	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:105407986G>A	uc010axc.1	-	6	13922	c.13802C>T	c.(13801-13803)cCa>cTa	p.P4601L	AHNAK2_uc021sen.1_5'UTR|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4501L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4601						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CATGGATCCTGGGGCCTGGAC	0.612000														94			17		0	0	1	0	0
GPRC5D	55507	broad.mit.edu	37	12	13102842	13102842	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:13102842C>T	uc010shp.2	-	0	477	c.477G>A	c.(475-477)gtG>gtA	p.V159V		NM_018654	NP_061124	Q9NZD1	GPC5D_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member D (GPRC5D), mRNA.	159						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		GTGTCATATTCACAAACATCA	0.458000														31			35		0	0	1	0	0
SPNS3	201305	broad.mit.edu	37	17	4348419	4348419	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:4348419C>T	uc002fxt.3	+	2	402	c.358C>T	c.(358-360)Ctg>Ttg	p.L120L	SPNS3_uc002fxu.3_Intron	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	120					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGGTATCTTGCTGTGGTCAGG	0.612000														80			38		0	0	1	0	0
NLGN4X	57502	broad.mit.edu	37	X	5821596	5821596	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:5821596C>T	uc010ndi.3	-	5	1698	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	NLGN4X_uc004crp.3_Missense_Mutation_p.E395K|NLGN4X_uc010ndh.3_Missense_Mutation_p.E375K|NLGN4X_uc004crq.3_Missense_Mutation_p.E375K|NLGN4X_uc004crr.3_Missense_Mutation_p.E375K|NLGN4X_uc010ndj.3_Missense_Mutation_p.E375K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	375					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TTCAGGCCTTCCCCTTGGTTG	0.582000														24			3		0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61951495	61951495	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:61951495C>T	uc011aau.2	+	23	3121	c.3021C>T	c.(3019-3021)ttC>ttT	p.F1007F	COL20A1_uc011aav.2_Silent_p.F828F	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1007	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGCGGGCTTCGTCACGCTGG	0.726000														4			7		0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076610	134076610	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:134076610G>A	uc001qhd.1	-	7	1506	c.900C>T	c.(898-900)ttC>ttT	p.F300F	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	300					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GCATTTGATGGAAAACACAAC	0.418000														47			16		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54314350	54314350	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:54314350C>T	uc002qcj.4	-	2	783	c.563G>A	c.(562-564)gGa>gAa	p.G188E	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.G188E|NLRP12_uc002qci.4_Missense_Mutation_p.G188E|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.G188E	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	188					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCCTGGTGTCCCACGGTCCT	0.652000														53			30		0	0	1	0	0
HECW2	57520	broad.mit.edu	37	2	197172730	197172730	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:197172730C>T	uc002utm.1	-	10	2697	c.2514G>A	c.(2512-2514)ccG>ccA	p.P838P	HECW2_uc002utl.1_Silent_p.P482P	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	838	Interaction with TP73.|WW 1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGGAGCTGTCGGTCGCTGCC	0.567000														32			28		0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85686841	85686841	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:85686841C>T	uc003yct.4	+	2	457	c.323C>T	c.(322-324)cCa>cTa	p.P108L	RALYL_uc003ycq.4_Missense_Mutation_p.P95L|RALYL_uc003ycr.4_Missense_Mutation_p.P95L|RALYL_uc003ycs.4_Missense_Mutation_p.P95L|RALYL_uc010lzy.3_Missense_Mutation_p.P95L|RALYL_uc003ycu.4_Missense_Mutation_p.P22L	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	95							RNA binding|identical protein binding|nucleotide binding	p.S107P(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						GAGCCCAAACCATACAGACCA	0.353000														7			4		0	0	1	0	0
TMEM181	57583	broad.mit.edu	37	6	159028297	159028297	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:159028297C>T	uc003qrm.4	+	7	1017	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TMEM181_uc010kjr.1_Missense_Mutation_p.R167W	NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	336					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		GCATTCCCTCCGGAAATTTTC	0.507000														17			15		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566549	4566549	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:4566549G>A	uc010qyf.2	+	0	129	c.129G>A	c.(127-129)ggG>ggA	p.G43G		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTGGTGGGGAATGTGACCA	0.557000														40			21		0	0	1	0	0
DUPD1	338599	broad.mit.edu	37	10	76803759	76803759	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:76803759G>A	uc001jwq.1	-	1	217	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	Homo sapiens dual specificity phosphatase and pro isomerase domain containing 1 (DUPD1), mRNA.	73	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AGCCTATAGCGGTCCAGCGCC	0.697000														19			11		0	0	1	0	0
CHST13	166012	broad.mit.edu	37	3	126261355	126261355	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:126261355C>T	uc003eja.3	+	2	1005	c.960C>T	c.(958-960)ttC>ttT	p.F320F		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	320					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GGCGCCTCTTCGACCTCTACA	0.697000														17			6		0	0	1	0	0
HMHA1	23526	broad.mit.edu	37	19	1085685	1085685	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:1085685G>A	uc002lqz.1	+	22	3322	c.3091G>A	c.(3091-3093)Gac>Aac	p.D1031N	HMHA1_uc010xgd.1_Missense_Mutation_p.D1047N|HMHA1_uc010xge.1_Missense_Mutation_p.D899N|HMHA1_uc002lra.1_Missense_Mutation_p.D871N|HMHA1_uc002lrb.1_Missense_Mutation_p.D914N|HMHA1_uc002lrc.1_Missense_Mutation_p.D666N	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	1031					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAACGATTCGGACTCGGACCT	0.617000														11			4		0	0	1	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51958926	51958926	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:51958926C>T	uc002pwt.3	-	3	864	c.797G>A	c.(796-798)gGa>gAa	p.G266E	SIGLEC8_uc010yda.2_Missense_Mutation_p.G157E|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.G173E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	266	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGAGCCATTTCCCAGGGCTGT	0.532000														45			12		0	0	1	0	0
LHX3	8022	broad.mit.edu	37	9	139092476	139092476	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:139092476C>T	uc004cgz.3	-	1	337	c.218G>A	c.(217-219)cGc>cAc	p.R73H	LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Missense_Mutation_p.R68H	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	68	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		GCTGAAGCAGCGCTCGGCCAG	0.622000														25			17		0	0	1	0	0
RABGGTA	5875	broad.mit.edu	37	14	24734913	24734913	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:24734913G>A	uc001wof.3	-	15	2034	c.1612C>T	c.(1612-1614)Ctc>Ttc	p.L538F	TGM1_uc001wod.3_5'Flank|TGM1_uc010tog.2_5'Flank|RABGGTA_uc001wog.3_Missense_Mutation_p.L538F	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	538					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		TGCAGGTTGAGGAGGACCAGC	0.602000														11			5		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48677424	48677424	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:48677424C>T	uc003cuf.1	-	35	9888	c.9888G>A	c.(9886-9888)tcG>tcA	p.S3296S	CELSR3_uc010hkf.3_Silent_p.S488S|CELSR3_uc010hkg.3_Silent_p.S1181S|CELSR3_uc003cul.3_Silent_p.S3198S	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3198					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCGAGAGTTCGAGCTCCTAG	0.662000														32			10		0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109925	95109925	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:95109925G>A	uc001ydt.3	+	2	962	c.874G>A	c.(874-876)Gac>Aac	p.D292N						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						CTTCCTGCACGACCGTGAGCT	0.582000														14			22		0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376712	8376712	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:8376712C>T	uc001qui.2	-	4	782	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	FAM90A1_uc001quh.2_Missense_Mutation_p.E75K	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	75							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		CCTTCCTTTTCCCCAAAGTTC	0.547000														66			66		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51913404	51913404	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:51913404C>T	uc003pah.1	-	22	2569	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K	PKHD1_uc003pai.3_Missense_Mutation_p.E765K	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	765					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TCTGTTCCTTCAGTGGGCACA	0.532000														65			30		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598213	179598213	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:179598213C>T	uc021vsy.1	-	50	12300	c.12075G>A	c.(12073-12075)ctG>ctA	p.L4025L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L686L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4952							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)			TCACCTGGATCAGTTCTGCTC	0.468000														155			52		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8217908	8217908	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:8217908G>A	uc003gkv.4	+	5	653	c.552G>A	c.(550-552)gaG>gaA	p.E184E	SH3TC1_uc003gkw.4_Silent_p.E108E|SH3TC1_uc003gkx.4_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	184							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAGTGAGGAGGAGGAGACGG	0.607000														14			10		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121973120	121973120	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:121973120G>A	uc003eew.4	+	1	522	c.84G>A	c.(82-84)aaG>aaA	p.K28K	CASR_uc003eev.4_Silent_p.K28K	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	28					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GAGCCCAAAAGAAGGGGGACA	0.522000														70			45		0	0	1	0	0
GNAZ	2781	broad.mit.edu	37	22	23438119	23438119	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:23438119C>T	uc002zwu.1	+	1	774	c.237C>T	c.(235-237)gaC>gaT	p.D79D	RTDR1_uc002zwt.3_Intron	NM_002073	NP_002064	P19086	GNAZ_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha z polypeptide (GNAZ), mRNA.	79						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		ATGCCATCGACTCGCTGACCC	0.612000														252			41		0	0	1	0	0
IRS4	8471	broad.mit.edu	37	X	107978401	107978401	+	Missense_Mutation	SNP	C	T	T	rs143812272		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:107978401C>T	uc004eoc.2	-	0	1207	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	392						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity	p.E392K(4)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAAGCATCTCGTCTTCCCCG	0.652000														95			28		0	0	1	0	0
DPRX	503834	broad.mit.edu	37	19	54135382	54135382	+	Missense_Mutation	SNP	C	T	T	rs148896232	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:54135382C>T	uc002qcf.1	+	0	73	c.22C>T	c.(22-24)Cgt>Tgt	p.R8C		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		AGAGGATCTTCGTAAAGGTAA	0.507000														70			48		0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212543850	212543850	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:212543850G>C	uc002veg.1	-	12	1647	c.1549C>G	c.(1549-1551)Cca>Gca	p.P517A	ERBB4_uc002veh.1_Missense_Mutation_p.P517A|ERBB4_uc010zji.1_Missense_Mutation_p.P517A|ERBB4_uc010zjj.1_Missense_Mutation_p.P517A|ERBB4_uc010fut.1_Missense_Mutation_p.P517A	NM_005235	NP_005226	Q15303	ERBB4_HUMAN	Homo sapiens v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian) (ERBB4), transcript variant JM-a/CVT-1, mRNA.	517	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CATTGGTCTGGCCCAGGTCCC	0.488000										TSP Lung(8;0.080)				20			8		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111427899	111427899	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:111427899C>T	uc003iab.4	+	3	1367	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	342					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATGAATTATTCTCTTCCTAAA	0.289000														6			9		0	0	1	0	0
ZNF532	55205	broad.mit.edu	37	18	56587329	56587329	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:56587329C>T	uc010xeg.2	+	2	2007	c.1810C>T	c.(1810-1812)Ccc>Tcc	p.P604S	ZNF532_uc002lhp.3_Missense_Mutation_p.P602S|ZNF532_uc002lho.3_Missense_Mutation_p.P604S|ZNF532_uc002lhr.3_Missense_Mutation_p.P602S|ZNF532_uc002lhs.3_Missense_Mutation_p.P602S	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	604					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CCTCAGTCCTCCCGCCAATGC	0.542000														25			12		0	0	1	0	0
FBN3	84467	broad.mit.edu	37	19	8137961	8137961	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:8137961G>A	uc002mjf.3	-	60	7940	c.7923C>T	c.(7921-7923)ttC>ttT	p.F2641F	FBN3_uc002mje.3_Silent_p.F437F	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2641	EGF-like 44; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GCCCAGCCCGGAAGTAGCCTT	0.647000														54			35		0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47990747	47990747	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:47990747C>T	uc002xur.1	-	1	1516	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	KCNB1_uc002xus.1_Missense_Mutation_p.M450I	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	450					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGCATCCTTCATGTTCATGG	0.453000														215			41		0	0	1	0	0
OR51I1	390063	broad.mit.edu	37	11	5461959	5461959	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5461959C>T	uc010qze.2	-	0	825	c.786G>A	c.(784-786)atG>atA	p.M262I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005288	NP_001005288	Q9H343	O51I1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCGGTGAATCATGGAGACAG	0.483000														47			26		0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14766139	14766139	+	Missense_Mutation	SNP	T	C	C	rs35617837		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:14766139T>C	uc001rcd.3	-	26	3271	c.3134A>G	c.(3133-3135)cAa>cGa	p.Q1045R		NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	1045			Q -> R (in dbSNP:rs35617837).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TCTGGGTTTTTGGCTTCTTAT	0.438000														129			138		0	0	1	0	0
LMF2	91289	broad.mit.edu	37	22	50942041	50942041	+	Missense_Mutation	SNP	C	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:50942041C>G	uc003blp.2	-	13	1934	c.1903G>C	c.(1903-1905)Gcc>Ccc	p.A635P	LMF2_uc003blo.2_Missense_Mutation_p.A610P	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	635						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCGGGGGCCTCCAGGGGA	0.687000														7			4		0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52859943	52859943	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:52859943G>A	uc011bem.2	-	5	746	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	ITIH4_uc011bel.2_5'UTR|ITIH4_uc003dfy.3_Missense_Mutation_p.R104C|ITIH4_uc003dfz.3_Missense_Mutation_p.R240C|ITIH4_uc011ben.2_Missense_Mutation_p.R240C	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	240					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACATCATAGCGGATAATGAGG	0.567000														28			15		0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2711115	2711115	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:2711115C>T	uc009zdu.1	+	22	3322	c.3009C>T	c.(3007-3009)tcC>tcT	p.S1003S	CACNA1C_uc001qkc.2_Silent_p.S983S|CACNA1C_uc001qjz.2_Silent_p.S983S|CACNA1C_uc001qkd.2_Silent_p.S983S|CACNA1C_uc001qke.2_Silent_p.S983S|CACNA1C_uc001qkf.2_Silent_p.S983S|CACNA1C_uc009zdw.1_Silent_p.S983S|CACNA1C_uc001qkg.2_Silent_p.S983S|CACNA1C_uc001qkh.2_Silent_p.S983S|CACNA1C_uc001qkl.2_Silent_p.S1003S|CACNA1C_uc001qkj.2_Silent_p.S983S|CACNA1C_uc001qkk.2_Silent_p.S983S|CACNA1C_uc001qkn.2_Silent_p.S983S|CACNA1C_uc001qkm.2_Silent_p.S983S|CACNA1C_uc001qko.2_Silent_p.S1003S|CACNA1C_uc001qkp.2_Silent_p.S983S|CACNA1C_uc001qkq.2_Silent_p.S983S|CACNA1C_uc001qku.2_Silent_p.S983S|CACNA1C_uc001qkr.2_Silent_p.S983S|CACNA1C_uc001qks.2_Silent_p.S983S|CACNA1C_uc001qkt.2_Silent_p.S983S|CACNA1C_uc009zdv.1_Silent_p.S980S|CACNA1C_uc001qkb.2_Silent_p.S983S|CACNA1C_uc001qka.1_Silent_p.S518S|CACNA1C_uc001qki.1_Silent_p.S719S	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1003					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCCTCATCTCCTTTGGCATCC	0.587000														51			17		0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097292	144097292	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:144097292C>T	uc022aoj.1	-	4	958	c.958G>A	c.(958-960)Ggg>Agg	p.G320R		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	320					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.G320W(1)|p.?(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GAGCCGGCCCCCTTTACCATG	0.587000														49			24		0	0	1	0	0
MMRN2	79812	broad.mit.edu	37	10	88704978	88704978	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:88704978C>T	uc001kea.3	-	3	575	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Missense_Mutation_p.E107K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	150						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TCCTGAGGTTCCTGGTGGCTG	0.562000														27			16		0	0	1	0	0
LRRC23	10233	broad.mit.edu	37	12	7016547	7016547	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:7016547C>T	uc001qrt.4	+	4	951	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W	LRRC23_uc001qrp.3_Missense_Mutation_p.R187W|LRRC23_uc001qrq.3_Missense_Mutation_p.R187W|LRRC23_uc001qrs.3_Missense_Mutation_p.R136W|LRRC23_uc009zfh.3_Intron	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	187										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGTGGAGCTTCGGGGGAACCA	0.572000														53			57		0	0	1	0	0
EIF4G2	1982	broad.mit.edu	37	11	10823691	10823691	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:10823691G>A	uc001mjb.3	-	12	1738	c.586C>T	c.(586-588)Cgt>Tgt	p.R196C	EIF4G2_uc009ygf.3_Missense_Mutation_p.R402C|EIF4G2_uc001mjc.3_Missense_Mutation_p.R196C|EIF4G2_uc001mjd.3_Missense_Mutation_p.R402C|EIF4G2_uc001mjf.1_Missense_Mutation_p.R196C|SNORD97_uc009yge.3_5'Flank	NM_001418	NP_001409	P78344	IF4G2_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 2 (EIF4G2), transcript variant 1, mRNA.	402	MIF4G.				RNA metabolic process|cell cycle arrest|cell death|regulation of translational initiation	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGATTTGAACGATGACGTCCC	0.453000														51			21		0	0	1	0	0
CCDC38	120935	broad.mit.edu	37	12	96292383	96292383	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:96292383G>A	uc001tek.2	-	5	730	c.496C>T	c.(496-498)Cga>Tga	p.R166*		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	166								p.R166Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCATTTTCTCGAAGGAACTCT	0.388000														29			58		0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680822	33680822	+	Missense_Mutation	SNP	G	T	T	rs149238570		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:33680822G>T	uc002hjg.4	-	3	1702	c.1455C>A	c.(1453-1455)gaC>gaA	p.D485E	SLFN11_uc010ctr.3_Missense_Mutation_p.D485E|SLFN11_uc010ctp.3_Missense_Mutation_p.D485E|SLFN11_uc010ctq.3_Missense_Mutation_p.D485E|SLFN11_uc002hjh.4_Missense_Mutation_p.D485E	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	485						nucleus	ATP binding	p.D485V(1)		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)		GAGTGCAGTAGTCCTGGCCCT	0.557000														10			8		4.68919e-08	4.76265e-08	1	1	0
C1R	715	broad.mit.edu	37	12	7242295	7242295	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:7242295C>T	uc010sfy.2	-	3	518	c.459G>A	c.(457-459)ggG>ggA	p.G153G	C1R_uc010sfz.1_Silent_p.G167G|C1R_uc021quh.1_Silent_p.G42G|C1R_uc010sga.1_Silent_p.G119G	NM_001733	NP_001724	P00736	C1R_HUMAN	Homo sapiens complement component 1, r subcomponent (C1R), mRNA.	153	EGF-like; calcium-binding (Potential).				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GATCCTCCTCCCCTGATTTGC	0.552000														55			25		0	0	1	0	0
CYLD	1540	broad.mit.edu	37	16	50815202	50815202	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:50815202C>T	uc021tib.1	+	7	1687	c.1564C>T	c.(1564-1566)Cgg>Tgg	p.R522W	CYLD_uc002ego.3_Missense_Mutation_p.R519W|CYLD_uc010cbs.1_Missense_Mutation_p.R519W|CYLD_uc002egp.1_Missense_Mutation_p.R519W|CYLD_uc002egq.1_Missense_Mutation_p.R519W|CYLD_uc002egr.1_Missense_Mutation_p.R519W|CYLD_uc002egs.1_Missense_Mutation_p.R519W	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	522	CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAGAGGCACTCGGTATTTCAC	0.468000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					47			22		0	0	1	0	0
TBCD	6904	broad.mit.edu	37	17	80755672	80755672	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:80755672C>T	uc002kfy.1	+	7	941	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	TBCD_uc002kfx.1_Missense_Mutation_p.P254S|TBCD_uc002kfz.3_Missense_Mutation_p.P271S	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	271					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	GTPase activator activity|beta-tubulin binding|chaperone binding					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGACTGTTTGCCCTATGGTAA	0.269000														19			5		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999337	20999337	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:20999337C>T	uc010vbe.2	-	44	6652	c.6652G>A	c.(6652-6654)Gac>Aac	p.D2218N	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2218	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTTAAAATGTCATCCTCAAAG	0.403000														50			25		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088326	9088326	+	Silent	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9088326G>T	uc002mkp.3	-	0	3693	c.3489C>A	c.(3487-3489)ccC>ccA	p.P1163P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1163	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						TTGTGACTTTGGGAGTAGGAG	0.483000														48			20		5.26018e-13	5.37769e-13	1	1	0
TBX1	6899	broad.mit.edu	37	22	19747196	19747196	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:19747196G>A	uc002zqa.1	+	1	159	c.30G>A	c.(28-30)atG>atA	p.M10I	TBX1_uc002zqb.3_Missense_Mutation_p.M10I|TBX1_uc002zqc.3_Missense_Mutation_p.M10I	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	10					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)				CCAGGGACATGGAAGGTGAGC	0.682000														19			8		0	0	1	0	0
SLC25A22	79751	broad.mit.edu	37	11	792389	792390	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:792389_792390GG>AA	uc001lri.3	-	7	1040_1041	c.656_657CC>TT	c.(655-657)tcc>tTT	p.S219F	CEND1_uc001lrh.1_5'Flank|SLC25A22_uc009yci.3_Missense_Mutation_p.S219F|SLC25A22_uc001lrj.3_Missense_Mutation_p.S219F	NM_024698	NP_078974	Q9H936	GHC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier: glutamate), member 22 (SLC25A22), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	219						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity	p.S219S(2)		endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACTTCTCCTCGGACGCCGGGCG	0.649000														102			42		0	0	1	0	0
DUS3L	56931	broad.mit.edu	37	19	5789499	5789499	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:5789499G>A	uc002mdc.3	-	2	716	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Non-coding_Transcript	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	207					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGGCCGTTGCGGATGGACGGG	0.726000														18			5		0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392578	140392578	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:140392578C>T	uc010ncj.1	-	16	2214	c.1877G>A	c.(1876-1878)cGa>cAa	p.R626Q	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.R601Q	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	601					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GTATATTGCTCGCCCGGCCTC	0.622000														52			26		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7220821	7220821	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:7220821G>A	uc002gga.1	-	26	4284	c.4277C>T	c.(4276-4278)gCc>gTc	p.A1426V	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Missense_Mutation_p.A1424V	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)				CCGTACAGCGGCAACATTGCT	0.602000														65			43		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76424696	76424696	+	Silent	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:76424696G>T	uc010dhp.2	-	76	12623	c.12498C>A	c.(12496-12498)gtC>gtA	p.V4166V	DNAH17_uc002jvq.3_Silent_p.V451V|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)			TCTCTGAGGTGACCGTCAGAA	0.562000														35			14		1.5739e-10	1.60064e-10	1	1	0
