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
HSPB8	26353	broad.mit.edu	37	12	119617332	119617332	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:119617332G>A	uc001txb.3	+	0	738	c.215G>A	c.(214-216)gGc>gAc	p.G72D		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	72					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCCCGGGGCCCCACTGCC	0.682000														33			48		0	0	1	0	0
MAGEC3	139081	broad.mit.edu	37	X	140985027	140985027	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:140985027C>T	uc011mwp.2	+	6	1483	c.1483C>T	c.(1483-1485)Ccc>Tcc	p.P495S	MAGEC3_uc004fbs.3_Missense_Mutation_p.P197S|MAGEC3_uc010nsj.3_Missense_Mutation_p.P197S|MAGEC3_uc022cfh.1_Missense_Mutation_p.P197S	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	495	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGACTATTTTCCCATGATCTT	0.433000														33			48		0	0	1	0	0
CDH13	1012	broad.mit.edu	37	16	83704457	83704457	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:83704457G>A	uc010vns.2	+	9	1569	c.1305G>A	c.(1303-1305)aaG>aaA	p.K435K	CDH13_uc002fgx.3_Silent_p.K388K|CDH13_uc010vnt.2_Silent_p.K134K|CDH13_uc010vnu.2_Silent_p.K349K	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	388	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)		TTGAAGATAAGGATGACCCCA	0.483000														55			29		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	39910314	39910314	+	Missense_Mutation	SNP	A	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:39910314A>T	uc001zki.3	-	10	1539	c.1321T>A	c.(1321-1323)Ttc>Atc	p.F441I		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	441										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		AGCTGGGGGAACACAGGTGTT	0.378000														85			51		0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1092136	1092136	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:1092136G>A	uc001lsx.1	+	29	3982	c.3955G>A	c.(3955-3957)Gac>Aac	p.D1319N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1319						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)	CAGTGGCAGCGACGACGGTGA	0.587000														17			6		0	0	1	0	0
ICAM1	3383	broad.mit.edu	37	19	10394278	10394278	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:10394278C>T	uc002mnq.2	+	2	772	c.453C>T	c.(451-453)ctC>ctT	p.L151L	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	151	Ig-like C2-type 2.				T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	TGGTGCTGCTCCGTGGGGAGA	0.652000														23			11		0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79166327	79166327	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:79166327G>A	uc002jzp.1	-	19	2705	c.2505C>T	c.(2503-2505)gcC>gcT	p.A835A	AZI1_uc002jzm.1_Silent_p.A262A|AZI1_uc002jzn.1_Silent_p.A832A|AZI1_uc002jzo.1_Silent_p.A796A|AZI1_uc010wum.1_Silent_p.A799A|AZI1_uc002jzq.3_5'UTR	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	835					G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CAGCCCTCAGGGCTCGGGTCA	0.701000														15			8		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79371306	79371306	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:79371306G>A	uc003hlb.2	+	45	6715	c.6275_splice	c.e45-1	p.G2092_splice		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2091					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						TCTTCCAAGGGTCTGTAGCAC	0.433000														23			25		0	0	1	0	0
ACBD7	414149	broad.mit.edu	37	10	15120537	15120537	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:15120537C>T	uc001inv.3	-	3	307	c.259G>A	c.(259-261)Gga>Aga	p.G87R	ACBD7_uc010qby.1_Intron	NM_001039844	NP_001034933	Q8N6N7	ACBD7_HUMAN	Homo sapiens acyl-CoA binding domain containing 7 (ACBD7), mRNA.	87	ACB.						fatty-acyl-CoA binding	p.Y86D(1)		endometrium(1)|lung(4)|prostate(1)	6						TTCTAAATTCCGTATTTTTCT	0.388000														28			18		0	0	1	0	0