SREBF1	6720	broad.mit.edu	37	17	17723494	17723494	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:17723494G>A	uc002gru.2	-	1	627	c.433C>T	c.(433-435)Ctg>Ttg	p.L145L	SREBF1_uc002grp.2_5'Flank|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_5'UTR|SREBF1_uc002grs.2_Silent_p.L121L|SREBF1_uc002grt.2_Silent_p.L175L|SREBF1_uc010cpp.1_Silent_p.L121L|SREBF1_uc010cpq.1_Silent_p.L145L	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	145	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTCTGTGGCAGGAGGGCCCCT	0.657000														24			15		0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150706110	150706110	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:150706110C>T	uc003wif.3	+	17	2501	c.2205C>T	c.(2203-2205)taC>taT	p.Y735Y	NOS3_uc011kuy.2_Silent_p.Y529Y	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	735					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCAGAGGTACCGGCTGAGCG	0.687000											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		22			5		0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149902735	149902735	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:149902735G>A	uc001etl.4	-	13	1664	c.1413C>T	c.(1411-1413)acC>acT	p.T471T	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.T399T|MTMR11_uc010pbm.1_3'UTR|MTMR11_uc010pbn.1_3'UTR	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	471	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GGAAGGTAAGGGTGTCAGGAA	0.463000														24			12		0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380277	25380278	+	Missense_Mutation	DNP	GA	TC	TC	rs121913238		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:25380277_25380278GA>TC	uc001rgp.1	-	2	361_362	c.180_181TC>GA	c.(178-183)ggtcaa>ggGAaa	p.Q61K	KRAS_uc001rgq.1_Missense_Mutation_p.Q61K	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TACTCCTCTTGACCTGCTGTGT	0.411000	Q61K(CALU6_LUNG)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				38			39		0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71549017	71549017	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:71549017C>T	uc002atb.1	+	4	1057	c.978C>T	c.(976-978)ttC>ttT	p.F326F	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	326						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ACAAGCCATTCATGGGCCGGT	0.413000														87			41		0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5701270	5701270	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5701270G>A	uc001mbm.2	-	1	441	c.138C>T	c.(136-138)tcC>tcT	p.S46S	TRIM5_uc001mbq.1_Silent_p.S46S|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Silent_p.S46S|TRIM5_uc001mbp.3_Silent_p.S46S|TRIM5_uc021qcx.1_Silent_p.S46S	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	46					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TGTCTAGCATGGACTTCTTGT	0.557000														78			28		0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54080199	54080199	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:54080199A>T	uc002qbx.1	+	6	1819	c.385A>T	c.(385-387)Aat>Tat	p.N129Y	ZNF331_uc002qby.1_Missense_Mutation_p.N129Y|ZNF331_uc002qbz.1_Missense_Mutation_p.N129Y|ZNF331_uc010eqr.1_Missense_Mutation_p.N129Y|ZNF331_uc002qca.1_Missense_Mutation_p.N129Y|ZNF331_uc021uzg.1_Missense_Mutation_p.N129Y|ZNF331_uc021uzh.1_Missense_Mutation_p.N129Y|ZNF331_uc002qcb.1_Missense_Mutation_p.N129Y|ZNF331_uc002qcc.1_Missense_Mutation_p.N129Y|ZNF331_uc002qcd.1_Missense_Mutation_p.N129Y	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCATAAGGAGAATTCCTTTGA	0.413000			T	?	follicular thyroid adenoma									58			21		0	0	1	0	0
NAP1L2	4674	broad.mit.edu	37	X	72433738	72433738	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:72433738C>T	uc004ebi.3	-	0	973	c.591G>A	c.(589-591)gtG>gtA	p.V197V		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	197	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CGTCCTCATCCACATATTCAT	0.433000														23			12		0	0	1	0	0
OR4C3	256144	broad.mit.edu	37	11	48346845	48346845	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:48346845C>T	uc010rhv.2	+	0	353	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						AGAACCATCTCTTATGAGTGC	0.438000														250			32		0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49640091	49640091	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:49640091C>T	uc002pmr.3	+	14	2108	c.1776C>T	c.(1774-1776)tcC>tcT	p.S592S	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Silent_p.S516S|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.S460S	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	592						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGCTGCTGTCCCCCAGTGGGC	0.667000														5			5		0	0	1	0	0
ADCY4	196883	broad.mit.edu	37	14	24795359	24795359	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:24795359G>A	uc001wow.3	-	11	2000	c.1581C>T	c.(1579-1581)ccC>ccT	p.P527P	ADCY4_uc010toh.2_Silent_p.P213P|ADCY4_uc001wox.3_Silent_p.P527P|ADCY4_uc001woy.3_Silent_p.P527P	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	527					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding|protein binding	p.P527L(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTAGTCCCCGGGGGGTACGGC	0.602000														29			13		0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71871413	71871413	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:71871413G>A	uc001jqm.3	+	8	1552	c.1093G>A	c.(1093-1095)Gag>Aag	p.E365K	AIFM2_uc010qjg.2_Intron	NM_018649	NP_061119	Q9P0M6	H2AW_HUMAN	Homo sapiens H2A histone family, member Y2 (H2AFY2), mRNA.	365	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTACGTGCAGGAGATGGCCAA	0.567000														25			12		0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65909225	65909225	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:65909225A>T	uc002jgf.3	+	10	5286	c.5225A>T	c.(5224-5226)tAt>tTt	p.Y1742F	BPTF_uc002jge.3_Missense_Mutation_p.Y1868F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1868	Thr-rich.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding	p.P1741P(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GAGGTCCCTTATTTTAATTAC	0.378000														130			16		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79343054	79343054	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:79343054C>T	uc003hlb.2	+	33	5018	c.4578C>T	c.(4576-4578)atC>atT	p.I1526I	FRAS1_uc003hkw.3_Silent_p.I1526I|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1525					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTCCTATCCGGTATTTCA	0.542000														129			82		0	0	1	0	0
TGM6	343641	broad.mit.edu	37	20	2384227	2384227	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:2384227G>A	uc002wfy.1	+	9	1155	c.1094_splice	c.e9-1	p.G365_splice	TGM6_uc010gal.1_Splice_Site_p.G365_splice	NM_198994	NP_945345	O95932	TGM3L_HUMAN	Homo sapiens transglutaminase 6 (TGM6), transcript variant 1, mRNA.	365					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	TCCTGCCCAGGTGTGTTCCGG	0.632000														86			39		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51523985	51523986	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:51523985_51523986GT>AA	uc003pah.1	-	60	11214_11215	c.10938_10939AC>TT	c.(10936-10941)tcacat>tcTTat	p.H3647Y		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3647					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGCCCTATGTGAGTTCATTT	0.426000														109			6		0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24372725	24372725	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:24372725C>T	uc002dmf.3	+	3	1691	c.489C>T	c.(487-489)gaC>gaT	p.D163D		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	163					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		ACGCCGGAGACCCCGGGCAGC	0.458000														102			54		0	0	1	0	0
PTCHD4	442213	broad.mit.edu	37	6	47847072	47847072	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:47847072G>A	uc011dwm.2	-	2	1542	c.1508C>T	c.(1507-1509)tCc>tTc	p.S503F	PTCHD4_uc011dwn.2_Missense_Mutation_p.S250F	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	503						integral to membrane	hedgehog receptor activity										CATGGCATAGGAAACACTTGG	0.468000														42			3		0	0	1	0	0
GSTA2	2939	broad.mit.edu	37	6	52615393	52615393	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:52615393C>T	uc003pay.3	-	6	801	c.651G>A	c.(649-651)agG>agA	p.R217R		NM_000846	NP_000837	P09210	GSTA2_HUMAN	Homo sapiens glutathione S-transferase alpha 2 (GSTA2), mRNA.	217					glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	TGAAAATCTTCCTTGATTCTT	0.403000														86			19		0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62284730	62284730	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:62284730G>A	uc001ntl.3	-	4	17459	c.17159C>T	c.(17158-17160)tCc>tTc	p.S5720F	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5720					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)				TTTAGGTTTGGAAAAATTAAA	0.493000														77			42		0	0	1	0	0
SIN3B	23309	broad.mit.edu	37	19	16942392	16942392	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:16942392C>T	uc002ney.2	+	2	338	c.315C>T	c.(313-315)ccC>ccT	p.P105P	SIN3B_uc002new.3_Silent_p.P105P|SIN3B_uc002nez.2_Silent_p.P105P	NM_015260	NP_056075	O75182	SIN3B_HUMAN	Homo sapiens SIN3 transcription regulator homolog B (yeast) (SIN3B), mRNA.	105	Interaction with REST (By similarity).|PAH 1.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTTTTCTTCCCCTCGGATATA	0.488000														82			42		0	0	1	0	0
SCN8A	6334	broad.mit.edu	37	12	52163718	52163718	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:52163718C>T	uc001ryw.3	+	17	3617	c.3439C>T	c.(3439-3441)Cct>Tct	p.P1147S	SCN8A_uc010snl.2_Missense_Mutation_p.P1147S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1147					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)	AGAAGAGGTCCCTGTGGAACA	0.517000														5			4		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187000064	187000064	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:187000064A>G	uc003iyq.3	+	2	613	c.512A>G	c.(511-513)gAa>gGa	p.E171G	TLR3_uc011ckz.2_5'Flank	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	171					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GTTCAGCTGGAAAATCTCCAA	0.308000														22			5		0	0	1	0	0
KCNG4	93107	broad.mit.edu	37	16	84270436	84270436	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:84270436G>A	uc010voc.2	-	1	777	c.656C>T	c.(655-657)cCc>cTc	p.P219L	KCNG4_uc002fhu.1_Missense_Mutation_p.P219L	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	219						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GACCTTCCCGGGCAGCCCGGA	0.682000														42			14		0	0	1	0	0
KCNN3	3782	broad.mit.edu	37	1	154841787	154841787	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:154841787C>T	uc021pah.1	-	0	968	c.654G>A	c.(652-654)gaG>gaA	p.E218E	KCNN3_uc001ffp.3_Silent_p.E218E|KCNN3_uc009wox.1_Silent_p.E218E	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	223						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			AGATGACGATCTCCGGGGGGT	0.652000														41			15		0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875713	46875713	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:46875713G>A	uc002zhi.3	+	0	290	c.269G>A	c.(268-270)gGc>gAc	p.G90D	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	90					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGAAGATGGCCAGGACACC	0.647000														96			26		0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175898140	175898140	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:175898140G>A	uc003iuc.3	+	4	2134	c.1464G>A	c.(1462-1464)aaG>aaA	p.K488K	ADAM29_uc003iud.3_Silent_p.K488K|ADAM29_uc010irr.3_Silent_p.K488K|ADAM29_uc011cki.2_Silent_p.K488K|ADAM29_uc021xuo.1_Silent_p.K488K	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	488	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TTCCCTGTAAGGAGAGGGGCT	0.458000														74			24		0	0	1	0	0
TBC1D22B	55633	broad.mit.edu	37	6	37250042	37250042	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:37250042C>T	uc003onn.3	+	3	649	c.503C>T	c.(502-504)tCg>tTg	p.S168L	TBC1D22B_uc010jwt.3_Non-coding_Transcript	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.	168						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			GCCCGGATCTCGGATCAGAAC	0.537000														76			18		0	0	1	0	0
GPR110	266977	broad.mit.edu	37	6	46977219	46977219	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:46977219A>C	uc003oyt.3	-	10	2151	c.1952T>G	c.(1951-1953)gTg>gGg	p.V651G	GPR110_uc011dwl.2_Missense_Mutation_p.V339G	NM_153840	NP_722582	Q5T601	GP110_HUMAN	Homo sapiens G protein-coupled receptor 110 (GPR110), transcript variant 1, mRNA.	651					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T650M(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGAAGGGTTCACCGTGGTGTC	0.493000														35			12		0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131528728	131528729	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:131528728_131528729GG>AA	uc003kwh.3	-	14	2146_2147	c.1582_1583CC>TT	c.(1582-1584)cct>TTt	p.P528F	P4HA2_uc003kwg.3_Missense_Mutation_p.P526F|P4HA2_uc003kwi.3_Missense_Mutation_p.P526F|P4HA2_uc003kwk.3_Missense_Mutation_p.P526F|P4HA2_uc003kwl.3_Missense_Mutation_p.P528F|P4HA2_uc003kwj.3_Missense_Mutation_p.P526F	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	528						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	TGATCCACAAGGTCTCAAGAAC	0.446000														36			15		0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110831649	110831649	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:110831649C>T	uc001vqw.4	-	29	2435	c.2313G>A	c.(2311-2313)gcG>gcA	p.A771A		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	771	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GGGGTCCGATCGCTCCATGTT	0.572000														66			37		0	0	1	0	0
CSF3R	1441	broad.mit.edu	37	1	36937959	36937959	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:36937959C>T	uc001caw.2	-	7	1461	c.877G>A	c.(877-879)Gag>Aag	p.E293K	CSF3R_uc001cav.2_Missense_Mutation_p.E293K|CSF3R_uc001cax.2_Missense_Mutation_p.E293K	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	293	Fibronectin type-III 2.				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCGCAGAGCTCATACTGAAGG	0.682000														17			24		0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963486	88963486	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:88963486G>A	uc011khi.2	+	3	1728	c.1190G>A	c.(1189-1191)aGt>aAt	p.S397N		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	397						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAACAAAAGAGTACAGTGCAT	0.368000										HNSCC(36;0.09)				23			15		0	0	1	0	0
EGR2	1959	broad.mit.edu	37	10	64573331	64573331	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:64573331T>C	uc010qio.2	-	2	1126	c.1106A>G	c.(1105-1107)gAg>gGg	p.E369G	EGR2_uc010qim.2_Missense_Mutation_p.E356G|EGR2_uc010qin.2_Missense_Mutation_p.E306G|EGR2_uc001jmi.3_Missense_Mutation_p.E356G|EGR2_uc009xph.3_Missense_Mutation_p.E356G	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	356					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	RNA polymerase II activating transcription factor binding|chromatin binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					CCGTGTCAGCTCGTCAGAGCG	0.627000														56			33		0	0	1	0	0
UPB1	51733	broad.mit.edu	37	22	24906739	24906739	+	Silent	SNP	G	A	A	rs149187760		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:24906739G>A	uc003aaf.3	+	3	1682	c.387G>A	c.(385-387)acG>acA	p.T129T	UPB1_uc003aae.3_Silent_p.T61T	NM_016327	NP_057411	Q9UBR1	BUP1_HUMAN	Homo sapiens ureidopropionase, beta (UPB1), mRNA.	129	CN hydrolase.				pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	beta-ureidopropionase activity|metal ion binding			endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	22	Colorectal(2;0.0339)					CCTTCTGTACGAGAGAGAAGC	0.527000														103			26		0	0	1	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983613	127983613	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:127983613C>T	uc003eki.3	+	3	813	c.775C>T	c.(775-777)Cct>Tct	p.P259S		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	259						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						TGTGGAGATCCCTGCCCTCAA	0.572000														23			20		0	0	1	0	0
ZNF610	162963	broad.mit.edu	37	19	52869958	52869958	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:52869958C>T	uc002pyx.4	+	5	1733	c.1327C>T	c.(1327-1329)Ctt>Ttt	p.L443F	ZNF610_uc002pyy.4_Missense_Mutation_p.L443F|ZNF610_uc002pyz.4_Missense_Mutation_p.L400F|ZNF610_uc002pza.3_Missense_Mutation_p.L443F	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		AAATCCACACCTTTCACGACA	0.413000														39			20		0	0	1	0	0
POTEE	445582	broad.mit.edu	37	2	132021806	132021806	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:132021806G>A	uc002tsn.2	+	14	2830	c.2778G>A	c.(2776-2778)gaG>gaA	p.E926E	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.E526E|POTEE_uc002tsl.2_Silent_p.E508E|POTEE_uc010fmy.1_Silent_p.E390E	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	926	Actin-like.						ATP binding										TCGAGCAGGAGATGGCCACGG	0.617000														286			22		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48677162	48677162	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:48677162C>T	uc002irk.1	+	16	4004	c.3632C>T	c.(3631-3633)gCc>gTc	p.A1211V	CACNA1G_uc002iri.1_Missense_Mutation_p.A1211V|CACNA1G_uc002irj.1_Missense_Mutation_p.A1188V|CACNA1G_uc002irl.1_Missense_Mutation_p.A1188V|CACNA1G_uc002irm.1_Missense_Mutation_p.A1188V|CACNA1G_uc002irn.1_Missense_Mutation_p.A1188V|CACNA1G_uc002iro.1_Missense_Mutation_p.A1188V|CACNA1G_uc002irp.1_Missense_Mutation_p.A1211V|CACNA1G_uc002irq.1_Missense_Mutation_p.A1188V|CACNA1G_uc002irr.1_Missense_Mutation_p.A1211V|CACNA1G_uc002irs.1_Missense_Mutation_p.A1211V|CACNA1G_uc002irt.1_Missense_Mutation_p.A1211V|CACNA1G_uc002iru.1_Missense_Mutation_p.A1188V|CACNA1G_uc002irv.1_Missense_Mutation_p.A1211V|CACNA1G_uc002irw.1_Missense_Mutation_p.A1188V|CACNA1G_uc002irx.1_Missense_Mutation_p.A1124V|CACNA1G_uc002iry.1_Missense_Mutation_p.A1124V|CACNA1G_uc002isg.1_Missense_Mutation_p.A1124V|CACNA1G_uc002ish.1_Missense_Mutation_p.A1124V|CACNA1G_uc002isi.1_Missense_Mutation_p.A1101V|CACNA1G_uc002irz.1_Missense_Mutation_p.A1124V|CACNA1G_uc002isa.1_Missense_Mutation_p.A1124V|CACNA1G_uc002isd.1_Missense_Mutation_p.A1124V|CACNA1G_uc002isb.1_Missense_Mutation_p.A1124V|CACNA1G_uc002isc.1_Missense_Mutation_p.A1124V|CACNA1G_uc002ise.1_Missense_Mutation_p.A1124V|CACNA1G_uc002isf.1_Missense_Mutation_p.A1124V|CACNA1G_uc002isj.3_5'UTR	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1211					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTGGCCCGGGCCCTGCGGCCT	0.677000														24			16		0	0	1	0	0
CYP7B1	9420	broad.mit.edu	37	8	65537001	65537001	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:65537001A>C	uc003xvj.2	-	1	422	c.218T>G	c.(217-219)cTt>cGt	p.L73R		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	73					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTGCTTTTGAAGTGTTTTCAT	0.388000														70			35		0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49004380	49004380	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:49004380C>T	uc002pjk.3	-	10	1111	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TCAAACAGCTCCCACAGGGTC	0.657000														14			8		0	0	1	0	0
PDZD4	57595	broad.mit.edu	37	X	153073973	153073973	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:153073973C>T	uc004fja.1	-	1	388	c.138G>A	c.(136-138)gtG>gtA	p.V46V	PDZD4_uc004fiy.1_5'UTR|PDZD4_uc004fiz.1_Silent_p.V46V|PDZD4_uc004fix.2_5'UTR|PDZD4_uc011mze.1_Intron	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	46						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)					GCACCTGGATCACCAGGGGCT	0.652000														20			3		0	0	1	0	0
KIAA0556	23247	broad.mit.edu	37	16	27777647	27777647	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:27777647A>G	uc002dow.3	+	19	3851	c.3827A>G	c.(3826-3828)aAc>aGc	p.N1276S		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	1276										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						GATGGCACCAACATCACCATG	0.652000														52			23		0	0	1	0	0
DMRTA2	63950	broad.mit.edu	37	1	50885069	50885069	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:50885069G>A	uc010ona.2	-	1	993	c.897C>T	c.(895-897)gcC>gcT	p.A299A	DMRTA2_uc010onb.2_Silent_p.A299A	NM_032110	NP_115486	Q96SC8	DMTA2_HUMAN	Homo sapiens DMRT-like family A2 (DMRTA2), mRNA.	299	Gly-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(4)|pancreas(1)	6						GCGCCGGCGCGGCCTCACCCT	0.726000														37			43		0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1338022	1338022	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:1338022C>T	uc003jch.3	-	4	721	c.675G>A	c.(673-675)ctG>ctA	p.L225L	CLPTM1L_uc003jcg.3_Silent_p.L92L	NM_030782	NP_110409	Q96KA5	CLP1L_HUMAN	Homo sapiens CLPTM1-like (CLPTM1L), mRNA.	225					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CACTCACCATCAGGTCCTTCA	0.592000														12			4		0	0	1	0	0
LRTM1	57408	broad.mit.edu	37	3	54952855	54952855	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:54952855C>T	uc003dhl.3	-	2	803	c.669G>A	c.(667-669)agG>agA	p.R223R	CACNA2D3_uc003dhf.3_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron	NM_020678	NP_065729	Q9HBL6	LRTM1_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 1 (LRTM1), mRNA.	223	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		CATGAGGGATCCTAAGGAGGT	0.547000														14			9		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128392192	128392192	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:128392192G>A	uc002top.3	+	40	5622	c.5569G>A	c.(5569-5571)Gac>Aac	p.D1857N	MYO7B_uc002tos.2_5'UTR	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1857	FERM 2.|MyTH4 3.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GAAGGAGGGAGACTTCTTCTT	0.582000														9			3		0	0	1	0	0
ZNF483	158399	broad.mit.edu	37	9	114304771	114304771	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:114304771G>A	uc004bff.2	+	5	1780	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	519					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTCATACTGGAGAAAAACCT	0.388000														21			18		0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756633	94756633	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:94756633A>T	uc001yct.3	-	1	764	c.298T>A	c.(298-300)Ttc>Atc	p.F100I	SERPINA10_uc001ycu.4_Missense_Mutation_p.F100I	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.	100					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)		AATGGAGAGAAGACCATGTTG	0.572000														41			5		0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55027863	55027863	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:55027863G>A	uc002iuu.3	-	1	771	c.740C>T	c.(739-741)tCc>tTc	p.S247F		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	247	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					AGACTCCGAGGAGGAACTGGG	0.433000														73			31		0	0	1	0	0
DOCK11	139818	broad.mit.edu	37	X	117817113	117817113	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:117817113A>T	uc004eqp.2	+	51	6098	c.6035A>T	c.(6034-6036)tAc>tTc	p.Y2012F	DOCK11_uc004eqq.2_Missense_Mutation_p.Y1791F	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	2012	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAGTTGAGTACCATGAAGGG	0.358000														95			30		0	0	1	0	0
NLRP10	338322	broad.mit.edu	37	11	7982181	7982181	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:7982181G>A	uc001mfv.1	-	1	995	c.978C>T	c.(976-978)tcC>tcT	p.S326S		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	326	NACHT.						ATP binding	p.S326F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCGTGAAATAGGAGCTGAAGT	0.517000														71			43		0	0	1	0	0
SERPINA5	5104	broad.mit.edu	37	14	95056479	95056479	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:95056479C>T	uc001ydm.2	+	3	931	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	SERPINA5_uc010ave.2_Nonsense_Mutation_p.Q241*|SERPINA3_uc001ydo.4_5'Flank	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	241					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCGCGAGGATCAGTATCACTA	0.567000														20			11		0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100682230	100682230	+	Silent	SNP	T	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:100682230T>C	uc003uxp.1	+	2	7586	c.7533T>C	c.(7531-7533)agT>agC	p.S2511S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2511	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAACTGCTAGTGAAGGAAGTA	0.488000														233			144		0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21856288	21856288	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:21856288G>A	uc003svc.3	+	64	10588	c.10557G>A	c.(10555-10557)atG>atA	p.M3519I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3519	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTATGGAATGGACCTGAAAG	0.458000									Kartagener syndrome					40			11		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141750572	141750572	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:141750572C>T	uc003vwy.3	+	23	2767	c.2713C>T	c.(2713-2715)Ctt>Ttt	p.L905F		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	905	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATTAAAATTCTTGGGACGGA	0.383000														30			10		0	0	1	0	0
GCC2	9648	broad.mit.edu	37	2	109088034	109088034	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:109088034T>C	uc002tec.3	+	5	2403	c.2249T>C	c.(2248-2250)gTt>gCt	p.V750A	GCC2_uc002ted.3_Missense_Mutation_p.V649A	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	750					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AATGAGCAAGTTCAGAAGTTA	0.299000														45			29		0	0	1	0	0
LGALS9B	284194	broad.mit.edu	37	17	20354881	20354881	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:20354881G>A	uc002gxa.1	-	9	902	c.837C>T	c.(835-837)gtC>gtT	p.V279V	LGALS9B_uc002gwz.1_Silent_p.V278V|LGALS9B_uc010vzh.1_Silent_p.V191V	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	279	Galectin 2.						sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GGGTGTTACGGACCACAGCAT	0.587000														21			16		0	0	1	0	0
ERC2	26059	broad.mit.edu	37	3	56114906	56114906	+	Missense_Mutation	SNP	A	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:56114906A>T	uc021wzo.1	-	5	1720	c.1580T>A	c.(1579-1581)aTt>aAt	p.I527N	ERC2_uc003dhr.1_Missense_Mutation_p.I527N|ERC2_uc003dht.1_5'UTR	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	527						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)		CATGTCACGAATTTCACCGGC	0.403000														18			11		0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62734131	62734131	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:62734131G>A	uc001dah.4	-	4	2436	c.2059C>T	c.(2059-2061)Cca>Tca	p.P687S	KANK4_uc001dai.4_Missense_Mutation_p.P59S|KANK4_uc001dag.4_Missense_Mutation_p.P43S	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	687								p.P687Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AAGTCCTCTGGGGTGCTGTCC	0.567000														14			27		0	0	1	0	0
PRKCH	5583	broad.mit.edu	37	14	61912445	61912445	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:61912445G>A	uc001xfn.3	+	4	918	c.613_splice	c.e4+1	p.V205_splice	PRKCH_uc010tsa.2_Splice_Site_p.V44_splice	NM_006255	NP_006246	P24723	KPCL_HUMAN	Homo sapiens protein kinase C, eta (PRKCH), mRNA.	205					intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGTGCCAAGGTAAGGAAACA	0.343000														95			51		0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31013747	31013747	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:31013747G>A	uc003tbx.3	+	6	793	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	GHRHR_uc003tby.3_Missense_Mutation_p.G185S|GHRHR_uc003tbz.3_Intron	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	249					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GGTTCTCGCTGGCTGGGGTGA	0.617000														34			26		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475020	140475020	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140475020G>A	uc003lil.3	+	0	784	c.646G>A	c.(646-648)Gcg>Acg	p.A216T	PCDHB2_uc003lim.1_5'UTR	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	216	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AACCCTCACAGCGCTAGATGG	0.532000														15			14		0	0	1	0	0
FAM105B	90268	broad.mit.edu	37	5	14681618	14681618	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:14681618C>T	uc003jfk.3	+	3	522	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C		NM_138348	NP_612357	Q96BN8	F105B_HUMAN	Homo sapiens family with sequence similarity 105, member B (FAM105B), mRNA.	124								p.R124S(2)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	14	Lung NSC(4;0.00696)					ACGGCGAGTCCGTGGTGATAA	0.542000														66			37		0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412038	51412038	+	Missense_Mutation	SNP	G	A	A	rs141762692		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:51412038G>A	uc001nhi.2	-	0	411	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GCCACATAGCGATCACAGGCC	0.468000														51			18		0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681431	30681431	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:30681431G>A	uc003nrg.4	-	3	1021	c.581C>T	c.(580-582)cCa>cTa	p.P194L	MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_Missense_Mutation_p.P66L|MDC1_uc003nrh.1_Missense_Mutation_p.P66L|MDC1_uc003nri.2_Missense_Mutation_p.P194L	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	194	Interaction with the MRN complex.|Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCACCTCTCTGGAACTATCAC	0.413000								Other conserved DNA damage response genes						22			29		0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24775342	24775342	+	Silent	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:24775342A>G	uc003xed.4	+	2	2007	c.1974A>G	c.(1972-1974)aaA>aaG	p.K658K	NEFM_uc011lac.1_Intron|NEFM_uc010lue.3_Silent_p.K282K	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	658	6 X 13 AA approximate tandem repeats of K-S-P-V-[PS]-K-S-P-V-E-E-[KA]-[GAK].|Tail.					neurofilament	protein binding|structural constituent of cytoskeleton	p.P657L(1)|p.P657Q(1)|p.P657P(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTGTGCCGAAATCACCAGTGG	0.502000														99			4		0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145533233	145533234	+	Missense_Mutation	DNP	GG	AA	AA	rs149839114		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:145533233_145533234GG>AA	uc003zbt.4	+	2	489_490	c.319_320GG>AA	c.(319-321)ggc>AAc	p.G107N	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	107						cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.R106C(1)		endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CTTCCTGCGTGGCCAGGAGCAG	0.624000														51			28		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22663086	22663087	+	RNA	DNP	TA	GG	GG	rs1054158	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:22663086_22663087TA>GG	uc021wml.1	+	30		c.2444_2445TA>GG			abParts_uc011aiq.1_Non-coding_Transcript|abParts_uc011aip.2_Non-coding_Transcript|abParts_uc010gto.3_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AGCTGCCACATAAGTTGTCCTT	0.302000														39			7		0	0	1	0	0
ANKRD1	27063	broad.mit.edu	37	10	92678690	92678690	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:92678690G>A	uc001khe.1	-	3	633	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_014391	NP_055206	Q15327	ANKR1_HUMAN	Homo sapiens ankyrin repeat domain 1 (cardiac muscle) (ANKRD1), mRNA.	129					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTATTCTCCAGAGCAGCCTTC	0.368000														54			25		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	121058694	121058694	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:121058694C>T	uc010rzo.2	+	19	6153	c.6153C>T	c.(6151-6153)tcC>tcT	p.S2051S		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	2051	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AAAAGTACTCCTGTAAAATCG	0.458000														61			21		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1081669	1081669	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1081669G>A	uc001lsx.1	+	12	1624	c.1597G>A	c.(1597-1599)Ggc>Agc	p.G533S		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	533	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAACTTCAACGGCCTGGAAGG	0.657000														17			6		0	0	1	0	0
TBC1D29	26083	broad.mit.edu	37	17	28890309	28890309	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:28890309C>T	uc002hfh.3	+	4	1010	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TBC1D29_uc002hfi.3_Non-coding_Transcript	NM_015594	NP_056409	Q9UFV1	TBC29_HUMAN	Homo sapiens TBC1 domain family, member 29 (TBC1D29), mRNA.	107						intracellular	Rab GTPase activator activity			breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				CAGCAGAGGCCCCTCACTCCT	0.587000														17			13		0	0	1	0	0
TTC33	23548	broad.mit.edu	37	5	40716594	40716594	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:40716594G>A	uc003jma.3	-	4	590	c.442C>T	c.(442-444)Cga>Tga	p.R148*	TTC33_uc011cpm.2_Nonsense_Mutation_p.R40*|TTC33_uc010ivg.3_Silent_p.F76F	NM_012382	NP_036514	Q6PID6	TTC33_HUMAN	Homo sapiens tetratricopeptide repeat domain 33 (TTC33), mRNA.	148							binding			NS(1)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TGAAAACTTCGAATTGCCTAG	0.373000														61			32		0	0	1	0	0
PKD1	5310	broad.mit.edu	37	16	2164604	2164604	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:2164604G>A	uc002cos.1	-	10	2629	c.2420C>T	c.(2419-2421)tCc>tTc	p.S807F	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.S807F	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	807	PKD 2.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GTTGTGCCTGGACACGCCATT	0.687000														9			13		0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	G	G	rs138671696	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:62968690A>G	uc002jez.3	-	3		c.641T>C			AMZ2P1_uc002jfa.3_Non-coding_Transcript|AMZ2P1_uc002jfb.3_Non-coding_Transcript|AMZ2P1_uc010del.2_Non-coding_Transcript					Homo sapiens archaelysin family metallopeptidase 2 pseudogene 1 (AMZ2P1), non-coding RNA.																		AAAATTCCACAAGTCTCTTGG	0.373000														112			7		0	0	1	0	0
CDC14A	8556	broad.mit.edu	37	1	100964712	100964712	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:100964712C>T	uc001dtf.2	+	14	2137	c.1649C>T	c.(1648-1650)cCc>cTc	p.P550L	CDC14A_uc010oui.1_Missense_Mutation_p.P492L|CDC14A_uc009wed.1_Missense_Mutation_p.P257L|CDC14A_uc001dtg.4_Missense_Mutation_p.P550L|CDC14A_uc009wee.3_Missense_Mutation_p.P550L	NM_033312	NP_201569	Q9UNH5	CC14A_HUMAN	Homo sapiens CDC14 cell division cycle 14 homolog A (S. cerevisiae) (CDC14A), transcript variant 2, mRNA.	550					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P550F(2)		breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGAACAGCCCCCCAGGCCCC	0.557000														16			22		0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42475504	42475504	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:42475504G>A	uc002igw.2	-	7	4160	c.3941C>T	c.(3940-3942)cCt>cTt	p.P1314L	GPATCH8_uc002igv.2_Missense_Mutation_p.P1236L|GPATCH8_uc010wiz.2_Missense_Mutation_p.P1236L	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN	Homo sapiens G patch domain containing 8 (GPATCH8), transcript variant 1, mRNA.	1314						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		CATCTCCTCAGGGGTGAAGGT	0.562000														64			35		0	0	1	0	0
ITPR1	3708	broad.mit.edu	37	3	4808358	4808358	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:4808358G>A	uc003bqc.3	+	43	5994	c.5644G>A	c.(5644-5646)Gat>Aat	p.D1882N	ITPR1_uc021wsi.1_Missense_Mutation_p.D1849N|ITPR1_uc021wsj.1_Missense_Mutation_p.D1834N|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1897					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AAAGAAAGACGATGAGGTAGA	0.438000														30			12		0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122650289	122650289	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:122650289C>T	uc001pyi.4	+	3	847	c.487C>T	c.(487-489)Ccc>Tcc	p.P163S		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	163						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GGCCCCGCTGCCCCTGGAGCT	0.577000														51			23		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001830	177001830	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:177001830G>A	uc001glc.3	-	2	839	c.627C>T	c.(625-627)atC>atT	p.I209I	ASTN1_uc001glb.1_Silent_p.I209I|ASTN1_uc001gld.1_Silent_p.I209I|ASTN1_uc009wwx.1_Silent_p.I209I|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	209					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CGTGCCCGCCGATCAGCACAG	0.652000														26			31		0	0	1	0	0
STIM1	6786	broad.mit.edu	37	11	4104571	4104571	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:4104571C>T	uc021qco.1	+	9	1885	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	STIM1_uc001lyv.2_Silent_p.F439F|STIM1_uc009yef.2_Silent_p.F439F|STIM1_uc009yeg.2_Silent_p.F266F	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	439					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding	p.G438A(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		TCTGTGGCTTCCAGATTGTCA	0.577000														43			20		0	0	1	0	0
C19orf6	91304	broad.mit.edu	37	19	1014471	1014471	+	Splice_Site	SNP	G	A	A	rs36113929		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:1014471G>A	uc002lqr.1	-	2	372	c.226_splice	c.e2-1	p.A76_splice	C19orf6_uc002lqs.1_Splice_Site_p.A76_splice	NM_001033026	NP_001028198	Q4ZIN3	MBRL_HUMAN	Homo sapiens chromosome 19 open reading frame 6 (C19orf6), transcript variant 1, mRNA.	76						cytoplasm|integral to membrane				breast(1)|cervix(1)|endometrium(3)|lung(2)|ovary(1)|pancreas(2)|skin(1)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.0252)|STAD - Stomach adenocarcinoma(1328;0.18)		CACAAACAGGGCCTAGGGGGC	0.687000														23			15		0	0	1	0	0
HNRNPL	3191	broad.mit.edu	37	19	39308216	39308216	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:39308216C>T	uc002oji.3	-	4	435	c.350_splice	c.e4-1	p.G117_splice	HNRNPL_uc010xuk.1_Intron|HNRNPL_uc002ojj.1_Intron|HNRNPL_uc010ege.1_Intron	NM_001398	NP_001389	P14866	HNRPL_HUMAN	Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA.	0	RRM 1.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			AGGTCAATACCTGGTGAGAAG	0.567000														9			9		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104167	168104167	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:168104167G>T	uc002udx.3	+	8	6354	c.6265G>T	c.(6265-6267)Gtt>Ttt	p.V2089F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.V1914F|XIRP2_uc010fpq.3_Missense_Mutation_p.V1867F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1914					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AACTGTGTCAGTTAAGAATAA	0.398000														24			20		2.39187e-15	2.44852e-15	1	1	0
CDH9	1007	broad.mit.edu	37	5	26902715	26902715	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:26902715C>T	uc003jgs.1	-	6	1292	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	375	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E375E(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCTATATCTTCCACAGATATT	0.413000														47			19		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140208483	140208483	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140208483G>A	uc003lho.2	+	0	834	c.807G>A	c.(805-807)cgG>cgA	p.R269R	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_uc003lhn.2_Silent_p.R269R|PCDHAC2_uc011dab.2_Silent_p.R269R	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	284	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGATCGGGATGAAGGAG	0.398000														127			42		0	0	1	0	0
MAP3K15	389840	broad.mit.edu	37	X	19443774	19443774	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:19443774C>T	uc022btq.1	-	8	1314	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	MAP3K15_uc004czj.2_5'UTR|MAP3K15_uc004czk.2_5'UTR	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	438							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TCTCCAAGCTCCCTTTTCTTC	0.443000														19			10		0	0	1	0	0
RDH12	145226	broad.mit.edu	37	14	68191250	68191250	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:68191250G>A	uc001xjz.4	+	3	453	c.129G>A	c.(127-129)gtG>gtA	p.V43V		NM_152443	NP_689656	Q96NR8	RDH12_HUMAN	Homo sapiens retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (RDH12), mRNA.	43					photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	AGGTAGTGGTGATCACTGGCG	0.542000														65			24		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	A	A	rs77484671		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:145367767G>A	uc021oul.1	+	82	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3455								p.E3455K(10)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423000														35			6		0	0	1	0	0
GUCA1C	9626	broad.mit.edu	37	3	108672495	108672495	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:108672495C>T	uc003dxj.2	-	0	183	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	GUCA1C_uc003dxk.2_Missense_Mutation_p.E39K	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	39	EF-hand 1.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						GTCTTAAATTCATGTAGTGTT	0.388000														74			35		0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172750341	172750341	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:172750341C>T	uc003mco.1	-	2	1697	c.387G>A	c.(385-387)agG>agA	p.R129R	STC2_uc003mcn.1_Silent_p.R44R	NM_003714	NP_003705	O76061	STC2_HUMAN	Homo sapiens stanniocalcin 2 (STC2), mRNA.	129					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACACCATTTCCCTGATGGCCG	0.572000														20			11		0	0	1	0	0
POR	5447	broad.mit.edu	37	7	75583414	75583414	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:75583414C>T	uc003udy.3	+	1	186	c.104C>T	c.(103-105)tCg>tTg	p.S35L		NM_000941	NP_000932	P16435	NCPR_HUMAN	Homo sapiens P450 (cytochrome) oxidoreductase (POR), mRNA.	32					cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	NADPH-hemoprotein reductase activity|iron ion binding			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	ATTCTGTTTTCGCTCATCGTG	0.502000														18			4		0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128199886	128199886	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:128199886G>A	uc003ekm.3	-	6	1854	c.1419C>T	c.(1417-1419)tcC>tcT	p.S473S	GATA2_uc003ekn.3_Silent_p.S459S|GATA2_uc003eko.2_Silent_p.S473S	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	473					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCACCATGCTGGACGGGTGGG	0.667000			Mis		AML(CML blast transformation)									28			6		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140938325	140938325	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:140938325C>T	uc004cog.3	+	20	3531	c.3386C>T	c.(3385-3387)tCc>tTc	p.S1129F	CACNA1B_uc022bqn.1_Missense_Mutation_p.S1129F|CACNA1B_uc011mfd.2_Missense_Mutation_p.S730F|CACNA1B_uc004coi.3_Missense_Mutation_p.S339F	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1129					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCATACAGCTCCATGTTCTGT	0.592000														157			71		0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53262348	53262348	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:53262348G>A	uc003dgo.3	-	10	1595	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	TKT_uc003dgp.2_Missense_Mutation_p.P107S|TKT_uc011beo.1_Missense_Mutation_p.P428S|TKT_uc003dgq.3_Missense_Mutation_p.P475S|TKT_uc011beq.2_Missense_Mutation_p.P483S|TKT_uc011ber.2_Missense_Mutation_p.P277S	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	475					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GCATTTTCTGGGCGGCTGGTC	0.542000														55			30		0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451188	55451188	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:55451188G>A	uc002qih.4	-	3	1075	c.999C>T	c.(997-999)ttC>ttT	p.F333F	NLRP7_uc010esk.3_Silent_p.F333F|NLRP7_uc002qig.4_Silent_p.F333F|NLRP7_uc002qii.4_Silent_p.F333F|NLRP7_uc010esl.3_Silent_p.F361F	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	333	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGTGTCTCAGGAAATAGGCCC	0.647000														29			12		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41018442	41018442	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:41018442C>T	uc003jmj.4	-	27	3253	c.2763_splice	c.e27+1	p.E921_splice	HEATR7B2_uc003jmi.4_Splice_Site_p.E476_splice	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	921							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGATTACTTACCTCAATATCA	0.428000														7			5		0	0	1	0	0
TAF7	6879	broad.mit.edu	37	5	140699265	140699265	+	Missense_Mutation	SNP	G	A	A	rs36050119		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140699265G>A	uc003ljg.3	-	0	1087	c.347C>T	c.(346-348)cCt>cTt	p.P116L		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	116					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGCTTTAGGATCAGTGCT	0.423000														53			19		0	0	1	0	0
C21orf59	56683	broad.mit.edu	37	21	33949112	33949112	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:33949112G>A	uc002ypw.4	-	4	736	c.620C>T	c.(619-621)cCc>cTc	p.P207L		NM_144659	NP_653260	P57076	CU059_HUMAN	Homo sapiens t-complex 10 (mouse)-like (TCP10L), mRNA.	0						cytosol|nucleus				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						CTCTGCACAGGGAGTTGGCCT	0.488000														39			18		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76391391	76391391	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:76391391G>A	uc021rkq.1	+	11	2376	c.2041G>A	c.(2041-2043)Gaa>Aaa	p.E681K	LMO7_uc010thv.2_Missense_Mutation_p.E399K|LMO7_uc001vjt.1_Missense_Mutation_p.E347K|LMO7_uc001vjv.3_Missense_Mutation_p.E448K|LMO7_uc010thw.2_Missense_Mutation_p.E298K|LMO7_uc001vjw.1_Missense_Mutation_p.E354K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	733						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAATTAAAAGAACAAGATCA	0.393000														61			31		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40406061	40406061	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:40406061C>T	uc002omp.4	-	10	4794	c.4786_splice	c.e10-1	p.P1596_splice		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1596	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCTGCTCCGGCTGTGGGGAGA	0.617000														8			4		0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51523988	51523988	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:51523988A>G	uc003pah.1	-	60	11212	c.10936T>C	c.(10936-10938)Tca>Cca	p.S3646P		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3646					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCCCTATGTGAGTTCATTTCC	0.428000														115			7		0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143715241	143715241	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:143715241G>A	uc010fnm.3	+	7	755	c.539G>A	c.(538-540)gGa>gAa	p.G180E	KYNU_uc002tvk.3_Missense_Mutation_p.G180E|KYNU_uc002tvl.3_Missense_Mutation_p.G180E	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	180					NAD biosynthetic process|anthranilate metabolic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	CAACTTCACGGACTTAACATT	0.308000														18			6		0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605201	140605201	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140605201C>T	uc003ljb.3	+	0	2124	c.2124C>T	c.(2122-2124)ttC>ttT	p.F708F		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	708					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTCCTGTTCGTGGCGGTGC	0.701000														88			61		0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	86001186	86001186	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:86001186C>T	uc001kcz.1	-	0	32	c.10G>A	c.(10-12)Gca>Aca	p.A4T	LRIT1_uc001kda.1_Non-coding_Transcript	NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	4						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						ATGCCTAATGCCACCCTCATG	0.672000														11			7		0	0	1	0	0
C20orf132	140699	broad.mit.edu	37	20	35742482	35742482	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:35742482G>A	uc010zvu.2	-	20	2693	c.2602C>T	c.(2602-2604)Cca>Tca	p.P868S	C20orf132_uc002xgk.3_Missense_Mutation_p.P500S	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	0										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TTCTTATCTGGGTTTTTTACA	0.463000														36			15		0	0	1	0	0
APOC4	346	broad.mit.edu	37	19	45448481	45448481	+	RNA	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:45448481C>T	uc002pah.3	+	2		c.343C>T				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)		AGGCCTGGTTCCTCGAATCCA	0.572000														171			98		0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102747982	102747982	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:102747982C>T	uc001ksf.2	+	0	690	c.15C>T	c.(13-15)ctC>ctT	p.L5L	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Silent_p.L5L|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	5					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGGTCCTCCTCCGAAGTGGGT	0.582000														54			31		0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78219056	78219056	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:78219056G>A	uc002jyb.2	+	11	1403	c.1097_splice	c.e11+1	p.R366_splice	SLC26A11_uc002jyc.2_Splice_Site_p.R366_splice|SLC26A11_uc002jyd.2_Splice_Site_p.R366_splice|SLC26A11_uc010dhv.2_Splice_Site_p.R366_splice	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	366						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCTTTGGACGGTGAGTGACCT	0.627000														33			16		0	0	1	0	0
TCERG1	10915	broad.mit.edu	37	5	145838586	145838586	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:145838586C>T	uc003lob.3	+	3	618	c.578C>T	c.(577-579)gCc>gTc	p.A193V	TCERG1_uc003loc.3_Missense_Mutation_p.A193V|TCERG1_uc011dbt.2_Missense_Mutation_p.A193V	NM_006706	NP_006697	O14776	TCRG1_HUMAN	Homo sapiens transcription elongation regulator 1 (TCERG1), transcript variant 1, mRNA.	193	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			caggctcaggcccaggcgcag	0.657000														41			17		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1279559	1279559	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1279559G>A	uc001lta.3	+	43	16615	c.16556_splice	c.e43-1	p.R5519_splice		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5519					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTTCCTTCCAGGACCTCAGCT	0.637000														18			5		0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858877	105858877	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:105858877G>A	uc002tco.1	+	0	678	c.562G>A	c.(562-564)Gag>Aag	p.E188K		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	188						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGGCTACACGGAGCTCCCCGC	0.682000														20			18		0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3493353	3493353	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:3493353G>A	uc010vro.2	-	4	825	c.792C>T	c.(790-792)atC>atT	p.I264I	TRPV1_uc010vrp.2_Silent_p.I264I|TRPV1_uc010vrq.2_Silent_p.I262I|TRPV1_uc010vrr.2_Silent_p.I264I|TRPV1_uc010vrs.2_Silent_p.I264I|TRPV1_uc010vrt.2_Silent_p.I264I|TRPV1_uc010vru.2_Silent_p.I264I	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	264					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	GGAACTTCACGATGCCCAGCT	0.662000														8			4		0	0	1	0	0