SRPX2	27286	broad.mit.edu	37	X	99917309	99917309	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:99917309G>A	uc004egb.3	+	3	780	c.300G>A	c.(298-300)agG>agA	p.R100R		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	100	Sushi 1.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TGATTGGAAGGAGGTCGGTGC	0.542000														27			31		0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100332406	100332406	+	RNA	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:100332406C>T	uc021sxl.1	-	1		c.747G>A			DNM1P46_uc010urx.1_Non-coding_Transcript|DNM1P46_uc010ury.2_Non-coding_Transcript					Homo sapiens DNM1 pseudogene 46 (DNM1P46), non-coding RNA.																		TCCAGAGTGGCCTTATGGACC	0.542000														97			22		0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55208508	55208508	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:55208508G>A	uc002xya.3	+	3	929	c.686G>A	c.(685-687)gGa>gAa	p.G229E	TFAP2C_uc010zzi.2_Missense_Mutation_p.G60E	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	229					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCAGTCCCTGGAAGATTGTCG	0.532000														73			23		0	0	1	0	0
ATP5SL	55101	broad.mit.edu	37	19	41939227	41939227	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:41939227G>A	uc002oqv.3	-	4	631	c.564C>T	c.(562-564)gcC>gcT	p.A188A	ATP5SL_uc010xwa.2_Intron|ATP5SL_uc002oqw.2_Silent_p.A182A|ATP5SL_uc021uuz.1_Non-coding_Transcript|ATP5SL_uc002oqx.2_Silent_p.A155A|ATP5SL_uc002oqy.2_Intron|ATP5SL_uc002oqz.2_Intron|ATP5SL_uc002ora.1_Silent_p.A169A|ATP5SL_uc010xwb.2_Silent_p.A161A	NM_001167867	NP_001161339	Q9NW81	AT5SL_HUMAN	Homo sapiens ATP5S-like (ATP5SL), transcript variant 1, mRNA.	182										breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						GGGGGCAACCGGCCAGCGAGA	0.677000														30			10		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	222886	222886	+	RNA	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrGL000192.1:222886G>A	uc010yij.1	-	17		c.3037C>T				NM_017558		Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA.											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)				GGCACTCCAGGGAGAAGGTTG	0.517000														12			7		0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9561218	9561218	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:9561218C>T	uc002wnl.2	-	4	1109	c.564G>A	c.(562-564)ttG>ttA	p.L188L	PAK7_uc002wnk.2_Silent_p.L188L|PAK7_uc002wnj.2_Silent_p.L188L|PAK7_uc010gby.1_Silent_p.L188L	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	188	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)			AATCGGATTTCAAAGGCTTCA	0.463000														131			28		0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249733	52249733	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:52249733C>T	uc021uyn.1	-	2	661	c.515G>A	c.(514-516)gGg>gAg	p.G172E	FPR1_uc002pxq.3_Missense_Mutation_p.G172E|FPR1_uc021uyo.1_Missense_Mutation_p.G172E	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	172					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of MAPK activity|cellular component movement|chemotaxis|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.G172G(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GGCTACTGTCCCCGTTTTACC	0.527000														63			42		0	0	1	0	0
GTF3C5	9328	broad.mit.edu	37	9	135932207	135932207	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:135932207G>A	uc004ccj.4	+	10	1663	c.1326G>A	c.(1324-1326)cgG>cgA	p.R442R	GTF3C5_uc004cci.4_Silent_p.R435R	NM_001122823	NP_001116295	Q9Y5Q8	TF3C5_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA.	435						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCACAGAACGGGATGGGTGGT	0.607000														49			16		0	0	1	0	0
SLC6A20	54716	broad.mit.edu	37	3	45817382	45817383	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:45817382_45817383CC>TT	uc011bai.2	-	3	576_577	c.452_453GG>AA	c.(451-453)agg>aAA	p.R151K	SLC6A20_uc011baj.2_Missense_Mutation_p.R151K	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	151					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TGAGGGTTTTCCTGTACCAGAA	0.609000														84			30		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9082412	9082412	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:9082412C>T	uc002mkp.3	-	0	9607	c.9403G>A	c.(9403-9405)Gcc>Acc	p.A3135T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3136	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						TTTCTTCTGGCTGTGGGTTCT	0.483000														78			30		0	0	1	0	0