CCDC37	348807	broad.mit.edu	37	3	126135159	126135159	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:126135159G>A	uc010hsg.1	+	4	285	c.226_splice	c.e4-1	p.E76_splice	CCDC37_uc003eiu.1_Splice_Site_p.E76_splice	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	76										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACGCCCCCAGGAACGGCAGCA	0.697000														16			6		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106692132	106692132	+	RNA	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:106692132C>T	uc021ser.1	-	1154		c.24954G>A								Parts of antibodies, mostly variable regions.																		CATGGTGAATCCTCGGTGCTC	0.498000														67			27		0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27816699	27816699	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:27816699T>A	uc002hdz.2	+	8	867	c.673T>A	c.(673-675)Tta>Ata	p.L225I	TAOK1_uc010wbe.2_Missense_Mutation_p.L225I|TAOK1_uc002heb.1_Missense_Mutation_p.L51I	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	225	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GAAGCCTCCTTTATTTAATAT	0.348000														51			20		0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18024936	18024936	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:18024936C>T	uc021trm.1	+	0	3041	c.2822C>T	c.(2821-2823)tCc>tTc	p.S941F	MYO15A_uc021trl.1_Missense_Mutation_p.S941F	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	941	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGCCCACCCTCCCCCTGGCCA	0.701000														11			10		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96012146	96012146	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:96012146G>A	uc001kjk.3	+	8	3804	c.3170G>A	c.(3169-3171)cGa>cAa	p.R1057Q	PLCE1_uc010qnx.2_Missense_Mutation_p.R1057Q|PLCE1_uc001kjm.3_Missense_Mutation_p.R749Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1057					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)				TGGAGTGCTCGAAACCCCAGC	0.502000														44			22		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149247552	149247552	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:149247552C>T	uc002twm.4	+	11	4649	c.3652C>T	c.(3652-3654)Cat>Tat	p.H1218Y	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Missense_Mutation_p.H476Y|MBD5_uc002twp.3_Missense_Mutation_p.H268Y	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1218						chromosome|nucleus	DNA binding|chromatin binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		ATTTTTAGATCATCCAGGCCA	0.498000														70			30		0	0	1	0	0
PIP4K2B	8396	broad.mit.edu	37	17	36935647	36935647	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:36935647A>G	uc002hqs.3	-	4	1124	c.643T>C	c.(643-645)Tat>Cat	p.Y215H	PIP4K2B_uc021twj.1_Missense_Mutation_p.Y215H	NM_003559	NP_003550	P78356	PI42B_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, beta (PIP4K2B), mRNA.	215	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						TTGAGGTCATACTTGCGATGC	0.552000														87			58		0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74282223	74282223	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:74282223C>T	uc004ebz.3	-	13	1903	c.1878G>A	c.(1876-1878)aaG>aaA	p.K626K	ABCB7_uc010nlt.3_Silent_p.K585K|ABCB7_uc004eca.3_Silent_p.K625K|ABCB7_uc011mqn.2_Silent_p.K599K|ABCB7_uc010nls.3_Silent_p.K586K	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	625	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						CTGGGGGGTCCTTCAAAATGG	0.343000														31			12		0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21795958	21795958	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:21795958C>T	uc001wag.3	+	16	2887	c.2887C>T	c.(2887-2889)Cct>Tct	p.P963S	RPGRIP1_uc001wah.3_Missense_Mutation_p.P605S|RPGRIP1_uc001wai.3_Missense_Mutation_p.P289S|RPGRIP1_uc001wak.3_Missense_Mutation_p.P438S|RPGRIP1_uc010aim.3_Missense_Mutation_p.P346S|RPGRIP1_uc001wal.3_Missense_Mutation_p.P322S|RPGRIP1_uc001wam.3_Missense_Mutation_p.P280S	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	963	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GGCTTCATTTCCTTCCCAGGT	0.468000														13			6		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857878	9857878	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:9857878C>T	uc010uym.2	-	13	3833	c.3523G>A	c.(3523-3525)Gaa>Aaa	p.E1175K	GRIN2A_uc002czo.4_Missense_Mutation_p.E1175K|GRIN2A_uc010uyn.2_Missense_Mutation_p.E1018K|GRIN2A_uc002czr.4_Missense_Mutation_p.E1175K	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1175					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.E1175K(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)	AGCCCCTCTTCATTATGCAAG	0.557000														181			86		0	0	1	0	0
TKTL2	84076	broad.mit.edu	37	4	164393849	164393849	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:164393849C>T	uc003iqp.4	-	0	1199	c.1038G>A	c.(1036-1038)acG>acA	p.T346T		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	346						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGGAGTTCATCGTGTCACCAC	0.423000														54			36		0	0	1	0	0
SP110	3431	broad.mit.edu	37	2	231077626	231077626	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:231077626G>A	uc002vqg.3	-	3	673	c.433C>T	c.(433-435)Cct>Tct	p.P145S	SP110_uc002vqh.3_Missense_Mutation_p.P145S|SP110_uc002vqi.4_Missense_Mutation_p.P145S|SP110_uc010fxk.3_Missense_Mutation_p.P145S|SP110_uc021vxx.1_Missense_Mutation_p.P151S	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	145					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTTGGTTGAGGGGGTTGTGGT	0.587000														85			51		0	0	1	0	0
DUSP8	1850	broad.mit.edu	37	11	1579116	1579116	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1579116G>A	uc001lts.2	-	5	857	c.729C>T	c.(727-729)atC>atT	p.I243I	MOB2_uc001ltq.2_Intron	NM_004420	NP_004411	Q13202	DUS8_HUMAN	Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA.	243	Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		GACAGTGGACGATGACTTGGC	0.617000														40			21		0	0	1	0	0
CDADC1	81602	broad.mit.edu	37	13	49852569	49852569	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:49852569C>T	uc001vcu.3	+	6	1261	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	CDADC1_uc021rjm.1_Silent_p.F378F|CDADC1_uc010tgk.2_Silent_p.F180F|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	378							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		ATGCTGACTTCCCACACATGG	0.413000														105			72		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4576243	4576243	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:4576243G>A	uc002fyi.4	-	15	2269	c.2043C>T	c.(2041-2043)ggC>ggT	p.G681G	PELP1_uc010vsf.2_Silent_p.G534G	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	681	Pro-rich.				transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						AAGGCATGGGGCCTGCTGAGG	0.692000														49			27		0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26532936	26532936	+	Missense_Mutation	SNP	T	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:26532936T>G	uc002rhe.4	-	12	3116	c.3116A>C	c.(3115-3117)cAa>cCa	p.Q1039P	GPR113_uc010yky.1_Missense_Mutation_p.Q970P|GPR113_uc002rhb.1_Missense_Mutation_p.Q642P|GPR113_uc010eyk.1_Missense_Mutation_p.Q840P|GPR113_uc002rhc.1_Missense_Mutation_p.Q642P|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	1039					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGGGGCTTGGGCGCGGCA	0.597000														57			26		0	0	1	0	0
GLT6D1	360203	broad.mit.edu	37	9	138518031	138518031	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:138518031C>T	uc010nbd.1	-	3	395	c.141G>A	c.(139-141)acG>acA	p.T47T		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	47					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTCTGTTTTCGTTATAACAT	0.527000														66			29		0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004356	187004356	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:187004356C>T	uc003iyq.3	+	3	1617	c.1516C>T	c.(1516-1518)Cgt>Tgt	p.R506C	TLR3_uc011ckz.2_Missense_Mutation_p.R229C|TLR3_uc003iyr.3_Missense_Mutation_p.R229C	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	506					I-kappaB phosphorylation|MyD88-independent toll-like receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|inflammatory response|innate immune response|negative regulation of osteoclast differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CCAGCCTCTTCGTAACTTGAC	0.453000														71			21		0	0	1	0	0
MEP1A	4224	broad.mit.edu	37	6	46803250	46803250	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:46803250G>A	uc011dwh.1	+	11	2140	c.2132G>A	c.(2131-2133)gGc>gAc	p.G711D	MEP1A_uc010jzh.1_Missense_Mutation_p.G683D|MEP1A_uc011dwg.1_Missense_Mutation_p.G405D|MEP1A_uc011dwi.1_Missense_Mutation_p.G583D	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	683				AVQ -> SAE (in Ref. 1; AAA21338 and 7; no nucleotide entry).	digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAAAATGACGGCATCTGTGTG	0.602000														30			8		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40412019	40412019	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:40412019G>A	uc002omp.4	-	6	3617	c.3609C>T	c.(3607-3609)acC>acT	p.T1203T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1203	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGGGTAGAAGGTCTGGCCTG	0.672000														38			28		0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233497904	233497904	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:233497904G>A	uc001hvt.4	+	4	1678	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	KIAA1804_uc001hvs.1_Missense_Mutation_p.D473N	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	473	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GCGCGAGATCGACGTGCTGGA	0.547000														28			13		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234581226	234581226	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:234581226G>A	uc002vus.3	+	0	683	c.646G>A	c.(646-648)Gaa>Aaa	p.E216K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.E216K	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	219					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	p.A216V(1)		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)	GCACTTGGAGGAACATTTATT	0.448000														137			83		0	0	1	0	0
C10orf28	27291	broad.mit.edu	37	10	99969332	99969334	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:99969332_99969334GA>AT	uc001kox.4	+	4	1811_1813	c.1461_1463GA>AT	c.(1459-1464)ttggac>ttATc	p.D488del	C10orf28_uc001kow.4_Missense_Mutation_p.D488del|C10orf28_uc001koy.4_Missense_Mutation_p.D488del|C10orf28_uc009xvx.3_Missense_Mutation_p.D488del|C10orf28_uc009xvy.3_Intron|C10orf28_uc001koz.4_Intron	NM_014472	NP_055287	Q4KMY3	Q4KMY3_HUMAN	Homo sapiens chromosome 10 open reading frame 28 (C10orf28), mRNA.	488							nucleotide binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)	20		Colorectal(252;0.234)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)		ACACTTTTTTGGACTCTGAACTC	0.394000														40			16		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42059266	42059266	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:42059266G>A	uc010ucy.2	+	23	9167	c.8986G>A	c.(8986-8988)Gta>Ata	p.V2996I	MGA_uc010ucz.2_Missense_Mutation_p.V2787I	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2957						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGTTTAAAAGTAGCTAATCC	0.493000														37			20		0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432779	152432779	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:152432779C>T	uc021vrb.1	-	76	11720	c.11691G>A	c.(11689-11691)caG>caA	p.Q3897Q	NEB_uc002txr.3_Silent_p.Q363Q|NEB_uc002txu.3_Silent_p.Q5598Q|NEB_uc021vrc.1_Silent_p.Q5598Q|NEB_uc010fnx.3_Silent_p.Q3885Q|NEB_uc021vrd.1_Silent_p.Q3897Q	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3897					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	p.A3896V(1)		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)		AAAAGATATTCTGGGCGTTTT	0.483000														50			24		0	0	1	0	0
CRYBA1	1411	broad.mit.edu	37	17	27580694	27580694	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:27580694G>A	uc002hdw.3	+	4	401	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_005208	NP_005199	P05813	CRBA1_HUMAN	Homo sapiens crystallin, beta A1 (CRYBA1), mRNA.	132	Beta/gamma crystallin 'Greek key' 3.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTTTGAGAAGGAAAACTTTAT	0.408000														35			14		0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377267	49377267	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:49377267C>T	uc002pky.4	+	1	1046	c.777C>T	c.(775-777)tcC>tcT	p.S259S		NM_014330	NP_055145	O75807	PR15A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 15A (PPP1R15A), mRNA.	259	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		ACCCCAGGTCCTGGGAGTATC	0.562000														35			22		0	0	1	0	0
LPAL2	80350	broad.mit.edu	37	6	160921913	160921913	+	RNA	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:160921913G>A	uc003qtj.2	-	1		c.226C>T			LPAL2_uc011efy.2_Non-coding_Transcript					Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA.											large_intestine(1)|lung(4)	5		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)		TATGTGCCTCGATAACTCTGT	0.463000														57			67		0	0	1	0	0
RAD50	10111	broad.mit.edu	37	5	131915024	131915024	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:131915024C>T	uc003kxi.3	+	3	782	c.381C>T	c.(379-381)gtC>gtT	p.V127V	RAD50_uc003kxg.1_Silent_p.V28V|RAD50_uc003kxh.3_5'UTR	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	127			V -> I (in dbSNP:rs28903086).		DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGAAAAGGTCAGTCTGAGCT	0.353000								Homologous recombination						18			17		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24921866	24921866	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:24921866G>A	uc001ywo.3	+	0	1326	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	284					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGAATGAAGAGCCACCGCCCA	0.592000														34			18		0	0	1	0	0
MPP1	4354	broad.mit.edu	37	X	154019329	154019329	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:154019329C>A	uc004fmp.2	-	3	494	c.340G>T	c.(340-342)Ggg>Tgg	p.G114W	MPP1_uc011mzv.2_Missense_Mutation_p.G84W|MPP1_uc010nvg.2_Missense_Mutation_p.G114W|MPP1_uc011mzw.2_Missense_Mutation_p.G97W|MPP1_uc010nvh.2_Intron	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	114	PDZ.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCTCATCCCCCACGTGAAGG	0.418000														150			40		1.96642e-18	2.01564e-18	1	1	0
VWA2	340706	broad.mit.edu	37	10	116046208	116046208	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:116046208C>T	uc001lbl.1	+	10	1829	c.1508C>T	c.(1507-1509)cCt>cTt	p.P503L	VWA2_uc001lbk.1_Missense_Mutation_p.P503L|VWA2_uc009xyf.1_Missense_Mutation_p.P199L	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	503	VWFA 2.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		TACTCGGATCCTCAGGATCTG	0.627000														39			20		0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35965875	35965875	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:35965875G>A	uc003jjv.2	-	3	649	c.456C>T	c.(454-456)ttC>ttT	p.F152F	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.F152F|UGT3A1_uc011cor.2_Silent_p.F118F|UGT3A1_uc003jjy.2_Silent_p.F98F	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	152						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAATCAGGAAAGAACAGA	0.398000														40			18		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21456268	21456268	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:21456268C>T	uc002kuq.3	+	38	5095	c.5009C>T	c.(5008-5010)cCt>cTt	p.P1670L	LAMA3_uc002kur.3_Missense_Mutation_p.P1670L|LAMA3_uc002kus.4_Missense_Mutation_p.P61L|LAMA3_uc002kut.4_Missense_Mutation_p.P61L	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1670	Domain III A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTTGTAGCCCTGGATACTAT	0.413000														34			20		0	0	1	0	0
ABAT	18	broad.mit.edu	37	16	8873373	8873373	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:8873373G>A	uc002czc.4	+	14	1473	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	ABAT_uc002czd.4_Missense_Mutation_p.R436Q|ABAT_uc010buh.3_Missense_Mutation_p.R378Q|ABAT_uc010bui.3_Missense_Mutation_p.R436Q|ABAT_uc021tcs.1_5'Flank	NM_020686	NP_065737	P80404	GABT_HUMAN	Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	436					behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	GTGAGAGGACGAGGCACCTTT	0.532000														28			14		0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68382057	68382057	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:68382057C>T	uc022byl.1	-	0	1025	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	PJA1_uc004dxg.3_Missense_Mutation_p.R154Q|PJA1_uc004dxh.3_Missense_Mutation_p.R342Q|PJA1_uc004dxi.3_Missense_Mutation_p.R287Q|PJA1_uc011mpi.2_Missense_Mutation_p.R60Q	NM_001032396	NP_001027568	Q8NG27	PJA1_HUMAN	Homo sapiens praja ring finger 1 (PJA1), transcript variant 2, mRNA.	342	Poly-Arg.						zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						CATGGTGCGTCGTCGTCTCGG	0.527000														26			8		0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:59010865G>A	uc002qtc.2	-	6	1771	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_uc002qtb.3_5'Flank	NM_012254	NP_036386	Q9Y2P5	S27A5_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 5 (SLC27A5), mRNA.	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(2)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000														37			5		0	0	1	0	0
ADAM12	8038	broad.mit.edu	37	10	127760187	127760187	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:127760187C>T	uc001ljk.2	-	11	1604	c.1191G>A	c.(1189-1191)agG>agA	p.R397R	ADAM12_uc010qul.1_Silent_p.R348R|ADAM12_uc001ljm.3_Silent_p.R397R|ADAM12_uc001ljn.3_Silent_p.R394R|ADAM12_uc001ljl.4_Silent_p.R394R	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	397	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCAAGTCCTTCCTGCTGCAAC	0.542000														62			20		0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	70964873	70964873	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:70964873G>A	uc003pfg.4	-	22	1750	c.1591C>T	c.(1591-1593)Cct>Tct	p.P531S	COL9A1_uc003pfe.4_Missense_Mutation_p.P104S|COL9A1_uc003pff.4_Missense_Mutation_p.P288S	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	531	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTGGGCCCAGGGAGACCAGGA	0.433000														101			95		0	0	1	0	0
RPL32P3	132241	broad.mit.edu	37	3	129116038	129116038	+	RNA	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:129116038C>T	uc003eme.1	-	0		c.760G>A			RPL32P3_uc003ema.3_Intron|RPL32P3_uc003emb.3_Intron|RPL32P3_uc003emd.1_Intron					Homo sapiens ribosomal protein L32 pseudogene 3 (RPL32P3), non-coding RNA.											lung(1)	1						GAGGCTTTCCCGCCCAGGGAC	0.567000														79			5		0	0	1	0	0
EXOSC4	54512	broad.mit.edu	37	8	145135312	145135313	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:145135312_145135313CC>TT	uc003zau.3	+	2	656_657	c.546_547CC>TT	c.(544-549)ggcccc>ggTTcc	p.P183S	GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.3_5'Flank	NM_019037	NP_061910	Q9NPD3	EXOS4_HUMAN	Homo sapiens exosome component 4 (EXOSC4), mRNA.	183					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCTGGTGGCCCCCAGCTGGC	0.658000														46			24		0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37746649	37746649	+	Silent	SNP	G	A	A	rs138810329		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:37746649G>A	uc004aag.1	+	15	4664	c.4620G>A	c.(4618-4620)tcG>tcA	p.S1540S	FRMPD1_uc004aah.1_Silent_p.S1540S	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	1540						cytoskeleton|cytosol|plasma membrane		p.K1539T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTGCTAAATCGACCTGCGAGA	0.607000														138			62		0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65214141	65214141	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:65214141C>T	uc002aoa.3	+	3	318	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	ANKDD1A_uc002anx.1_Silent_p.L93L|ANKDD1A_uc002any.3_Silent_p.L6L|ANKDD1A_uc002anz.3_Silent_p.L6L|ANKDD1A_uc002aob.3_Intron|ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Silent_p.L6L	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	97					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						TGCGCTTCTCCTGTCTGCCTG	0.557000														20			11		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9062027	9062027	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9062027G>A	uc002mkp.3	-	2	25623	c.25419C>T	c.(25417-25419)atC>atT	p.I8473I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8475	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						CTTCAGTAGAGATGTCTGGTG	0.502000														115			57		0	0	1	0	0
NLRP12	91662	broad.mit.edu	37	19	54313481	54313481	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:54313481C>T	uc002qcj.4	-	2	1652	c.1432G>A	c.(1432-1434)Gag>Aag	p.E478K	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.E478K|NLRP12_uc002qci.4_Missense_Mutation_p.E478K|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.E478K	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	478	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGGTCCTGCTCCTCAAATAGG	0.587000														70			38		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6512044	6512044	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:6512044C>T	uc001amy.3	+	9	2381	c.2213C>T	c.(2212-2214)gCt>gTt	p.A738V	ESPN_uc001amz.3_Missense_Mutation_p.A172V	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	738					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GACGTGGAGGCTCTCATCCCC	0.662000														4			5		0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112769	81112769	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:81112769C>T	uc001szg.2	+	2	842	c.707C>T	c.(706-708)aCc>aTc	p.T236I		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	236					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.T236N(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTGCCAGCACCGATTCACAG	0.507000														29			57		0	0	1	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1642939	1642939	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1642939C>T	uc009ycy.1	-	1	367	c.280G>A	c.(280-282)Gga>Aga	p.G94R	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	189	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCACAGCCTCCTTTGGAGCCC	0.652000														116			69		0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111991257	111991257	+	Silent	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:111991257T>A	uc001ebb.3	-	1	324	c.285A>T	c.(283-285)ctA>ctT	p.L95L	WDR77_uc010owe.2_Silent_p.L95L|WDR77_uc021orq.1_Silent_p.L95L|ATP5F1_uc009wgf.1_5'Flank|ATP5F1_uc001ebc.3_5'Flank	NM_024102	NP_077007	Q9BQA1	MEP50_HUMAN	Homo sapiens WD repeat domain 77 (WDR77), mRNA.	95					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		CGGAGGCCACTAGAATACCTC	0.597000														20			25		0	0	1	0	0
ASTN1	460	broad.mit.edu	37	1	177001844	177001844	+	Missense_Mutation	SNP	G	A	A	rs145957941		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:177001844G>A	uc001glc.3	-	2	825	c.613C>T	c.(613-615)Cct>Tct	p.P205S	ASTN1_uc001glb.1_Missense_Mutation_p.P205S|ASTN1_uc001gld.1_Missense_Mutation_p.P205S|ASTN1_uc009wwx.1_Missense_Mutation_p.P205S|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	205					cell migration|neuron cell-cell adhesion	integral to membrane		p.P205S(2)|p.P205P(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						AGCACAGAAGGAATGTAGTGA	0.632000														44			15		0	0	1	0	0
PIK3R4	30849	broad.mit.edu	37	3	130427306	130427306	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:130427306G>A	uc003enj.3	-	9	2943	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L		NM_014602	NP_055417	Q99570	PI3R4_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 4 (PIK3R4), mRNA.	788					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						TTCAGTGCCAGAAGTTTGTCT	0.348000														42			24		0	0	1	0	0
CTXN3	613212	broad.mit.edu	37	5	126993252	126993252	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:126993252C>T	uc003kul.4	+	2	613	c.39C>T	c.(37-39)ccC>ccT	p.P13P	CTXN3_uc003kum.4_Silent_p.P13P|CTXN3_uc021yde.1_Silent_p.P13P	NM_001048252	NP_001120857	Q4LDR2	CTXN3_HUMAN	Homo sapiens cortexin 3 (CTXN3), transcript variant 1, mRNA.	13						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0128)|COAD - Colon adenocarcinoma(49;0.0234)|OV - Ovarian serous cystadenocarcinoma(64;0.038)		CCCTAGTGCCCCTTGGGAACG	0.473000														32			22		0	0	1	0	0
SMU1	55234	broad.mit.edu	37	9	33068879	33068879	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:33068879G>A	uc003zsf.1	-	3	552	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SMU1_uc011lnu.1_5'UTR	NM_018225	NP_060695	Q2TAY7	SMU1_HUMAN	Homo sapiens smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans) (SMU1), mRNA.	148						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CGCCAGCTAAGGCCTGGGCAA	0.502000														18			9		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164456	26164456	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:26164456G>A	uc003abz.1	+	3	823	c.573G>A	c.(571-573)aaG>aaA	p.K191K	MYO18B_uc003aca.1_Silent_p.K72K|MYO18B_uc010guy.1_Silent_p.K72K|MYO18B_uc010guz.1_Silent_p.K72K|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	191						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GAAAGGAAAAGAAAGGGGAGA	0.617000														9			4		0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24326280	24326280	+	Splice_Site	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:24326280G>A	uc003xeb.3	+	7	693	c.580_splice	c.e7-1	p.G194_splice		NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	194					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AACTTTACAGGGCATCCATGA	0.313000														25			13		0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91714954	91714954	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:91714954C>T	uc003ulg.3	+	35	9203	c.8978C>T	c.(8977-8979)tCt>tTt	p.S2993F	AKAP9_uc003ulf.3_Missense_Mutation_p.S2985F|AKAP9_uc003uli.3_Missense_Mutation_p.S2616F|AKAP9_uc003ulj.3_Missense_Mutation_p.S763F|AKAP9_uc003ulk.3_Missense_Mutation_p.S268F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2997					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAATCTCATCTCTAAAGGAT	0.353000			T	BRAF	papillary thyroid									11			4		0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176671860	176671860	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:176671860G>A	uc001gkz.3	+	8	4518	c.3354G>A	c.(3352-3354)ggG>ggA	p.G1118G	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1118					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						GTGGAGATGGGAAGGTGTCAG	0.502000														33			16		0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15255128	15255128	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:15255128G>A	uc001iob.3	-	7	2466	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	820						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TCTCCGACTCGACCCCTCCAA	0.647000														34			26		0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767406	88767406	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:88767406A>G	uc021xpx.1	+	3	1491	c.1479A>G	c.(1477-1479)atA>atG	p.I493M	MEPE_uc021xpu.1_Missense_Mutation_p.I462M|MEPE_uc021xpv.1_Missense_Mutation_p.I349M|MEPE_uc021xpw.1_Missense_Mutation_p.I349M|MEPE_uc010ikn.3_Missense_Mutation_p.I349M|MEPE_uc003hqy.3_Missense_Mutation_p.I462M|MEPE_uc021xpy.1_Missense_Mutation_p.I349M	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	462					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		ATGAGAATATAATAACACATG	0.423000														22			19		0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7633762	7633762	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:7633762G>A	uc001qsz.3	-	14	3466	c.3338C>T	c.(3337-3339)tCc>tTc	p.S1113F	CD163_uc001qta.3_Missense_Mutation_p.S1113F|CD163_uc009zfw.2_Missense_Mutation_p.S1146F	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1113					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CAGACCTGAGGAATTCATTAG	0.443000														79			31		0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20766564	20766564	+	Missense_Mutation	SNP	C	T	T	rs143792143		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:20766564C>T	uc001reh.2	+	2	1239	c.1199C>T	c.(1198-1200)tCg>tTg	p.S400L	PDE3A_uc021qwa.1_Missense_Mutation_p.S78L	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	400					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.S400L(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCCGTCACTTCGCTCAGTGAA	0.488000														43			48		0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22969243	22969243	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:22969243C>T	uc001yus.3	+	21	2573	c.2469C>T	c.(2467-2469)gcC>gcT	p.A823A	CYFIP1_uc001yut.3_Silent_p.A823A|CYFIP1_uc010aya.1_Silent_p.A851A|CYFIP1_uc001yuu.3_Silent_p.A392A|CYFIP1_uc001yuv.3_Silent_p.A17A	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	823					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding	p.A823T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCTTCGACGCCATGTTCCGGG	0.597000														63			21		0	0	1	0	0
SERP1	27230	broad.mit.edu	37	3	150263527	150263528	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:150263527_150263528CC>TT	uc003exy.3	-	1	1164_1165	c.122_123GG>AA	c.(121-123)tgg>tAA	p.W41*	SERP1_uc003exz.3_Non-coding_Transcript|EIF2A_uc003eya.3_5'Flank|EIF2A_uc003eyb.3_5'Flank|EIF2A_uc003eyc.3_5'Flank|EIF2A_uc011bnv.2_5'Flank|EIF2A_uc011bnw.2_5'Flank	NM_014445	NP_055260	Q9Y6X1	SERP1_HUMAN	Homo sapiens stress-associated endoplasmic reticulum protein 1 (SERP1), mRNA.	41					plasma membrane organization|protein glycosylation|protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane|ribosome				large_intestine(1)|lung(3)	4			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GAGCCAATAACCAGGGTCCTAC	0.520000														6			4		0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129112	152129112	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:152129112C>T	uc001ezs.1	-	2	528	c.463G>A	c.(463-465)Gat>Aat	p.D155N		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	155	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGGTGGGAATCTCTGTCTTGT	0.517000														265			134		0	0	1	0	0
KCNV2	169522	broad.mit.edu	37	9	2718272	2718272	+	Missense_Mutation	SNP	C	T	T	rs144949136		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:2718272C>T	uc003zho.2	+	0	747	c.533C>T	c.(532-534)cCg>cTg	p.P178L		NM_133497	NP_598004	Q8TDN2	KCNV2_HUMAN	Homo sapiens potassium channel, subfamily V, member 2 (KCNV2), mRNA.	178						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GGGCTGTGTCCGCGCCGCTTC	0.652000														10			6		0	0	1	0	0
RIF1	55183	broad.mit.edu	37	2	152322315	152322315	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:152322315C>T	uc002txm.3	+	29	6442	c.6281C>T	c.(6280-6282)tCt>tTt	p.S2094F	RIF1_uc002txn.3_Missense_Mutation_p.S2094F|RIF1_uc002txl.3_Missense_Mutation_p.S2094F|RIF1_uc002txo.3_Missense_Mutation_p.S2094F|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2094	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TATAGTAAATCTGAAGAAAAA	0.348000														27			20		0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1996982	1996982	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:1996982G>A	uc002cnh.3	-	5	853	c.806C>T	c.(805-807)gCc>gTc	p.A269V	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	269					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CTTCTGCCCGGCCCGAGCAAT	0.667000														70			36		0	0	1	0	0
PLIN1	5346	broad.mit.edu	37	15	90213254	90213254	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:90213254C>T	uc010upx.1	-	4	665	c.555G>A	c.(553-555)gaG>gaA	p.E185E	PLIN1_uc002boh.2_Silent_p.E185E	NM_001145311	NP_002657	O60240	PLIN1_HUMAN	Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA.	185					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						CCACCACCTTCTCAATGCTGC	0.612000														9			5		0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33698385	33698385	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:33698385C>T	uc010edh.3	+	6	2310	c.2217C>T	c.(2215-2217)ccC>ccT	p.P739P	LRP3_uc002nuk.4_Silent_p.P613P	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	739					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CCCTGGGCCCCCACTCGCCAG	0.697000														10			4		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196825468	196825468	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:196825468A>G	uc002utj.4	-	17	2508	c.2407T>C	c.(2407-2409)Tac>Cac	p.Y803H		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	803	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTCTCCAGTAATTTCCAATA	0.368000														101			48		0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52486840	52486840	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:52486840G>A	uc001wzo.3	-	12	2965	c.2731C>T	c.(2731-2733)Cct>Tct	p.P911S	NID2_uc010tqs.2_Missense_Mutation_p.P863S|NID2_uc010tqt.1_Missense_Mutation_p.P911S|NID2_uc001wzp.3_Missense_Mutation_p.P911S	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	911	EGF-like 5; calcium-binding (Potential).					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGGAACCAGGAGTATTGTAG	0.458000														50			25		0	0	1	0	0
CDH1	999	broad.mit.edu	37	16	68849478	68849478	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:68849478C>T	uc002ewg.1	+	9	1505	c.1381C>T	c.(1381-1383)Cct>Tct	p.P461S	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Missense_Mutation_p.P400S	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	461	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.G441_E463del(2)|p.V460L(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAATGTGGTACCTTTTGAGGT	0.483000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer					40			22		0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40078671	40078671	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:40078671G>A	uc001rmc.3	+	9	1456	c.1289G>A	c.(1288-1290)gGa>gAa	p.G430E	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	430										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATCCTTAGGGGAAATATACCT	0.368000														40			8		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1842561	1842561	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:1842561A>C	uc003wpr.3	+	12	1441	c.1263A>C	c.(1261-1263)caA>caC	p.Q421H	ARHGEF10_uc003wpq.1_Missense_Mutation_p.Q446H|ARHGEF10_uc003wps.3_Missense_Mutation_p.Q383H|ARHGEF10_uc003wpt.3_Missense_Mutation_p.Q297H|ARHGEF10_uc003wpv.3_Missense_Mutation_p.Q154H|ARHGEF10_uc010lre.3_Missense_Mutation_p.Q101H	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	446	DH.				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TGTCTTAGCAATATGAGAAGC	0.498000														30			16		0	0	1	0	0
TM9SF4	9777	broad.mit.edu	37	20	30738490	30738490	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:30738490C>T	uc002wxj.2	+	10	1388	c.1153C>T	c.(1153-1155)Ctc>Ttc	p.L385F	TM9SF4_uc010zts.1_Missense_Mutation_p.L292F|TM9SF4_uc002wxk.2_Missense_Mutation_p.L368F	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	385						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCCTGCTTCCTCTTCATGTT	0.627000														172			8		0	0	1	0	0
MIP	4284	broad.mit.edu	37	12	56848172	56848172	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:56848172G>A	uc001slh.3	-	0	264	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F		NM_012064	NP_036196	P30301	MIP_HUMAN	Homo sapiens major intrinsic protein of lens fiber (MIP), mRNA.	76					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						GAGCCCACAAGGAAAGCAAAA	0.602000														39			39		0	0	1	0	0
GABRQ	55879	broad.mit.edu	37	X	151821244	151821244	+	Missense_Mutation	SNP	C	T	T	rs138966264		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:151821244C>T	uc004ffp.1	+	8	1419	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	467						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					CTATGGTGTTCGCTTTAATGG	0.562000														103			55		0	0	1	0	0
FAM41C	284593	broad.mit.edu	37	1	809846	809846	+	RNA	SNP	A	G	G	rs117421153	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:809846A>G	uc001abt.4	-	1		c.747T>C								Homo sapiens family with sequence similarity 41, member C (FAM41C), non-coding RNA.																		GCTGCATTTTAAAGCACTTTT	0.453000														14			3		0	0	1	0	0
GPR26	2849	broad.mit.edu	37	10	125426527	125426527	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:125426527C>T	uc001lhh.3	+	0	657	c.604C>T	c.(604-606)Cat>Tat	p.H202Y		NM_153442	NP_703143	Q8NDV2	GPR26_HUMAN	Homo sapiens G protein-coupled receptor 26 (GPR26), mRNA.	202					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.H202D(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GGCCCGCTTCCATTGCAAGCG	0.627000														9			3		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83636148	83636148	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:83636148G>A	uc010vns.2	+	8	1455	c.1191G>A	c.(1189-1191)acG>acA	p.T397T	CDH13_uc002fgx.3_Silent_p.T350T|CDH13_uc010vnt.2_Silent_p.T96T|CDH13_uc010vnu.2_Silent_p.T311T	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	350	Cadherin 3.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		CCACAGCCACGATCATGATCG	0.463000														131			82		0	0	1	0	0
PDCD1	5133	broad.mit.edu	37	2	242793446	242793446	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:242793446C>T	uc002wcq.4	-	4	699	c.631G>A	c.(631-633)Gag>Aag	p.E211K	PDCD1_uc010fzs.3_Missense_Mutation_p.E90K|PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	211					T cell costimulation|apoptosis|humoral immune response|multicellular organismal development	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GAGGGGTCCTCCTTCTTTGAG	0.657000														29			13		0	0	1	0	0
FAM133A	286499	broad.mit.edu	37	X	92964704	92964704	+	Missense_Mutation	SNP	A	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:92964704A>C	uc022bzw.1	+	2	723	c.286A>C	c.(286-288)Aag>Cag	p.K96Q	FAM133A_uc022bzu.1_Missense_Mutation_p.K96Q|FAM133A_uc004efr.2_Missense_Mutation_p.K96Q|FAM133A_uc022bzv.1_Missense_Mutation_p.K96Q|FAM133A_uc022bzx.1_Missense_Mutation_p.K96Q	NM_001171111	NP_775969	Q8N9E0	F133A_HUMAN	Homo sapiens family with sequence similarity 133, member A (FAM133A), transcript variant 4, mRNA.	96	Lys-rich.|Ser-rich.							p.K96N(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						aagaaagaaaaagagaaagaa	0.323000														10			3		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121929956	121929956	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:121929956G>A	uc004bkc.2	-	7	2148	c.1692C>T	c.(1690-1692)gtC>gtT	p.V564V		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	564					cell cycle arrest|cell death	cytoplasm	protein binding	p.Y563F(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						TAAAGGGGTTGACATAGACAA	0.557000														15			19		0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163361167	163361167	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:163361167C>T	uc002uch.2	-	6	1143	c.914_splice	c.e6-1	p.G305_splice	KCNH7_uc002uci.3_Splice_Site_p.G298_splice	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	305					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	ATTAAAAGGCCCTAAAAAAAT	0.368000														19			11		0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685473	248685473	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:248685473C>T	uc001ien.1	+	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACACTGGATCATATTTTCTG	0.532000														28			23		0	0	1	0	0
RAG2	5897	broad.mit.edu	37	11	36614241	36614241	+	Missense_Mutation	SNP	C	T	T	rs2037101		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:36614241C>T	uc021qge.1	-	0	1478	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.R493K|RAG2_uc021qgd.1_Missense_Mutation_p.R493K|RAG2_uc001mwv.4_Missense_Mutation_p.R493K|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	493					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGGTAGGACTCTTTGGGGAGT	0.438000									Familial Hemophagocytic Lymphohistiocytosis					45			23		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21233283	21233283	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:21233283C>T	uc002red.3	-	25	6585	c.6457G>A	c.(6457-6459)Gaa>Aaa	p.E2153K		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2153	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)	ATATCATTTTCTGTAATTCTA	0.308000														4			5		0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8229273	8229273	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:8229273G>A	uc003gkv.4	+	11	1953	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	SH3TC1_uc003gkw.4_Missense_Mutation_p.E542K|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	618							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAAGAACCGGGAGAAGTGTGC	0.657000														71			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059063	9059063	+	Silent	SNP	G	A	A	rs147088301	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9059063G>A	uc002mkp.3	-	2	28587	c.28383C>T	c.(28381-28383)gtC>gtT	p.V9461V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9463	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						AAGTGACAGGGACAGGAGAGG	0.463000														64			38		0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520922	175520922	+	Silent	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:175520922T>A	uc003fit.3	+	13	2406	c.2319T>A	c.(2317-2319)atT>atA	p.I773I		NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	773					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGAACAGCATTAATTCAGCTC	0.413000														24			9		0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967420	81967420	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:81967420C>T	uc003hmg.4	+	1	1165	c.845C>T	c.(844-846)tCc>tTc	p.S282F		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	282					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCTGCCCTTTCCATTGAGCGG	0.507000														36			13		0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106456604	106456604	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:106456604G>A	uc003ymd.3	+	2	319	c.296G>A	c.(295-297)gGa>gAa	p.G99E		NM_012082	NP_036214	Q8WW38	FOG2_HUMAN	Homo sapiens zinc finger protein, multitype 2 (ZFPM2), mRNA.	99					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GACTGGGATGGACCAGGTAGG	0.428000														8			7		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62475374	62475374	+	Silent	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:62475374A>G	uc003xuj.3	-	17	1635	c.1366T>C	c.(1366-1368)Tta>Cta	p.L456L	ASPH_uc011leg.2_Silent_p.L427L|ASPH_uc003xuo.2_Silent_p.L437L	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	456					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	p.S455F(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCATTTTTTAAGGAAGTATCA	0.363000														30			18		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51918540	51918540	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:51918540C>T	uc002pwo.3	-	6	1447	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	SIGLEC10_uc002pwp.3_Missense_Mutation_p.V351I|SIGLEC10_uc021uyl.1_Missense_Mutation_p.V326I|SIGLEC10_uc002pwq.3_Missense_Mutation_p.V351I|SIGLEC10_uc010ycz.2_Missense_Mutation_p.V361I|SIGLEC10_uc002pws.2_Missense_Mutation_p.V261I|SIGLEC10_uc002pwr.3_Missense_Mutation_p.V409I|SIGLEC10_uc010ycy.2_Missense_Mutation_p.V319I|SIGLEC10_uc010eow.3_Missense_Mutation_p.V221I|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	409	Ig-like C2-type 3.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding	p.G408W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGCTCCAGGACCCCGGGGTCT	0.667000														60			18		0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71628238	71628238	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:71628238C>T	uc003hfr.3	+	1	776	c.181C>T	c.(181-183)Cct>Tct	p.P61S	RUFY3_uc003hfp.4_Missense_Mutation_p.P121S|RUFY3_uc003hfq.3_Missense_Mutation_p.P61S|RUFY3_uc011cax.2_Missense_Mutation_p.P79S|RUFY3_uc011cay.2_5'UTR	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	61					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GGCTGCAGATCCTAATTATCT	0.423000														237			25		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55144091	55144091	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:55144091G>A	uc002qgj.3	+	6	1178	c.838G>A	c.(838-840)Gcc>Acc	p.A280T	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.A280T|LILRB1_uc002qgk.3_Missense_Mutation_p.A280T|LILRB1_uc002qgm.3_Missense_Mutation_p.A280T|LILRB1_uc010erq.3_Missense_Mutation_p.A280T|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	280	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.Q279K(1)|p.A280A(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCTCTCCCAGGCCAACTTCAC	0.627000										HNSCC(37;0.09)				56			30		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620128	179620128	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:179620128G>A	uc010pnp.2	+	11	2445	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_uc021pfm.1_Missense_Mutation_p.E643K|TDRD5_uc001gnf.2_Missense_Mutation_p.E643K|TDRD5_uc021pfn.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.2_Missense_Mutation_p.E198K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	643					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413000														58			27		0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55784716	55784716	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:55784716G>A	uc004dup.3	+	10	1716	c.1065G>A	c.(1063-1065)agG>agA	p.R355R	RRAGB_uc004duq.3_Silent_p.R327R	NM_016656	NP_057740	Q5VZM2	RRAGB_HUMAN	Homo sapiens Ras-related GTP binding B (RRAGB), transcript variant RAGBl, mRNA.	355					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GCAATGCCAGGAAACACTTTG	0.443000														17			6		0	0	1	0	0
COL11A2	1302	broad.mit.edu	37	6	33144996	33144996	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:33144996G>A	uc003ocx.1	-	23	2206	c.1978C>T	c.(1978-1980)Ccc>Tcc	p.P660S	COL11A2_uc010jul.1_Silent_p.F39F|COL11A2_uc003ocy.1_Missense_Mutation_p.P574S|COL11A2_uc003ocz.1_Missense_Mutation_p.P553S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	660	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGGGGCCCGGGAAGACCCTAC	0.557000														97			5		0	0	1	0	0
C15orf2	23742	broad.mit.edu	37	15	24924230	24924230	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:24924230G>A	uc001ywo.3	+	0	3690	c.3216G>A	c.(3214-3216)ggG>ggA	p.G1072G		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1072					cell differentiation|multicellular organismal development|spermatogenesis			p.G1072E(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CACCACAAGGGGCTAGCAACA	0.542000														50			27		0	0	1	0	0
ITGAD	3681	broad.mit.edu	37	16	31434740	31434740	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:31434740G>A	uc010cap.1	+	24	2979	c.2930G>A	c.(2929-2931)gGg>gAg	p.G977E	ITGAD_uc002ebv.1_Missense_Mutation_p.G976E	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	976					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						CTGCTGAACGGGGTGGCTGTG	0.537000														60			21		0	0	1	0	0
TRPC5	7224	broad.mit.edu	37	X	111155629	111155629	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:111155629C>T	uc004epl.1	-	2	1709	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	TRPC5_uc004epm.1_Missense_Mutation_p.E264K	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	264					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	p.E264K(2)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						ATCTCCAGTTCCCTGGAGCTC	0.522000														119			51		0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183189970	183189970	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:183189970G>A	uc001gqa.2	+	4	828	c.514G>A	c.(514-516)Ggt>Agt	p.G172S	LAMC2_uc001gpz.4_Missense_Mutation_p.G172S|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	172	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GTGTCGATCAGGTTACTATAA	0.443000														26			14		0	0	1	0	0
NYX	60506	broad.mit.edu	37	X	41333814	41333814	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:41333814G>A	uc004dfh.2	+	1	1538	c.1108G>A	c.(1108-1110)Ggc>Agc	p.G370S	NYX_uc011mku.1_Missense_Mutation_p.G370S	NM_022567	NP_072089	Q9GZU5	NYX_HUMAN	Homo sapiens nyctalopin (NYX), mRNA.	370	LRRCT.		G -> V (in CSNB1A).		response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		p.A369A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTCCGTGGCCGGCCTGGACCT	0.711000														10			6		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71015453	71015453	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:71015453G>A	uc002ezr.3	-	28	4499	c.4348C>T	c.(4348-4350)Caa>Taa	p.Q1450*		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1451										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)				ACCTGCTCTTGATGTGAACTG	0.408000														59			22		0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23191727	23191727	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:23191727G>A	uc003svs.4	+	6	1128	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	KLHL7_uc003svr.4_Missense_Mutation_p.E257K|KLHL7_uc011jys.2_Missense_Mutation_p.E203K|KLHL7_uc011jyt.2_Missense_Mutation_p.E54K|KLHL7_uc003svt.3_Missense_Mutation_p.E231K|KLHL7_uc011jyv.2_Missense_Mutation_p.E54K	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	279						Golgi apparatus|nucleolus|plasma membrane		p.E257K(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGACCGAGAAGAACTTGTAGA	0.433000														29			13		0	0	1	0	0
SOX30	11063	broad.mit.edu	37	5	157078279	157078279	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:157078279C>T	uc003lxb.1	-	0	1150	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	SOX30_uc003lxc.1_Missense_Mutation_p.G270R|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	270					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCCGGGCCCCAGGGGGGACC	0.602000														60			29		0	0	1	0	0
LCE3A	353142	broad.mit.edu	37	1	152595494	152595494	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:152595494G>A	uc010pdt.2	-	0	86	c.86C>T	c.(85-87)tCc>tTc	p.S29F		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	29					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACAGCTGGAGGAAGCTGGAGG	0.652000														33			25		0	0	1	0	0
CXXC1	30827	broad.mit.edu	37	18	47812544	47812544	+	Missense_Mutation	SNP	G	A	A	rs141867524		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:47812544G>A	uc002leq.4	-	3	1040	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CXXC1_uc002lep.4_5'UTR|CXXC1_uc002ler.4_Missense_Mutation_p.R103W|CXXC1_uc010doy.3_Missense_Mutation_p.R103W	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	103					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding	p.R103L(1)		autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTCATCCCGGGGCTCACTG	0.642000														117			65		0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766856	77766856	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:77766856C>T	uc003yau.2	+	9	8086	c.7699C>T	c.(7699-7701)Cac>Tac	p.H2567Y	ZFHX4_uc003yaw.1_Missense_Mutation_p.H2522Y	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2522						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)			CAGTTCCTCCCACACCACAGC	0.498000										HNSCC(33;0.089)				44			21		0	0	1	0	0
ZFR2	23217	broad.mit.edu	37	19	3823269	3823270	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:3823269_3823270GG>AA	uc002lyw.2	-	7	1357_1358	c.1345_1346CC>TT	c.(1345-1347)ccg>TTg	p.P449L	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	449						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CGGGCCCACCGGCTGCGCATCA	0.619000														105			27		0	0	1	0	0