CDH7	1005	broad.mit.edu	37	18	63430210	63430210	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr18:63430210G>A	uc002lkb.3	+	1	558	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CDH7_uc002ljz.3_Silent_p.R44R|CDH7_uc002lka.3_Silent_p.R44R	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	44					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GGAGGTCCCGGACCAAGCGCA	0.483000														33			10		0	0	1	0	0
NDUFA10	4705	broad.mit.edu	37	2	240960815	240960815	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:240960815G>A	uc010fzc.2	-	2	360	c.259C>T	c.(259-261)Cct>Tct	p.P87S	NDUFA10_uc002vyn.3_Missense_Mutation_p.P87S|NDUFA10_uc002vyo.2_Missense_Mutation_p.P87S|NDUFA10_uc002vyp.3_Missense_Mutation_p.P87S	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	87					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CCCGCTTCAGGAAAGTGCTTG	0.507000											OREG0015348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		21			6		0	0	1	0	0
TMCO5A	145942	broad.mit.edu	37	15	38233389	38233389	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:38233389G>A	uc001zjw.3	+	5	529	c.427G>A	c.(427-429)Gag>Aag	p.E143K	TMCO5A_uc001zjv.1_Missense_Mutation_p.E143K|TMCO5A_uc010bbc.1_Missense_Mutation_p.E143K	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	143						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						TGCATGCCAAGAGAAGGAGCT	0.433000														23			9		0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1563755	1563755	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:1563755G>A	uc002fte.3	-	29	4870	c.4756C>T	c.(4756-4758)Cat>Tat	p.H1586Y		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1586						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)		ATGCTCTCATGGATCTTCTGC	0.532000														271			115		0	0	1	0	0
DGKD	8527	broad.mit.edu	37	2	234366951	234366951	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:234366951G>A	uc002vui.1	+	21	2614	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	DGKD_uc002vuj.1_Missense_Mutation_p.D824N|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	868					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)	TCCATCATTCGATGACAAGAT	0.597000														25			8		0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136141811	136141811	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:136141811G>A	uc003era.1	-	16	2018	c.1726C>T	c.(1726-1728)Cct>Tct	p.P576S	STAG1_uc003erb.1_Missense_Mutation_p.P576S|STAG1_uc003erc.1_Missense_Mutation_p.P350S|STAG1_uc010hua.1_Missense_Mutation_p.P439S	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	576					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AGTAACATAGGAAGTGTAATA	0.308000														24			4		0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89761464	89761464	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:89761464C>T	uc010cio.3	+	10	961	c.918C>T	c.(916-918)taC>taT	p.Y306Y	CDK10_uc002fod.3_Silent_p.Y235Y|CDK10_uc002foe.3_Silent_p.Y235Y|CDK10_uc002fof.3_Intron|CDK10_uc002fog.4_Silent_p.Y235Y|CDK10_uc002foh.4_Silent_p.Y235Y|CDK10_uc002foi.3_Non-coding_Transcript	NM_052988	NP_001153839	Q15131	CDK10_HUMAN	Homo sapiens cyclin-dependent kinase 10 (CDK10), transcript variant a, mRNA.	306	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		TGTTCATGTACGACCCTAAGA	0.617000														18			13		0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	150883728	150883728	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:150883728C>T	uc003eyp.3	+	9	1582	c.1453C>T	c.(1453-1455)Cat>Tat	p.H485Y	MED12L_uc011bnz.2_Missense_Mutation_p.H345Y|MED12L_uc003eyn.3_Missense_Mutation_p.H485Y|MED12L_uc003eyo.3_Missense_Mutation_p.H485Y	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	485					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GACACTTTATCATAAGATTTT	0.343000														71			40		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767528	148767528	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:148767528G>A	uc003wfh.2	-	3	2473	c.2336C>T	c.(2335-2337)gCc>gTc	p.A779V	ZNF786_uc011kuk.1_Missense_Mutation_p.A742V|ZNF786_uc003wfi.2_Missense_Mutation_p.A693V	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTCCAATCGGCCTCTATCAT	0.507000														321			72		0	0	1	0	0
SEMA6C	10500	broad.mit.edu	37	1	151112559	151112559	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:151112559G>A	uc001ewv.3	-	3	462	c.126C>T	c.(124-126)tcC>tcT	p.S42S	SEMA6C_uc001ewu.3_Silent_p.S42S|SEMA6C_uc001eww.3_Silent_p.S42S|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	42	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGATAATGGGGAAGTACCTT	0.527000														17			11		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179629430	179629430	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:179629430G>A	uc021vsy.1	-	41	10037	c.9812C>T	c.(9811-9813)tCc>tTc	p.S3271F	TTN_uc021vsz.1_Missense_Mutation_p.S3225F|TTN_uc021vta.1_Missense_Mutation_p.S3225F|TTN_uc021vtb.1_Missense_Mutation_p.S3225F|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Missense_Mutation_p.S3271F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3271	Ig-like 19.						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)			CTTGTACCAGGAAATTTTGGG	0.527000														92			26		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20691167	20691167	+	Missense_Mutation	SNP	G	A	A	rs151326874	byFrequency	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:20691167G>A	uc010kuh.3	+	12	1694	c.1457G>A	c.(1456-1458)cGa>cAa	p.R486Q	ABCB5_uc003suw.4_Missense_Mutation_p.R41Q|ABCB5_uc003suv.4_Missense_Mutation_p.R41Q|ABCB5_uc011jyi.1_Missense_Mutation_p.R41Q	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	41	ABC transmembrane type-1.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AAGTATGGACGAGATGATGTG	0.438000														81			110		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214425	140214425	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:140214425C>T	uc003lhq.2	+	0	457	c.457C>T	c.(457-459)Cca>Tca	p.P153S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.P153S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	168	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.P153S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTCGGTTTCCACTAGAGGG	0.557000														54			26		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9318777	9318777	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:9318777C>T	uc001qvl.3	-	17	2158	c.2129G>A	c.(2128-2130)aGa>aAa	p.R710K	PZP_uc009zgl.3_Missense_Mutation_p.R579K|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Missense_Mutation_p.R42K	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.E709D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACATATGGTCTCTCTACTAC	0.388000														24			36		0	0	1	0	0
REG3A	5068	broad.mit.edu	37	2	79385887	79385887	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:79385887G>A	uc002sod.2	-	1	433	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S	REG3A_uc002soe.2_Missense_Mutation_p.P29S|REG3A_uc002sof.2_Missense_Mutation_p.P29S	NM_138938	NP_620355	Q06141	REG3A_HUMAN	Homo sapiens regenerating islet-derived 3 alpha (REG3A), transcript variant 2, mRNA.	29					acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development	cytoplasm|extracellular space|soluble fraction	sugar binding			breast(2)|large_intestine(4)|lung(41)|prostate(2)|skin(1)	50						TCCCTCTGGGGTTCTTCACCT	0.557000														23			13		0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794733	214794733	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:214794733G>A	uc002veq.3	+	11	1356	c.1264G>A	c.(1264-1266)Gat>Aat	p.D422N	SPAG16_uc010fuz.2_Missense_Mutation_p.D273N|SPAG16_uc002ver.3_Missense_Mutation_p.D368N|SPAG16_uc010zjk.2_Missense_Mutation_p.D328N	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	422					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TAAATTATGGGATCTATGTAA	0.418000														67			29		0	0	1	0	0
CHRNA9	55584	broad.mit.edu	37	4	40351143	40351143	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:40351143G>A	uc003gva.1	+	3	626	c.610G>A	c.(610-612)Gag>Aag	p.E204K		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	204					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	TGTGGAATGGGAGGTCCATGG	0.517000														110			140		0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226614	149226614	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:149226614C>T	uc002twm.4	+	8	2099	c.1102C>T	c.(1102-1104)Cca>Tca	p.P368S	MBD5_uc010zbs.2_Non-coding_Transcript|MBD5_uc002twn.1_5'Flank	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	368	Pro-rich.					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)		TCCTAGTAAACCAGTGAATCA	0.448000														122			46		0	0	1	0	0