CHGB	1114	broad.mit.edu	37	20	5903508	5903508	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:5903508G>A	uc002wmg.3	+	3	1024	c.718G>A	c.(718-720)Gga>Aga	p.G240R	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	240						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						CCAGGAGAGTGGAGAGGAGAC	0.532000														20			11		0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7880488	7880488	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:7880488C>T	uc003mxu.4	+	6	1632	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	485					BMP signaling pathway|SMAD protein signal transduction|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					AAGCTAAATGCCATCTCGGTT	0.438000														189			79		0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70332442	70332442	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:70332442C>T	uc001jok.4	+	1	852	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	116					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						AGGCGACTCTCCCAACCCCCA	0.453000														46			14		0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252991	37252991	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:37252991G>A	uc022abv.1	-	11	1613	c.903C>T	c.(901-903)acC>acT	p.T301T	ELMO1_uc011kbc.2_Silent_p.T205T|ELMO1_uc003tfk.2_Silent_p.T301T|ELMO1_uc010kxg.2_Silent_p.T301T	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	301					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGAGGTTAAAGGTGAGCACTT	0.498000														36			15		0	0	1	0	0
RAB3D	9545	broad.mit.edu	37	19	11446427	11446427	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:11446427G>A	uc002mqx.3	-	2	522	c.261C>T	c.(259-261)atC>atT	p.I87I		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	87					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AGGCCGTGGTGATGGTGCGGT	0.597000														109			55		0	0	1	0	0
LRGUK	136332	broad.mit.edu	37	7	133824223	133824223	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:133824223G>A	uc003vrm.1	+	2	456	c.440G>A	c.(439-441)gGa>gAa	p.G147E		NM_144648	NP_653249	Q96M69	LRGUK_HUMAN	Homo sapiens leucine-rich repeats and guanylate kinase domain containing (LRGUK), mRNA.	147							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						ATTCTCTGTGGATATGTTCAT	0.323000														13			8		0	0	1	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120528	12120529	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:12120528_12120529CC>TT	uc003nac.3	+	3	679_680	c.500_501CC>TT	c.(499-501)tcc>tTT	p.S167F	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	167					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GACTCAAGTTCCTTGTCAAGTA	0.470000														203			37		0	0	1	0	0
FPGS	2356	broad.mit.edu	37	9	130569553	130569553	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:130569553C>T	uc004bsg.1	+	5	617	c.567C>T	c.(565-567)ttC>ttT	p.F189F	FPGS_uc004bsh.1_Silent_p.F6F|FPGS_uc011mal.1_Intron|FPGS_uc004bsi.1_Silent_p.F139F	NM_004957	NP_004948	Q05932	FOLC_HUMAN	Homo sapiens folylpolyglutamate synthase (FPGS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TCCACGTCTTCCTCCAAGAGA	0.627000														85			56		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137872796	137872796	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:137872796G>A	uc002tva.1	+	3	1209	c.1209G>A	c.(1207-1209)ggG>ggA	p.G403G	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.G293G	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)		GTGGCGGTGGGATCCAGACCC	0.602000														17			13		0	0	1	0	0
ZNF667	63934	broad.mit.edu	37	19	56953625	56953625	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:56953625G>A	uc002qne.3	-	6	1530	c.739C>T	c.(739-741)Cat>Tat	p.H247Y	ZNF667_uc010etl.3_Missense_Mutation_p.H29Y|ZNF667_uc002qnd.3_Missense_Mutation_p.H247Y|ZNF667_uc010etm.3_Missense_Mutation_p.H190Y	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CCAACAACATGAATTTTCTGA	0.373000														65			25		0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497800	28497800	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:28497800G>A	uc002dpo.3	-	7	868	c.545C>T	c.(544-546)tCc>tTc	p.S182F	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.S104F|CLN3_uc002dpm.3_Missense_Mutation_p.S128F|CLN3_uc010vcu.2_Missense_Mutation_p.S82F|CLN3_uc010vcv.2_Missense_Mutation_p.S158F|CLN3_uc002dpp.3_Missense_Mutation_p.S182F|CLN3_uc021tfs.1_Intron|CLN3_uc002dpt.1_Missense_Mutation_p.S82F|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Missense_Mutation_p.S182F|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Missense_Mutation_p.S128F|CLN3_uc002dqa.2_Missense_Mutation_p.S233F|CLN3_uc010vcx.1_Missense_Mutation_p.S82F|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_Non-coding_Transcript	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	182					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GGACCACCAGGAGATCACGGC	0.657000														12			11		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021760	16021760	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:16021760C>T	uc010lsu.3	-	5	749	c.685_splice	c.e5-1	p.E229_splice	MSR1_uc003wwz.3_Splice_Site_p.E211_splice|MSR1_uc003wxa.3_Splice_Site_p.E211_splice|MSR1_uc003wxb.3_Splice_Site_p.E211_splice|MSR1_uc011kxz.2_Splice_Site	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	211					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTACTGATTTCCTGTAAAACA	0.328000														13			11		0	0	1	0	0
C11orf10	746	broad.mit.edu	37	11	61557337	61557337	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:61557337G>A	uc001nsf.3	-	2	225	c.170C>T	c.(169-171)tCc>tTc	p.S57F	FEN1_uc001nsg.3_5'Flank	NM_014206	NP_055021	P61165	CK010_HUMAN	Homo sapiens chromosome 11 open reading frame 10 (C11orf10), mRNA.	57						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(1)	6						GGCCACTAAGGAGATGAGGAG	0.527000														14			7		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66099995	66099995	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:66099995G>A	uc001ohn.1	-	9	2231	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C	RIN1_uc010roy.1_Missense_Mutation_p.R333C|RIN1_uc009yrd.1_Missense_Mutation_p.R395C|RIN1_uc010roz.1_Missense_Mutation_p.R597C|RIN1_uc010rpa.1_Missense_Mutation_p.R536C	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	702	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCCGCCCGGCGGTAGACGAGG	0.672000														121			72		0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220285619	220285619	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:220285619G>A	uc002vll.3	+	4	1053	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	323	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGATGATGGAATACCGACA	0.602000														14			6		0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94006392	94006393	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:94006392_94006393CC>TT	uc011cdt.2	+	2	749_750	c.491_492CC>TT	c.(490-492)gcc>gTT	p.A164V	GRID2_uc010ikx.3_Missense_Mutation_p.A164V|GRID2_uc011cdu.2_Intron|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	164					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ACAGAGTATGCCTGGCAGAAAT	0.391000														67			22		0	0	1	0	0
RPL7L1	285855	broad.mit.edu	37	6	42848633	42848633	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:42848633C>T	uc003osq.1	+	1	54	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L	RPL7L1_uc011dux.1_Silent_p.L17L|RPL7L1_uc010jxw.1_Intron|RPL7L1_uc003osr.1_5'UTR|RPL7L1_uc011duy.1_Silent_p.L17L|RPL7L1_uc003ost.3_Silent_p.L17L|RPL7L1_uc003oss.2_Intron	NM_198486	NP_940888	Q6DKI1	RL7L_HUMAN	Homo sapiens ribosomal protein L7-like 1 (RPL7L1), mRNA.	17					translation	large ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6	Colorectal(47;0.196)		Colorectal(64;0.00237)|all cancers(41;0.00288)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.088)			AGAAAATCTCCTGAAAAAGAG	0.453000														65			17		0	0	1	0	0
SEZ6L	23544	broad.mit.edu	37	22	26690285	26690285	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:26690285C>T	uc003acb.3	+	2	1059	c.863C>T	c.(862-864)cCt>cTt	p.P288L	SEZ6L_uc003acd.3_Missense_Mutation_p.P288L|SEZ6L_uc011akd.2_Missense_Mutation_p.P288L|SEZ6L_uc003ace.3_Missense_Mutation_p.P288L|SEZ6L_uc011akc.2_Missense_Mutation_p.P288L|SEZ6L_uc003acc.3_Missense_Mutation_p.P288L|SEZ6L_uc003acf.1_Missense_Mutation_p.P61L|SEZ6L_uc010gvc.1_Missense_Mutation_p.P61L	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	288	CUB 1.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						TTCTCCAATCCTGAGGGGTAC	0.517000														141			37		0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77475254	77475254	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:77475254C>T	uc002lnh.2	+	7	1941	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	CTDP1_uc002lni.2_Silent_p.V598V|CTDP1_uc010drd.2_Silent_p.V598V|CTDP1_uc021ult.1_Silent_p.V479V	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	598					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity	p.L597L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		AGATCCTGGTCCGTGTACACA	0.587000														10			3		0	0	1	0	0
POU2F2	5452	broad.mit.edu	37	19	42599998	42599998	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:42599998C>T	uc002osp.3	-	8	809	c.747G>A	c.(745-747)ctG>ctA	p.L249L	POU2F2_uc002osn.3_Silent_p.L233L|POU2F2_uc002osq.3_Silent_p.L233L|POU2F2_uc002osr.2_Silent_p.L249L	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN	Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.	249	POU-specific.				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				TCTTGAAGCTCAGGTTGAGGG	0.637000														69			35		0	0	1	0	0
AK310441	0	broad.mit.edu	37	1	148890226	148890226	+	RNA	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:148890226C>A	uc009wkv.1	+	7		c.807C>A								Homo sapiens cDNA, FLJ17483.																		TGGATCTTCACTTGTAGCACA	0.284000														58			4		0.00909568	0.00915451	1	1	0
LRRC30	339291	broad.mit.edu	37	18	7231409	7231409	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:7231409G>A	uc010wzk.2	+	0	273	c.273G>A	c.(271-273)ggG>ggA	p.G91G		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	91										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						CCGAGGTGGGGAAACTGACCC	0.577000														30			10		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53238457	53238457	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:53238457G>A	uc001sbc.1	-	4	871	c.807C>T	c.(805-807)tcC>tcT	p.S269S		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	269	Linker 12.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTTGTCCATGGACAGCACCA	0.637000														69			10		0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139164537	139164537	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:139164537G>A	uc003yuy.3	-	12	2352	c.2181C>T	c.(2179-2181)tcC>tcT	p.S727S	FAM135B_uc003yux.3_Silent_p.S628S|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.S289S|FAM135B_uc003yvb.3_Silent_p.S289S	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	727										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CACCCTCTAGGGAGTTCCGGT	0.567000										HNSCC(54;0.14)				26			7		0	0	1	0	0
FBP1	2203	broad.mit.edu	37	9	97380116	97380116	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:97380116G>A	uc004auw.4	-	2	691	c.360C>T	c.(358-360)ccC>ccT	p.P120P	FBP1_uc010mrl.3_Silent_p.P120P	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	120					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATCCATCAAGGGGATCAAAAC	0.388000														27			9		0	0	1	0	0
CLCC1	23155	broad.mit.edu	37	1	109477459	109477459	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:109477459C>T	uc021ora.1	-	9	1500	c.1489G>A	c.(1489-1491)Gtc>Atc	p.V497I	AKNAD1_uc010ovb.2_Intron|CLCC1_uc001dwg.1_Missense_Mutation_p.V447I|CLCC1_uc001dwf.1_Missense_Mutation_p.V497I|CLCC1_uc009wes.1_Missense_Mutation_p.V376I|CLCC1_uc009wet.1_Missense_Mutation_p.V312I	NM_001048210	NP_001041675	Q96S66	CLCC1_HUMAN	Homo sapiens chloride channel CLIC-like 1 (CLCC1), transcript variant 1, mRNA.	497						Golgi apparatus|endoplasmic reticulum|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		TGGCCAGAGACAGGCTTGGCC	0.562000														28			49		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107323675	107323675	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:107323675G>A	uc003vep.3	+	6	1018	c.794G>A	c.(793-795)gGt>gAt	p.G265D		NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	265					regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CAAAATATTGGTGATACCAAT	0.398000									Pendred syndrome					32			23		0	0	1	0	0
RRP9	9136	broad.mit.edu	37	3	51967526	51967526	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:51967526G>A	uc003dbw.1	-	14	1463	c.1424C>T	c.(1423-1425)tCc>tTc	p.S475F		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	475					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		AGAGTGTCAGGAACCAGCAGC	0.522000														25			19		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3200887	3200887	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:3200887G>A	uc022aqr.1	-	22	3950	c.3560C>T	c.(3559-3561)tCc>tTc	p.S1187F	CSMD1_uc011kwj.2_Missense_Mutation_p.S580F|CSMD1_uc003wqe.3_Missense_Mutation_p.S344F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1188	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)		CAGGTGATTGGATGTGCTGTT	0.433000														37			14		0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42058882	42058882	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:42058882C>T	uc010ucy.2	+	23	8783	c.8602C>T	c.(8602-8604)Cct>Tct	p.P2868S	MGA_uc010ucz.2_Missense_Mutation_p.P2659S	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2829						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAGTAAGGTTCCTCCTGGAAG	0.498000														74			45		0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39770350	39770350	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:39770350C>T	uc003axq.4	+	1	191	c.129C>T	c.(127-129)atC>atT	p.I43I	TAB1_uc003axo.4_Silent_p.I43I|TAB1_uc003axr.3_5'UTR|TAB1_uc003axs.4_Silent_p.I44I	NM_004711	NP_004702	Q15750	TAB1_HUMAN	Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCGGCTCCATCGTGAACGAGG	0.657000														85			13		0	0	1	0	0
PTCRA	171558	broad.mit.edu	37	6	42883815	42883815	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:42883815G>A	uc021yzp.1	+	0	89	c.8G>A	c.(7-9)gGt>gAt	p.G3D	PTCRA_uc011duz.1_5'UTR|PTCRA_uc010jxx.1_Missense_Mutation_p.G3D|PTCRA_uc010jxy.3_Missense_Mutation_p.G3D|PTCRA_uc003osx.3_Missense_Mutation_p.G3D|PTCRA_uc010jxz.3_Missense_Mutation_p.G3D	NM_001243168	NP_001230097	Q6ISU1	PTCRA_HUMAN	Homo sapiens pre T-cell antigen receptor alpha (PTCRA), transcript variant 1, mRNA.	3						integral to membrane	receptor activity	p.A2A(1)		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)			GCCATGGCCGGTACATGGCTG	0.647000														143			34		0	0	1	0	0
PELP1	27043	broad.mit.edu	37	17	4578480	4578480	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:4578480G>A	uc002fyi.4	-	10	1394	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PELP1_uc010vsf.2_Missense_Mutation_p.R243W	NM_014389	NP_055204	Q8IZL8	PELP1_HUMAN	Homo sapiens proline, glutamate and leucine rich protein 1 (PELP1), mRNA.	390					transcription, DNA-dependent	MLL1 complex|cytoplasm	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CGCAAGAGCCGGCTTCCACAC	0.612000														14			10		0	0	1	0	0
OR51F2	119694	broad.mit.edu	37	11	4842843	4842843	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:4842843C>T	uc010qyn.2	+	0	228	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTACTATTTCCTCTCTATGC	0.458000														106			56		0	0	1	0	0
SLC5A1	6523	broad.mit.edu	37	22	32480537	32480537	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:32480537G>A	uc003amc.3	+	7	1026	c.776G>A	c.(775-777)aGg>aAg	p.R259K	SLC5A1_uc011alz.2_Missense_Mutation_p.R132K	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	259					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						TACACTCCAAGGGCCGACTCC	0.522000														45			6		0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30954222	30954222	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:30954222C>T	uc021vfn.1	-	19	2003	c.1971G>A	c.(1969-1971)ctG>ctA	p.L657L	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Silent_p.L653L	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	657	EF-hand 2.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CCATTTCTGTCAGGTAGAGTC	0.537000														20			4		0	0	1	0	0
CD151	977	broad.mit.edu	37	11	837513	837513	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:837513C>T	uc001lry.3	+	6	654	c.510C>T	c.(508-510)atC>atT	p.I170I	CD151_uc001lrx.3_Non-coding_Transcript|CD151_uc001lrz.3_Silent_p.I170I|CD151_uc001lsa.3_Silent_p.I170I|CD151_uc001lsb.3_Silent_p.I170I	NM_004357	NP_620599	P48509	CD151_HUMAN	Homo sapiens CD151 molecule (Raph blood group) (CD151), transcript variant 1, mRNA.	170					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGAGTGGATCCGCTCACAGG	0.607000														21			12		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149447	41149447	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:41149447C>T	uc003jmk.2	-	16	2729	c.2519G>A	c.(2518-2520)gGc>gAc	p.G840D	C6_uc003jml.1_Missense_Mutation_p.G840D	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	840	C5b-binding domain.|Complement control factor I module 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TAACTGGCGGCCGTCTTGGCA	0.418000														99			56		0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31600667	31600667	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:31600667G>A	uc001rkh.1	-	7	1922	c.1771C>T	c.(1771-1773)Cca>Tca	p.P591S	DENND5B_uc001rki.1_Missense_Mutation_p.P556S|DENND5B_uc001rkj.3_Missense_Mutation_p.P578S	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	556						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GAAAGAAATGGCAGGTAAGGC	0.398000														16			9		0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27799810	27799810	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:27799810G>A	uc002rkz.4	+	0	422	c.371G>A	c.(370-372)aGa>aAa	p.R124K		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	124										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTAATCCCTAGACCAGGGCAT	0.408000														55			29		0	0	1	0	0
CHRNA6	8973	broad.mit.edu	37	8	42608352	42608352	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:42608352C>T	uc003xpj.3	-	5	1811	c.1455G>A	c.(1453-1455)caG>caA	p.Q485Q	CHRNA6_uc011lcw.2_Silent_p.Q470Q	NM_004198	NP_004189	Q15825	ACHA6_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 6 (CHRNA6), transcript variant 1, mRNA.	485						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAAGTAGTGGCTGTAGAAATA	0.378000														112			61		0	0	1	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389580	150389580	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:150389580G>A	uc003who.3	+	2	294	c.206G>A	c.(205-207)gGa>gAa	p.G69E		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	69						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAAGCTGGGGAAATAGAGAG	0.473000														31			7		0	0	1	0	0
PCYOX1L	78991	broad.mit.edu	37	5	148748036	148748036	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:148748036C>T	uc003lqk.2	+	5	1366	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L	PCYOX1L_uc003lql.2_Missense_Mutation_p.P418L|PCYOX1L_uc010jgz.2_Missense_Mutation_p.P359L|PCYOX1L_uc003lqm.2_Missense_Mutation_p.P317L|PCYOX1L_uc003lqn.2_Missense_Mutation_p.P345L	NM_024028	NP_076933	Q8NBM8	PCYXL_HUMAN	Homo sapiens prenylcysteine oxidase 1 like (PCYOX1L), mRNA.	435					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACGCTCCCGAGGTTTGCA	0.607000														46			32		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	5939642	5939642	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:5939642C>T	uc001qnm.2	-	5	859	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	ANO2_uc021qtt.1_Missense_Mutation_p.E267K	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	268						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						GTGTCCTTTTCCTGGATGTTG	0.478000														17			10		0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911952	35911952	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:35911952G>A	uc003olm.3	-	19	2749	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.R462W|SLC26A8_uc003oll.3_Missense_Mutation_p.R775W|SLC26A8_uc003oln.3_Missense_Mutation_p.R880W	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	880	Interaction with RACGAP1.				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.R880L(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						TCCAGCTCCCGATCCAGGTCT	0.572000														69			104		0	0	1	0	0
LHCGR	3973	broad.mit.edu	37	2	48915275	48915275	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:48915275C>T	uc002rwu.4	-	10	1731	c.1661G>A	c.(1660-1662)cGa>cAa	p.R554Q	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	554					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	p.R554*(2)		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)	TTCTGGGTTTCGAACTGCAAA	0.368000														64			23		0	0	1	0	0
TSHZ1	10194	broad.mit.edu	37	18	72999558	72999558	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:72999558C>T	uc002lly.3	+	1	2624	c.2061C>T	c.(2059-2061)atC>atT	p.I687I	TSHZ1_uc021uln.1_Silent_p.I687I	NM_005786	NP_005777	Q6ZSZ6	TSH1_HUMAN	Homo sapiens teashirt zinc finger homeobox 1 (TSHZ1), mRNA.	732						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACCTGGGGATCATCATGGACC	0.572000														20			11		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	23101710	23101710	+	Splice_Site	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:23101710C>T	uc021wml.1	+	258		c.12420_splice	c.e258+2		abParts_uc021wmm.1_Intron					Parts of antibodies, mostly variable regions.																		CCACAGTGGTCCAAGTTCCTG	0.582000														58			63		0	0	1	0	0
ITIH2	3698	broad.mit.edu	37	10	7765505	7765505	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:7765505C>T	uc001ijs.3	+	8	1121	c.959C>T	c.(958-960)tCc>tTc	p.S320F		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	320	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.G319G(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAGTGGCTCCATGTGGGGA	0.423000														40			24		0	0	1	0	0
LCE5A	254910	broad.mit.edu	37	1	152484240	152484240	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:152484240C>T	uc021oyx.1	+	0	230	c.230C>T	c.(229-231)tCc>tTc	p.S77F	LCE5A_uc001ezy.3_Missense_Mutation_p.S77F|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	77	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCGCCAGTCCCTCCGACGC	0.682000														60			25		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86284490	86284490	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:86284490C>T	uc002blv.1	+	34	7992	c.7822C>T	c.(7822-7824)Cgt>Tgt	p.R2608C	AKAP13_uc002blu.1_Missense_Mutation_p.R2612C|AKAP13_uc002blw.1_Missense_Mutation_p.R1073C|AKAP13_uc002blx.1_Missense_Mutation_p.R853C	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2608	Interaction with ESR1.				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						GTGGGAAGCTCGTGAGAGGGA	0.692000														9			4		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6094773	6094773	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:6094773C>T	uc001qnn.1	-	38	7107	c.6857G>A	c.(6856-6858)gGg>gAg	p.G2286E	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2286	VWFC 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GACCTTCCGCCCGCTGAGGCA	0.622000														26			18		0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220159702	220159702	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:220159702G>A	uc002vkz.3	-	18	2911	c.2670C>T	c.(2668-2670)ttC>ttT	p.F890F	PTPRN_uc010zlc.2_Silent_p.F800F|PTPRN_uc002vla.3_Silent_p.F861F|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	890	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTCACCTGCGGAAGTCCAGCA	0.766000														9			3		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117375330	117375330	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:117375330G>A	uc003vjf.3	-	14	3773	c.3681C>T	c.(3679-3681)ttC>ttT	p.F1227F		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1227										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TACCTTTTTGGAAAGTGCAGG	0.383000														41			13		0	0	1	0	0
LILRB4	11006	broad.mit.edu	37	19	55175434	55175434	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:55175434G>A	uc002qgp.3	+	2	655	c.293G>A	c.(292-294)tGt>tAt	p.C98Y	LILRB4_uc002qgo.1_Missense_Mutation_p.C139Y|LILRB4_uc002qgq.3_Missense_Mutation_p.C98Y|LILRB4_uc010ers.1_Missense_Mutation_p.C11Y|LILRB4_uc010ert.3_Missense_Mutation_p.C139Y|LILRB4_uc010eru.3_Missense_Mutation_p.C127Y	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	98	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGATACCGCTGTTACTATCGC	0.602000														113			68		0	0	1	0	0
TMEM63C	57156	broad.mit.edu	37	14	77703049	77703049	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:77703049G>A	uc001xtf.2	+	8	837	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	TMEM63C_uc010asq.1_Missense_Mutation_p.G209R	NM_020431	NP_065164	Q9P1W3	TM63C_HUMAN	Homo sapiens transmembrane protein 63C (TMEM63C), mRNA.	209						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)		TCACTGCCTGGGGTTTGCACC	0.562000														46			28		0	0	1	0	0
VPRBP	9730	broad.mit.edu	37	3	51475776	51475776	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:51475776G>A	uc003dbe.2	-	7	836	c.651C>T	c.(649-651)gaC>gaT	p.D217D	VPRBP_uc021wys.1_Silent_p.D216D|VPRBP_uc003dbg.2_Silent_p.D217D	NM_014703	NP_055518	Q9Y4B6	VPRBP_HUMAN	Homo sapiens Vpr (HIV-1) binding protein (VPRBP), transcript variant 1, mRNA.	217					interspecies interaction between organisms	cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TGTCACCATAGTCCATATCCA	0.502000														149			68		0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96201713	96201713	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:96201713G>A	uc001kjr.2	+	1	1217	c.1032G>A	c.(1030-1032)tgG>tgA	p.W344*		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	344						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				CTCCTGGTTGGAAATTATTTG	0.363000														32			19		0	0	1	0	0
SEMA6A	57556	broad.mit.edu	37	5	115822613	115822613	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:115822613G>A	uc003krx.4	-	9	1503	c.794C>T	c.(793-795)tCt>tTt	p.S265F	SEMA6A_uc010jck.3_Missense_Mutation_p.S265F	NM_020796	NP_065847	Q9H2E6	SEM6A_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A (SEMA6A), mRNA.	265	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GACTCTTTGAGATCCTCCCAT	0.438000														56			27		0	0	1	0	0
OR51L1	119682	broad.mit.edu	37	11	5020857	5020857	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5020857C>T	uc010qyu.2	+	0	645	c.645C>T	c.(643-645)ttC>ttT	p.F215F		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTCAATCTTCATACTTCTTT	0.413000														37			17		0	0	1	0	0
PROC	5624	broad.mit.edu	37	2	128184767	128184767	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:128184767G>A	uc002tol.3	+	7	855	c.828G>A	c.(826-828)atG>atA	p.M276I	PROC_uc002tok.3_Missense_Mutation_p.M255I|PROC_uc010yzi.2_Missense_Mutation_p.M311I|PROC_uc010yzj.2_Missense_Mutation_p.M150I|PROC_uc010yzk.2_Missense_Mutation_p.M310I	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	255	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCCACTGCATGGATGAGTCCA	0.637000														61			29		0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21402259	21402259	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:21402259C>T	uc002kuq.3	+	19	2434	c.2348C>T	c.(2347-2349)tCc>tTc	p.S783F	LAMA3_uc002kur.3_Missense_Mutation_p.S783F	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	783					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAAGTGGCTCCTTGTTTCGT	0.378000														43			8		0	0	1	0	0
MAP7D3	79649	broad.mit.edu	37	X	135323382	135323382	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:135323382C>T	uc004ezt.3	-	4	693	c.472G>A	c.(472-474)Gat>Aat	p.D158N	MAP7D3_uc004ezs.3_Missense_Mutation_p.D158N|MAP7D3_uc011mwc.2_Missense_Mutation_p.D140N|MAP7D3_uc010nsa.2_Missense_Mutation_p.D157N	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	158						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGCTGATAATCATCAGCAAGT	0.323000														28			10		0	0	1	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439197	14439197	+	RNA	SNP	G	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:14439197G>C	uc002yja.4	+	9		c.2715G>C								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		AAGAAGAAGAGAAGAGAAGAA	0.289000														32			3		0	0	1	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536874	5536874	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:5536874C>T	uc001maz.4	-	0	1083	c.798G>A	c.(796-798)ggG>ggA	p.G266G	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	266										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		GGGCATTATTCCCACCTGGCA	0.458000														48			24		0	0	1	0	0
LEKR1	389170	broad.mit.edu	37	3	156763240	156763240	+	Missense_Mutation	SNP	A	G	G			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:156763240A>G	uc021xgh.1	+	12	1894	c.1780A>G	c.(1780-1782)Agt>Ggt	p.S594G	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	109										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCTTCGTGGAAGTTTACCATT	0.512000														58			22		0	0	1	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072116	34072116	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:34072116G>A	uc002hjv.2	-	5	2428	c.2400C>T	c.(2398-2400)gcC>gcT	p.A800A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	800					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGAAGACATAGGCCAGTGGCC	0.637000														72			60		0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10114253	10114253	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:10114253G>A	uc002mmq.1	-	5	923	c.837C>T	c.(835-837)tcC>tcT	p.S279S		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	279	Nonhelical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGTTCTCTGCGGAGTCAGGAG	0.542000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		68			4		0	0	1	0	0
THRSP	7069	broad.mit.edu	37	11	77775323	77775323	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:77775323G>A	uc021qnu.1	+	0	396	c.396G>A	c.(394-396)caG>caA	p.Q132Q	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Silent_p.Q132Q	NM_003251	NP_003242	Q92748	THRSP_HUMAN	Homo sapiens thyroid hormone responsive (THRSP), mRNA.	132					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			AGAAAGCCCAGGAGGTGACAA	0.547000														17			3		0	0	1	0	0
GREB1	9687	broad.mit.edu	37	2	11716655	11716655	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:11716655G>A	uc002rbk.1	+	4	931	c.631G>A	c.(631-633)Ggc>Agc	p.G211S	GREB1_uc002rbl.3_Missense_Mutation_p.G211S|GREB1_uc002rbm.3_Missense_Mutation_p.G101S|GREB1_uc002rbn.1_Missense_Mutation_p.G211S	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	211						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTGTTGGAAAGGCTCAGGTGA	0.552000														59			30		0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120439309	120439309	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:120439309C>T	uc021vnk.1	+	0	880	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.R294C|TMEM177_uc002tmc.1_Missense_Mutation_p.R294C|TMEM177_uc002tmd.2_Missense_Mutation_p.R294C|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	294						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CTACACCACCCGCCGGGACTC	0.582000														77			37		0	0	1	0	0
ZMYM3	9203	broad.mit.edu	37	X	70465286	70465286	+	Silent	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:70465286C>A	uc004dzh.2	-	17	3089	c.2910G>T	c.(2908-2910)ctG>ctT	p.L970L	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.L970L|ZMYM3_uc004dzj.2_Silent_p.L958L	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	970					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CAGGCCCAAACAGGTCACAGT	0.547000														12			5		0.00198382	0.00199924	1	1	0
PRUNE2	158471	broad.mit.edu	37	9	79320977	79320977	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:79320977C>T	uc010mpk.3	-	7	6337	c.6213G>A	c.(6211-6213)tgG>tgA	p.W2071*	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Nonsense_Mutation_p.W1893*	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2071					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TAGCATCTATCCACAAGTCAG	0.522000														148			22		0	0	1	0	0
CTAGE10P	220429	broad.mit.edu	37	13	50466890	50466890	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr13:50466890C>T	uc001vdk.2	+	0	2346	c.2164C>T	c.(2164-2166)Cct>Tct	p.P722S						Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA.																		CCCTCCACCTCCTCCAGGAAC	0.522000														92			12		0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142561867	142561867	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:142561867G>A	uc003evd.3	-	3	779	c.472C>T	c.(472-474)Ctt>Ttt	p.L158F		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	158	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GGTCTGTCAAGGAGTCCTCCA	0.458000														73			21		0	0	1	0	0
C9orf174	100499483	broad.mit.edu	37	9	100076998	100076998	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:100076998C>T	uc011lut.2	+	20	2242	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	C9orf174_uc004axe.2_Silent_p.S412S|C9orf174_uc011lus.2_Silent_p.S230S|C9orf174_uc004axg.2_Silent_p.S273S|C9orf174_uc010msm.1_Non-coding_Transcript|C9orf174_uc004axf.3_Silent_p.S273S|C9orf174_uc011luv.1_Silent_p.S270S	NM_020893	NP_065944	Q9P1Z9	CI174_HUMAN	Homo sapiens chromosome 9 open reading frame 174 (C9orf174), mRNA.	412						integral to membrane				breast(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(1)	16						TGGAGTTCTCCCGAACCGATA	0.562000														4			11		0	0	1	0	0
ASCL3	56676	broad.mit.edu	37	11	8959517	8959517	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:8959517G>A	uc001mhd.1	-	1	252	c.192C>T	c.(190-192)atC>atT	p.I64I	ASCL3_uc021qdj.1_Silent_p.I64I	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	Homo sapiens achaete-scute complex homolog 3 (Drosophila) (ASCL3), mRNA.	63					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		AATTTCCCAGGATAAGAGAGT	0.567000														43			20		0	0	1	0	0
FRMD5	84978	broad.mit.edu	37	15	44198110	44198110	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:44198110C>T	uc001ztl.3	-	5	644	c.467G>A	c.(466-468)gGc>gAc	p.G156D	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Missense_Mutation_p.G67D|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_5'UTR	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	156	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGAGCTGTAGCCTTCAGGGTG	0.433000														27			27		0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074412	46074412	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:46074412G>A	uc002zfs.1	-	0	165	c.120C>T	c.(118-120)ccC>ccT	p.P40P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	40	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						GAGCCACACAGGGGGCTGAGC	0.697000														22			7		0	0	1	0	0
CRP	1401	broad.mit.edu	37	1	159683618	159683618	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:159683618G>A	uc001ftw.3	-	1	476	c.372C>T	c.(370-372)atC>atT	p.I124I	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	124	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	AGAACTCCACGATCCCTGAGG	0.522000														140			70		0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546617	11546617	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr12:11546617G>T	uc010shk.1	-	2	430	c.395C>A	c.(394-396)cCt>cAt	p.P132H		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			AGGAGGTGGAGGACCTTGAGG	0.607000														727			15		5.03518e-11	5.12745e-11	1	1	0
ASAH1	427	broad.mit.edu	37	8	17920722	17920722	+	Missense_Mutation	SNP	T	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:17920722T>C	uc003wyn.2	-	6	720	c.523A>G	c.(523-525)Aga>Gga	p.R175G	ASAH1_uc003wyl.2_Missense_Mutation_p.R159G|ASAH1_uc003wym.2_Missense_Mutation_p.R134G|ASAH1_uc003wyo.2_Missense_Mutation_p.R153G	NM_004315	NP_004306	Q13510	ASAH1_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.	159					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TCCATGTTTCTCCCATGTATT	0.388000														204			107		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179483200	179483200	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:179483200C>T	uc021vsy.1	-	200	39506	c.39281G>A	c.(39280-39282)cGt>cAt	p.R13094H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R6789H|TTN_uc021vta.1_Missense_Mutation_p.R6722H|TTN_uc021vtb.1_Missense_Mutation_p.R6597H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14021							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)			TTCTAAGTTACGTACTGGCCC	0.393000														26			11		0	0	1	0	0
CROCCP3	114819	broad.mit.edu	37	1	16809841	16809841	+	RNA	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:16809841G>A	uc001ays.2	-	6		c.880C>T			CROCCP3_uc001ayt.2_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 3 (CROCCP3), non-coding RNA.																		CGTCCTCGTGGGCCTGCATGG	0.667000														4			5		0	0	1	0	0
PDS5A	23244	broad.mit.edu	37	4	39876020	39876020	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:39876020G>A	uc003guv.4	-	19	2706	c.2166C>T	c.(2164-2166)ccC>ccT	p.P722P		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	722					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						GATGTAAAATGGGAATTAAGG	0.378000														20			12		0	0	1	0	0
MAP9	79884	broad.mit.edu	37	4	156281378	156281378	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:156281378G>A	uc003ios.3	-	6	1256	c.992C>T	c.(991-993)cCa>cTa	p.P331L	MAP9_uc011cin.2_Missense_Mutation_p.P306L|MAP9_uc010iqa.1_Non-coding_Transcript|MAP9_uc003iot.1_Missense_Mutation_p.P330L	NM_001039580	NP_001034669	Q49MG5	MAP9_HUMAN	Homo sapiens microtubule-associated protein 9 (MAP9), mRNA.	331					cell division|mitosis	cytoplasm|microtubule|spindle				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGATAGTAGTGGATCAACTGT	0.363000														25			11		0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580111	161580111	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:161580111G>A	uc010jjc.3	+	10	1643	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N	GABRG2_uc003lyy.4_Missense_Mutation_p.D389N|GABRG2_uc003lyz.4_Missense_Mutation_p.D381N|GABRG2_uc011dej.2_Missense_Mutation_p.D286N	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	381	Interaction with GABARAP (Potential).				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCCTACCATTGATATCCGCCC	0.483000														47			26		0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21231517	21231517	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:21231517G>A	uc002red.3	-	25	8351	c.8223C>T	c.(8221-8223)ttC>ttT	p.F2741F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2741					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)	GGGGAAGCTGGAATTCTGGTA	0.393000														130			62		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25341653	25341653	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:25341653C>T	uc003xep.1	+	9	1769	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S431F|CDCA2_uc003xeq.1_Missense_Mutation_p.S416F|CDCA2_uc003xer.1_Missense_Mutation_p.S94F	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	431					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GGTCTCAGTTCCCTGCTGCTT	0.448000														68			38		0	0	1	0	0
ARSF	416	broad.mit.edu	37	X	3030235	3030235	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:3030235C>T	uc022brz.1	+	10	1547	c.1411C>T	c.(1411-1413)Cac>Tac	p.H471Y	ARSF_uc004cre.2_Missense_Mutation_p.H471Y|ARSF_uc004crf.2_Missense_Mutation_p.H471Y	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	471						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGAAGGCTCACTATGTGAC	0.507000														59			23		0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76458958	76458958	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:76458958C>T	uc010dhp.2	-	56	9267	c.9142G>A	c.(9142-9144)Ggc>Agc	p.G3048S	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)			TTCATCAGGCCGTTCTCCAGC	0.582000														31			11		0	0	1	0	0
SLC22A17	51310	broad.mit.edu	37	14	23816925	23816926	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:23816925_23816926GG>AA	uc001wjl.3	-	6	1196_1197	c.959_960CC>TT	c.(958-960)gcc>gTT	p.A320V	SLC22A17_uc010akk.3_Missense_Mutation_p.A102V|SLC22A17_uc001wjm.3_Missense_Mutation_p.A320V|SLC22A17_uc001wjn.3_Non-coding_Transcript	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	320					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGTGGCGAATGGCATGGGCAAT	0.629000														70			29		0	0	1	0	0
ZNF646	9726	broad.mit.edu	37	16	31088233	31088233	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:31088233C>T	uc002eap.3	+	1	877	c.588C>T	c.(586-588)gcC>gcT	p.A196A	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Silent_p.A196A	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CTGCCAGAGCCCCTCCTCTCC	0.592000														40			5		0	0	1	0	0
CEACAM20	125931	broad.mit.edu	37	19	45021080	45021080	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:45021080C>T	uc010ejn.1	-	5	1252	c.1236G>A	c.(1234-1236)ggG>ggA	p.G412G	CEACAM20_uc010ejo.1_Silent_p.G412G|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	412	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGTTGTAGATCCCGTCGTGTT	0.597000														8			4		0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31308909	31308909	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:31308909C>T	uc002ebr.3	+	12	1529	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	ITGAM_uc002ebq.3_Silent_p.I477I|ITGAM_uc010cam.1_Missense_Mutation_p.R81W|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	477					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.I477I(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGTCCTCATCGGGGCCCCCC	0.667000														94			63		0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8732089	8732089	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:8732089C>T	uc002glq.1	-	10	1348	c.1108G>A	c.(1108-1110)Ggg>Agg	p.G370R	PIK3R6_uc002glr.1_Non-coding_Transcript|PIK3R6_uc002gls.1_Non-coding_Transcript	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	370					platelet activation	cytosol											TTGATGCCCCCTTTGCGCTGC	0.692000														13			5		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1093885	1093885	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:1093885G>A	uc001lsx.1	+	31	5719	c.5692G>A	c.(5692-5694)Gga>Aga	p.G1898R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1974						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACCACGAGCGGAGGCCACAC	0.632000														48			31		0	0	1	0	0
ALS2	57679	broad.mit.edu	37	2	202633601	202633601	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:202633601G>A	uc002uyo.3	-	1	364	c.8C>T	c.(7-9)tCa>tTa	p.S3L	ALS2_uc002uyp.4_Missense_Mutation_p.S3L|ALS2_uc002uyq.3_Missense_Mutation_p.S3L|ALS2_uc002uyr.3_Missense_Mutation_p.S3L	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	3					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TCTCTTCTTTGAGTCCATCGG	0.368000														30			13		0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1638092	1638092	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:1638092C>T	uc002qxa.3	-	22	4388	c.4324G>A	c.(4324-4326)Ggg>Agg	p.G1442R		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1442	VWFC.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTGACCTGCCCGTCCTGGAGA	0.632000														6			4		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196729107	196729107	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:196729107G>A	uc002utj.4	-	40	7373	c.7272C>T	c.(7270-7272)ctC>ctT	p.L2424L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2424	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTAATGCAAAGAGATTTGGAA	0.423000														31			15		0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304407	3304407	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:3304407G>A	uc002cun.1	-	1	701	c.661C>T	c.(661-663)Ccg>Tcg	p.P221S	MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	221					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TTCTGCCCCGGGGCGCCCCCC	0.706000														34			14		0	0	1	0	0
TECPR1	25851	broad.mit.edu	37	7	97851721	97851721	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:97851721G>A	uc003upg.3	-	21	3246	c.3041C>T	c.(3040-3042)tCc>tTc	p.S1014F		NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	1014						integral to membrane	protein binding	p.R1013Q(1)|p.G1014E(1)		central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGGGTACACGGATCCCCGGTA	0.667000														8			10		0	0	1	0	0
NPEPL1	79716	broad.mit.edu	37	20	57290282	57290282	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:57290282C>T	uc010zzs.1	+	11	1567	c.1472C>T	c.(1471-1473)tCt>tTt	p.S491F	NPEPL1_uc010zzr.2_Missense_Mutation_p.S443F|NPEPL1_uc010gjo.2_Missense_Mutation_p.S463F|NPEPL1_uc002xzp.3_3'UTR	NM_024663	NP_078939	Q8NDH3	PEPL1_HUMAN	Homo sapiens aminopeptidase-like 1 (NPEPL1), transcript variant 1, mRNA.	491					proteolysis	cytoplasm	aminopeptidase activity|manganese ion binding|metalloexopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;2.88e-09)|Colorectal(105;0.109)			GGCCGTGCCTCTGAGGACCCT	0.657000														13			9		0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48192969	48192969	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:48192969G>A	uc002iqf.3	-	6	1080	c.781C>T	c.(781-783)Cct>Tct	p.P261S	SAMD14_uc002iqe.3_Missense_Mutation_p.P44S|SAMD14_uc002iqg.3_Missense_Mutation_p.P261S	NM_174920	NP_777580	Q8IZD0	SAM14_HUMAN	Homo sapiens sterile alpha motif domain containing 14 (SAMD14), mRNA.	261										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						TCGTGTTTAGGGGAGCAGGTG	0.617000														83			44		0	0	1	0	0
GNAI2	2771	broad.mit.edu	37	3	50289961	50289961	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:50289961C>T	uc003cyq.1	+	2	415	c.294C>T	c.(292-294)ccC>ccT	p.P98P	GNAI2_uc003cyo.1_Silent_p.P82P|GNAI2_uc003cyp.1_Silent_p.P82P|GNAI2_uc010hlg.1_Silent_p.P17P|GNAI2_uc011bdn.2_Silent_p.P61P|GNAI2_uc003cyr.1_Silent_p.P17P	NM_002070	NP_002061	P04899	GNAI2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 (GNAI2), transcript variant 1, mRNA.	98					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TTGCCGACCCCTCCAGAGCGG	0.582000														10			5		0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819351	17819351	+	Missense_Mutation	SNP	G	C	C			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:17819351G>C	uc022btm.1	-	0	780	c.780C>G	c.(778-780)ttC>ttG	p.F260L	RAI2_uc004cyf.3_Missense_Mutation_p.F260L|RAI2_uc004cyg.3_Missense_Mutation_p.F260L|RAI2_uc011miy.2_Missense_Mutation_p.F210L|RAI2_uc022btl.1_Missense_Mutation_p.F260L|RAI2_uc004cyh.4_Missense_Mutation_p.F260L|RAI2_uc010nfa.3_Missense_Mutation_p.F260L	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	260					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AACTGGAGCTGAACTTGGATT	0.552000														119			19		0	0	1	0	0
ELK1	2002	broad.mit.edu	37	X	47498365	47498365	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:47498365C>T	uc004dik.4	-	3	905	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	ELK1_uc010nhv.3_Missense_Mutation_p.G195R|ELK1_uc010nhw.3_Missense_Mutation_p.G85R|ELK1_uc004dil.4_Intron	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	195					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CTCCTGCTCCCCGAGGGGGGC	0.632000														3			5		0	0	1	0	0
BCMO1	53630	broad.mit.edu	37	16	81324154	81324154	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:81324154C>T	uc002fgn.1	+	10	1834	c.1616C>T	c.(1615-1617)tCc>tTc	p.S539F	BCMO1_uc010vnp.1_Missense_Mutation_p.S470F	NM_017429	NP_059125	Q9HAY6	BCDO1_HUMAN	Homo sapiens beta-carotene 15,15'-monooxygenase 1 (BCMO1), mRNA.	539					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						GACAGGGCTTCCGACTGCCAC	0.537000														59			7		0	0	1	0	0
ABCA10	10349	broad.mit.edu	37	17	67178853	67178853	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:67178853G>A	uc010dfa.1	-	21	3473	c.2594C>T	c.(2593-2595)tCc>tTc	p.S865F	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.S466F	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	865					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TCCATTGTAGGAGGGATCATC	0.373000														106			59		0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634363	32634363	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:32634363C>T	uc003zrg.1	-	0	1305	c.1215G>A	c.(1213-1215)agG>agA	p.R405R	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	405					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCTCAAGTTTCCTAAATTCCT	0.458000														140			40		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40979308	40979308	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr20:40979308C>A	uc002xkg.3	-	10	2009	c.1825G>T	c.(1825-1827)Gtg>Ttg	p.V609L	PTPRT_uc010ggj.3_Missense_Mutation_p.V609L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	609	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTCAGCATCACTGTGATGGTC	0.542000														149			24		4.72057e-08	4.78827e-08	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39521086	39521086	+	Missense_Mutation	SNP	G	A	A	rs61741661	byFrequency	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:39521086G>A	uc002hwl.3	-	5	1087	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	348	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CACTCCAGCCGCGCCCGCACG	0.632000														81			57		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95791092	95791092	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:95791092G>A	uc001kjk.3	+	1	923	c.289G>A	c.(289-291)Gat>Aat	p.D97N	PLCE1_uc010qnx.2_Missense_Mutation_p.D97N	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	97					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)				AATCATGCCAGATTCTGCGAA	0.388000														44			31		0	0	1	0	0
LIM2	3982	broad.mit.edu	37	19	51890437	51890437	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:51890437C>T	uc002pwl.2	-	1	305	c.261G>A	c.(259-261)tgG>tgA	p.W87*	LIM2_uc002pwm.2_Intron	NM_030657	NP_085915	P55344	LMIP_HUMAN	Homo sapiens lens intrinsic membrane protein 2, 19kDa (LIM2), transcript variant 1, mRNA.	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		gcagagttctccatctggaaT	0.612000														40			10		0	0	1	0	0
VIT	5212	broad.mit.edu	37	2	37041353	37041353	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:37041353C>T	uc002rpl.3	+	15	2233	c.1931C>T	c.(1930-1932)gCc>gTc	p.A644V	VIT_uc002rpm.3_Missense_Mutation_p.A629V|VIT_uc010ezv.3_Missense_Mutation_p.A607V|VIT_uc010ezw.3_Missense_Mutation_p.A608V	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	629	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ATAGGCGTTGCCTGGGCTGCC	0.512000														34			18		0	0	1	0	0
FANCG	2189	broad.mit.edu	37	9	35074205	35074205	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:35074205G>A	uc003zwb.1	-	13	2261	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	VCP_uc003zvy.2_5'Flank|VCP_uc010mkh.1_5'Flank|VCP_uc010mki.1_5'Flank|FANCG_uc010mkj.1_Missense_Mutation_p.P332L	NM_004629	NP_004620	O15287	FANCG_HUMAN	Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA.	590					DNA repair|cell cycle checkpoint|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TAGGTACAGGGGGAGAGACCT	0.507000			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks						60			10		0	0	1	0	0
KATNAL2	83473	broad.mit.edu	37	18	44589437	44589437	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr18:44589437C>T	uc002lco.3	+	5	622	c.428C>T	c.(427-429)cCc>cTc	p.P143L	KATNAL2_uc010dnq.1_Intron	NM_031303	NP_112593	Q8IYT4	KATL2_HUMAN	Homo sapiens katanin p60 subunit A-like 2 (KATNAL2), mRNA.	215						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						AATCCAGACCCCTCAGTAAGT	0.438000														27			9		0	0	1	0	0
C16orf89	146556	broad.mit.edu	37	16	5105333	5105333	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:5105333C>T	uc010bud.3	-	5	1019	c.782G>A	c.(781-783)gGc>gAc	p.G261D	ALG1_uc002cyj.3_Intron|C16orf89_uc002cyk.4_Missense_Mutation_p.G261D	NM_152459	NP_689672	Q6UX73	CP089_HUMAN	Homo sapiens chromosome 16 open reading frame 89 (C16orf89), transcript variant 1, mRNA.	261						extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGAGAAGCCGCCCATTCCACA	0.647000														12			5		0	0	1	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614387	47614387	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:47614387G>A	uc001cqv.1	+	11	1529	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q		NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	493						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCATGGCACGACTTGTGTTG	0.562000														14			32		0	0	1	0	0
TRIM38	10475	broad.mit.edu	37	6	25966938	25966938	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:25966938G>A	uc003nfm.3	+	2	623	c.188G>A	c.(187-189)cGg>cAg	p.R63Q		NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	63					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CCCCAGTGTCGGGCTCCATTT	0.488000														65			23		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61831288	61831288	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:61831288G>A	uc001jky.3	-	36	9689	c.9351C>T	c.(9349-9351)atC>atT	p.I3117I	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3117			I -> V (in dbSNP:rs28932171).		establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCTGACTTATGATTTTTTTTA	0.403000														86			50		0	0	1	0	0
APOBEC3B	9582	broad.mit.edu	37	22	39381856	39381856	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:39381856C>T	uc003awo.1	+	2	268	c.214C>T	c.(214-216)Ctc>Ttc	p.L72F	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.L72F|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	72					negative regulation of transposition		RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					AATGTGCTTCCTCTCTTGGTT	0.587000														151			14		0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412442	77412442	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:77412442G>A	uc001oyn.3	-	5	1952	c.1832C>T	c.(1831-1833)cCa>cTa	p.P611L	RSF1_uc001oym.3_Missense_Mutation_p.P359L	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	611					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGTACTCTTTGGAACTTCTTC	0.428000														82			43		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141738391	141738391	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:141738391C>T	uc003vwy.3	+	18	2346	c.2292C>T	c.(2290-2292)ctC>ctT	p.L764L		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	764	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.L764L(3)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGCCCGGCCTCCTCATCACTC	0.498000														11			4		0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847435	7847435	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:7847435G>A	uc010rbg.2	-	0	85	c.85C>T	c.(85-87)Ctt>Ttt	p.L29F		NM_153445	NP_703146	Q8WZ94	OR5P3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 3 (OR5P3), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGAAACACAAGAAATAAAATA	0.358000														62			23		0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79745903	79745903	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:79745903G>A	uc001jzn.3	-	21	3049	c.2916C>T	c.(2914-2916)ttC>ttT	p.F972F		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	972					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding	p.F972F(2)		breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCCCCTTAATGAATTTTTTTA	0.358000														48			18		0	0	1	0	0
C1orf127	148345	broad.mit.edu	37	1	11015073	11015073	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:11015073G>A	uc010oao.2	-	8	949	c.949C>T	c.(949-951)Ccg>Tcg	p.P317S	C1orf127_uc001ars.2_Missense_Mutation_p.P178S|C1orf127_uc001arr.2_Missense_Mutation_p.P160S	NM_001170754	NP_001164225	B7ZLG7	B7ZLG7_HUMAN	Homo sapiens chromosome 1 open reading frame 127 (C1orf127), mRNA.	168								p.S317S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CCGGCCGCCGGAATGCTGACC	0.557000														23			23		0	0	1	0	0
PKN3	29941	broad.mit.edu	37	9	131476847	131476847	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr9:131476847C>T	uc004bvw.3	+	11	1881	c.1488C>T	c.(1486-1488)ttC>ttT	p.F496F	PKN3_uc010myh.3_Silent_p.F496F|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	496	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						ACAGTAATTTCCTGCCCAAGA	0.582000														68			16		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188444	140188444	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:140188444G>A	uc003lhi.2	+	0	1773	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E558K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E558K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAAAACGACAA	0.667000														78			48		0	0	1	0	0
GPR39	2863	broad.mit.edu	37	2	133174954	133174954	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:133174954C>T	uc002ttl.3	+	0	808	c.339C>T	c.(337-339)ttC>ttT	p.F113F		NM_001508	NP_001499	O43194	GPR39_HUMAN	Homo sapiens G protein-coupled receptor 39 (GPR39), mRNA.	113						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGCACACTTTCCTCTTCGAGG	0.562000														43			24		0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74276060	74276060	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:74276060C>T	uc003hgs.4	+	5	720	c.647C>T	c.(646-648)tCg>tTg	p.S216L	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.S106L	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	216	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	DNA binding|antioxidant activity|chaperone binding|copper ion binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.S216S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	GGGAAGGCTTCGTCTGCCAAA	0.373000														38			9		0	0	1	0	0
NHS	4810	broad.mit.edu	37	X	17744871	17744871	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:17744871C>A	uc011mix.2	+	6	2983	c.2645C>A	c.(2644-2646)cCt>cAt	p.P882H	NHS_uc004cxx.3_Missense_Mutation_p.P861H|NHS_uc004cxy.3_Missense_Mutation_p.P705H|NHS_uc004cxz.3_Missense_Mutation_p.P684H|NHS_uc004cya.3_Missense_Mutation_p.P584H	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	861						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CAGCACCTGCCTCACAGTTCC	0.483000														65			55		8.28887e-21	8.53008e-21	1	1	0
TNFRSF11B	4982	broad.mit.edu	37	8	119945315	119945315	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:119945315G>A	uc003yon.4	-	1	578	c.255C>T	c.(253-255)ccC>ccT	p.P85P	TNFRSF11B_uc010mdc.1_Non-coding_Transcript	NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	85					apoptosis|skeletal system development		cytokine activity|receptor activity	p.P85P(6)		breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CCTTGCACACGGGGCTGCAGT	0.562000														61			29		0	0	1	0	0
CCDC85A	114800	broad.mit.edu	37	2	56611435	56611435	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:56611435C>T	uc002rzn.3	+	5	2109	c.1607C>T	c.(1606-1608)tCg>tTg	p.S536L	CCDC85A_uc021vhw.1_Non-coding_Transcript	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	536										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCTGCAGGTTCGTGTCCTGGA	0.408000														40			29		0	0	1	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175885	143175885	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr7:143175885C>T	uc003wdc.1	+	0	920	c.920C>T	c.(919-921)gCc>gTc	p.A307V	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	307					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					TTCTGGGTGGCCTAGATGGCA	0.517000														25			6		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207527733	207527733	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:207527733C>T	uc002vbr.1	-	10	1644	c.1527G>A	c.(1525-1527)aaG>aaA	p.K509K		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	509						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGCCTCTTTCTTTTCCACGG	0.478000														70			29		0	0	1	0	0
TRUB1	142940	broad.mit.edu	37	10	116734118	116734118	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:116734118G>A	uc001lcd.3	+	6	828	c.767G>A	c.(766-768)aGa>aAa	p.R256K	TRUB1_uc010qsl.2_Missense_Mutation_p.R158K	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	256					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TTTTATATCAGAAGCTTGGTC	0.328000														43			20		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1579804	1579804	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:1579804G>A	uc002fte.3	-	15	2497	c.2383C>T	c.(2383-2385)Ctg>Ttg	p.L795L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	795						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CCAACCTTCAGGTAGTTGTGC	0.582000														130			69		0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242413	18242413	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:18242413G>A	uc001ipo.2	+	1	481	c.208G>A	c.(208-210)Gag>Aag	p.E70K	SLC39A12_uc001ipn.2_Missense_Mutation_p.E70K|SLC39A12_uc001ipp.2_Missense_Mutation_p.E70K|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	70					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.L69M(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						AACATTGTTGGAGAAAACTGG	0.517000														47			17		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27445118	27445118	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:27445118G>A	uc002hdt.1	-	9	2141	c.1983C>T	c.(1981-1983)gcC>gcT	p.A661A	MYO18A_uc010wbc.1_Silent_p.A203A|MYO18A_uc002hds.2_Silent_p.A203A|MYO18A_uc010csa.1_Silent_p.A661A|MYO18A_uc002hdu.1_Silent_p.A661A|MYO18A_uc010wbd.1_Silent_p.A330A	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	661	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGAACCAGCAGGCCTTCTGTT	0.597000														2			3		0	0	1	0	0
GLRA3	8001	broad.mit.edu	37	4	175598335	175598335	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:175598335G>A	uc003ity.1	-	6	1324	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	274					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478000														23			16		0	0	1	0	0
HTR7	3363	broad.mit.edu	37	10	92509171	92509171	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:92509171C>T	uc001kha.3	-	1	963	c.720G>A	c.(718-720)acG>acA	p.T240T	HTR7_uc001kgz.3_Silent_p.T240T|HTR7_uc001khb.3_Silent_p.T240T	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	240					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	TAGAGTAAATCGTATAGCCAA	0.473000														41			22		0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160035579	160035579	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr2:160035579G>A	uc002uag.3	+	13	2689	c.2415G>A	c.(2413-2415)agG>agA	p.R805R	TANC1_uc010fol.1_Silent_p.R699R|TANC1_uc010zcm.2_Silent_p.R797R|TANC1_uc010fom.1_Silent_p.R611R	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	805						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TCATTAAGAGGCGAGACAAAA	0.562000														115			13		0	0	1	0	0
NCOR1	9611	broad.mit.edu	37	17	15989660	15989660	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:15989660G>A	uc002gpo.3	-	22	3382	c.3113C>T	c.(3112-3114)cCg>cTg	p.P1038L	NCOR1_uc002gpn.3_Missense_Mutation_p.P1054L|NCOR1_uc002gpp.1_Missense_Mutation_p.P945L|NCOR1_uc002gpq.1_Missense_Mutation_p.P130L	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	1038	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding	p.P1038R(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTGGATGACGGGATGAGAGG	0.488000														53			31		0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110670740	110670740	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:110670740G>A	uc011cft.2	-	9	1191	c.983C>T	c.(982-984)tCa>tTa	p.S328L	CFI_uc003hzq.3_Missense_Mutation_p.S117L|CFI_uc003hzr.4_Missense_Mutation_p.S320L	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	320					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity	p.S320L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AGGTAATAATGATTTTATCCG	0.358000														23			13		0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127636570	127636570	+	Silent	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr5:127636570C>T	uc003kuu.3	-	47	6544	c.6105G>A	c.(6103-6105)ttG>ttA	p.L2035L		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2035	EGF-like 34; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGATCCCTCCAAATTCTGAC	0.428000														37			23		0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91757385	91757385	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:91757385C>T	uc010aty.3	-	23	4310	c.4156G>A	c.(4156-4158)Gaa>Aaa	p.E1386K		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1386					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				ATGATTTTTTCTTCCAGCTTT	0.333000														3			6		0	0	1	0	0
FAM120B	84498	broad.mit.edu	37	6	170632308	170632308	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:170632308C>T	uc003qxp.3	+	2	1984	c.1876C>T	c.(1876-1878)Cga>Tga	p.R626*	FAM120B_uc003qxo.1_Nonsense_Mutation_p.R626*|FAM120B_uc011ehd.2_Intron	NM_032448	NP_115824	Q96EK7	F120B_HUMAN	Homo sapiens family with sequence similarity 120B (FAM120B), mRNA.	626					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		CCGTCCCATTCGACAGCGGGT	0.483000														15			27		0	0	1	0	0
COLEC10	10584	broad.mit.edu	37	8	120114596	120114596	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:120114596G>T	uc003yoo.3	+	3	399	c.302G>T	c.(301-303)gGg>gTg	p.G101V		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	101	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GGTGACAAAGGGGAAAAAGGT	0.333000														28			15		1.52009e-12	1.55201e-12	1	1	0
CYLC1	1538	broad.mit.edu	37	X	83128270	83128270	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:83128270C>T	uc004eei.1	+	3	575	c.554C>T	c.(553-555)tCc>tTc	p.S185F	CYLC1_uc004eeh.1_Missense_Mutation_p.S184F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	185					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AATCCAGAATCCCAAAATTCT	0.313000														31			6		0	0	1	0	0
ENPP6	133121	broad.mit.edu	37	4	185012385	185012385	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:185012385G>A	uc003iwc.3	-	7	1410	c.1268C>T	c.(1267-1269)cCt>cTt	p.P423L		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	423					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGGCCAGACAGGCGGGGCAGT	0.552000														55			40		0	0	1	0	0
MTFR1	9650	broad.mit.edu	37	8	66617088	66617088	+	Silent	SNP	C	T	T	rs144568946		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr8:66617088C>T	uc011lep.2	+	4	653	c.441C>T	c.(439-441)ctC>ctT	p.L147L	MTFR1_uc003xvm.2_Silent_p.L147L|MTFR1_uc003xvn.2_Silent_p.L114L	NM_001145839	NP_001139311	Q15390	MTFR1_HUMAN	Homo sapiens mitochondrial fission regulator 1 (MTFR1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	147						mitochondrion|plasma membrane		p.A146T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			TTTGCGCTCTCGAAAATGAAC	0.483000														10			4		0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36106769	36106769	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:36106769G>A	uc003ols.3	+	10	1053	c.955G>A	c.(955-957)Gag>Aag	p.E319K	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	319					Ras protein signal transduction|cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						GGAAGAGACGGAGGCCCAGCA	0.602000														50			19		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207737267	207737267	+	Missense_Mutation	SNP	C	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:207737267C>A	uc001hfy.3	+	13	2435	c.2295C>A	c.(2293-2295)aaC>aaA	p.N765K	CR1_uc009xcl.1_Intron|CR1_uc001hfx.3_Missense_Mutation_p.N1215K|CR1_uc021pij.1_Missense_Mutation_p.N765K|CR1_uc009xck.1_Intron	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	765	Sushi 12.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACAAGGACAACTTTTCACCCG	0.552000														52			31		1.22674e-20	1.26077e-20	1	1	0
SMG6	23293	broad.mit.edu	37	17	2202686	2202686	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr17:2202686C>T	uc002fub.1	-	1	1416	c.1361G>A	c.(1360-1362)cGa>cAa	p.R454Q	SMG6_uc002fud.2_Missense_Mutation_p.R423Q	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	454	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCCACAATCGGCGTGTGGT	0.537000														207			19		0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114014634	114014634	+	Missense_Mutation	SNP	G	A	A	rs146935299	by1000genomes	TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr3:114014634G>A	uc003ebg.2	+	1	1059	c.304G>A	c.(304-306)Gat>Aat	p.D102N		NM_173799	NP_776160	Q495A1	TIGIT_HUMAN	Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA.	102	Ig-like V-type.				negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding	p.D102N(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GACCGTGAACGATACAGGGGA	0.567000														44			21		0	0	1	0	0
PI4K2A	55361	broad.mit.edu	37	10	99344520	99344520	+	Silent	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr10:99344520G>A	uc010qoy.1	+	0	419	c.60G>A	c.(58-60)agG>agA	p.R20R	PI4K2A_uc001knx.2_Silent_p.R20R|PI4K2A_uc001kny.3_Silent_p.R20R|PI4K2A_uc001knz.3_Silent_p.R20R	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	0					phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GCTTGTCCAGGAATGTGGGGG	0.597000														123			17		0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89133409	89133409	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:89133409C>T	uc001pct.3	-	9	1224	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	NOX4_uc009yvr.3_Missense_Mutation_p.E304K|NOX4_uc001pcu.3_Missense_Mutation_p.E255K|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.E329K|NOX4_uc009yvo.3_Intron|NOX4_uc010rtu.2_Missense_Mutation_p.E163K|NOX4_uc009yvp.3_Intron|NOX4_uc010rtv.2_Missense_Mutation_p.E305K|NOX4_uc009yvq.3_Missense_Mutation_p.E305K	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	329	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	NAD(P)H oxidase activity|electron carrier activity|flavin adenine dinucleotide binding|heme binding|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				TTAAAATTTTCTTTGACCATT	0.393000														90			4		0	0	1	0	0
KRTAP21-2	337978	broad.mit.edu	37	21	32119366	32119366	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr21:32119366C>T	uc011adh.2	-	0	155	c.155G>A	c.(154-156)gGa>gAa	p.G52E		NM_181617	NP_853648	Q3LI59	KR212_HUMAN	Homo sapiens keratin associated protein 21-2 (KRTAP21-2), mRNA.	52						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agagccgtatccacagccata	0.522000														45			32		0	0	1	0	0
PDIA2	64714	broad.mit.edu	37	16	334953	334953	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr16:334953G>A	uc002cgn.1	+	8	1724	c.616G>A	c.(616-618)Gac>Aac	p.D206N	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.D206N|PDIA2_uc010bqt.1_Missense_Mutation_p.D51N	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	206					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TGGCCTCACAGACCGGCCGCG	0.642000														53			27		0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65788408	65788408	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:65788408G>A	uc001ogt.3	-	5	1939	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F		NM_053054	NP_444282	Q8NEC5	CTSR1_HUMAN	Homo sapiens cation channel, sperm associated 1 (CATSPER1), mRNA.	601					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTGCCCGGAGGACCGCGGAG	0.617000														50			17		0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101109757	101109757	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr15:101109757G>A	uc002bwg.3	-	6	2183	c.1960C>T	c.(1960-1962)Cag>Tag	p.Q654*	LINS_uc002bwd.3_Nonsense_Mutation_p.Q241*	NM_001040616	NP_001035706	Q8NG48	LINES_HUMAN	Homo sapiens lines homolog (Drosophila) (LINS), transcript variant 6, mRNA.	654										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						GTTGCTTGCTGGTGTAAAGAT	0.463000														50			21		0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9577844	9577844	+	Missense_Mutation	SNP	T	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr19:9577844T>A	uc002mlp.1	-	9	1989	c.1779A>T	c.(1777-1779)agA>agT	p.R593S	ZNF560_uc010dwr.1_Missense_Mutation_p.R487S	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	593					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R592Q(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCCACTGTGTCTTCGTAAAT	0.413000														77			37		0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12940158	12940158	+	Missense_Mutation	SNP	C	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chrX:12940158C>T	uc004cvd.3	+	2	3223	c.3053C>T	c.(3052-3054)tCc>tTc	p.S1018F	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.S1000F	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	1000	TIR.				I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTAAGAGCTCCATCCTCCAG	0.448000														68			27		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24573572	24573572	+	Missense_Mutation	SNP	G	T	T			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr22:24573572G>T	uc002zzi.1	+	35	6433	c.6306G>T	c.(6304-6306)aaG>aaT	p.K2102N	CABIN1_uc021wnc.1_Missense_Mutation_p.K2052N|CABIN1_uc002zzj.1_Missense_Mutation_p.K2023N|CABIN1_uc002zzl.2_Missense_Mutation_p.K2102N|CABIN1_uc010gul.1_Missense_Mutation_p.K40N	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	2102					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCAGCTCCAAGGCCCCCAGCA	0.672000														109			4		2.56e-06	2.58996e-06	1	1	0
DRD2	1813	broad.mit.edu	37	11	113286220	113286220	+	Missense_Mutation	SNP	G	A	A			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr11:113286220G>A	uc001pnz.3	-	3	967	c.646C>T	c.(646-648)Ctc>Ttc	p.L216F	DRD2_uc010rwv.2_Missense_Mutation_p.L215F|DRD2_uc001poa.4_Missense_Mutation_p.L216F|DRD2_uc001pob.4_Missense_Mutation_p.L216F|DRD2_uc009yyr.1_Missense_Mutation_p.L216F	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	216	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	CGTCTGCGGAGGACAATGTAG	0.567000														56			31		0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197065158	197065158	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr1:197065158delC	uc001gtu.3	-	18	9214	c.8957delG	c.(8956-8958)ggtfs	p.G2986fs	ASPM_uc001gtv.3_Frame_Shift_Del_p.G1401fs|ASPM_uc001gtw.4_Frame_Shift_Del_p.G834fs	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2986					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATAGAAGCAACCTTGAATAAT	0.343													---	81	---	---	8	---					
RXFP1	59350	broad.mit.edu	37	4	159573123	159573123	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr4:159573123delT	uc003ipz.3	+	17	2453	c.2190delT	c.(2188-2190)cctfs	p.P730fs	RXFP1_uc010iqk.3_Frame_Shift_Del_p.P598fs|RXFP1_uc011cja.2_Frame_Shift_Del_p.P625fs|RXFP1_uc010iqo.3_Frame_Shift_Del_p.P682fs|RXFP1_uc011cjb.2_Frame_Shift_Del_p.P628fs|RXFP1_uc011cjc.2_Frame_Shift_Del_p.P649fs|RXFP1_uc011cjd.2_Frame_Shift_Del_p.P649fs|RXFP1_uc010iql.3_Frame_Shift_Del_p.P574fs|RXFP1_uc011cje.2_Frame_Shift_Del_p.P757fs|RXFP1_uc010iqm.3_Frame_Shift_Del_p.P697fs|RXFP1_uc011cjf.2_Frame_Shift_Del_p.P599fs|RXFP1_uc010iqn.3_Frame_Shift_Del_p.P675fs	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	730						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AGATGCCACCTGAGTTAATGA	0.418													---	47	---	---	28	---					
MOG	4340	broad.mit.edu	37	6	29625051	29625051	+	Frame_Shift_Del	DEL	T	-	-	rs79968239		TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr6:29625051delT	uc003nnf.3	+	0	294	c.65delT	c.(64-66)ctcfs	p.L22fs	MOG_uc003qzk.2_Frame_Shift_Del_p.L22fs|MOG_uc010kle.2_Non-coding_Transcript|MOG_uc010klf.2_Non-coding_Transcript|MOG_uc003nmy.2_Frame_Shift_Del_p.L22fs|MOG_uc003nna.3_Frame_Shift_Del_p.L22fs|MOG_uc011dlt.2_5'UTR|MOG_uc011dlv.2_Frame_Shift_Del_p.L22fs|MOG_uc011dlu.2_Frame_Shift_Del_p.L22fs|MOG_uc003nne.3_Frame_Shift_Del_p.L22fs|MOG_uc003nng.3_Frame_Shift_Del_p.L22fs|MOG_uc003nni.3_Frame_Shift_Del_p.L22fs|MOG_uc003nnh.3_Frame_Shift_Del_p.L22fs|MOG_uc003nnj.3_Frame_Shift_Del_p.L22fs|MOG_uc003nnk.3_Frame_Shift_Del_p.L22fs	NM_206809	NP_996532	Q16653	MOG_HUMAN	Homo sapiens myelin oligodendrocyte glycoprotein (MOG), transcript variant alpha1, mRNA.	22					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						ctcctcctcctccAAGTGTCT	0.547													---	10	---	---	16	---					
AHNAK2	113146	broad.mit.edu	37	14	105410335	105410335	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EB-A5UM-01A-11D-A30X-08	TCGA-EB-A5UM-10A-01D-A30X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eb69be0f-a9d6-43de-8aec-54608c95de67	b8fe9ec6-7376-4cb4-b049-4f67ee786991	g.chr14:105410335delG	uc010axc.1	-	6	11573	c.11453delC	c.(11452-11454)ccafs	p.P3818fs	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Frame_Shift_Del_p.P3718fs	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3818						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGACTTGCCTGGGGCAGACAC	0.587													---	215	---	---	101	---