CCNC	892	broad.mit.edu	37	6	99997389	99997389	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:99997389G>A	uc003pqe.3	-	8	880	c.593C>T	c.(592-594)gCt>gTt	p.A198V	LOC100130890_uc003pqc.3_Intron|CCNC_uc003pqd.3_Missense_Mutation_p.A113V|CCNC_uc010kcr.3_Non-coding_Transcript|CCNC_uc010kcs.3_Missense_Mutation_p.A197V|CCNC_uc011eah.2_Missense_Mutation_p.A113V	NM_005190	NP_001013417	P24863	CCNC_HUMAN	Homo sapiens cyclin C (CCNC), transcript variant 1, mRNA.	198					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding						all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		CATACCTAAAGCTATCATGAA	0.318000														24			5		0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114083350	114083350	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:114083350G>A	uc001vtq.1	-	3	650	c.563C>T	c.(562-564)cCc>cTc	p.P188L	ADPRHL1_uc001vtp.1_Missense_Mutation_p.P106L	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	188					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTGGACCAGGGGCTTTCCTTG	0.672000														13			10		0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301984	110301984	+	Missense_Mutation	SNP	T	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:110301984T>A	uc001dyr.2	-	4	506	c.281A>T	c.(280-282)gAc>gTc	p.D94V	EPS8L3_uc001dys.2_Missense_Mutation_p.D94V|EPS8L3_uc001dyq.2_Missense_Mutation_p.D94V|EPS8L3_uc009wfm.2_Missense_Mutation_p.D60V|EPS8L3_uc009wfn.2_Missense_Mutation_p.D60V|EPS8L3_uc009wfo.2_Missense_Mutation_p.D41V	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	94						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CTGGATGCTGTCTAGGCGGTA	0.597000														72			18		0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004113	74004113	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:74004113C>T	uc010wss.1	-	21	5467	c.5239G>A	c.(5239-5241)Gag>Aag	p.E1747K	EVPL_uc002jqi.2_Missense_Mutation_p.E1725K|EVPL_uc010wst.1_Missense_Mutation_p.E1195K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1725	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTGGTGACCTCCTCCCAGTCA	0.652000														52			23		0	0	1	0	0
GADL1	339896	broad.mit.edu	37	3	30880536	30880536	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:30880536C>T	uc003cep.2	-	8	903	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	GADL1_uc003ceq.1_Missense_Mutation_p.E286K	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	286					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCTGCTATTTCATCCAGAGGG	0.448000														41			31		0	0	1	0	0
FSIP1	161835	broad.mit.edu	37	15	40005658	40005658	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:40005658A>C	uc001zki.3	-	9	1393	c.1175T>G	c.(1174-1176)aTg>aGg	p.M392R		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	392										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		ATTTTCCTTCATCATTTTCAG	0.368000														89			41		0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36707463	36707463	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:36707463G>A	uc002hqd.3	-	14	3115	c.2890C>T	c.(2890-2892)Cac>Tac	p.H964Y	SRCIN1_uc002hqf.1_Missense_Mutation_p.H836Y|SRCIN1_uc002hqe.2_Missense_Mutation_p.H818Y	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	836					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGGGGCTTGTGATCTGGAGTG	0.667000														14			9		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060702	16060702	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:16060702G>A	uc010xov.2	+	0	885	c.885G>A	c.(883-885)agG>agA	p.R295R		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TCAGCCTAAGGAACAAGGAGC	0.438000														79			45		0	0	1	0	0
OTUD6A	139562	broad.mit.edu	37	X	69283110	69283111	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:69283110_69283111GG>AA	uc004dxu.1	+	0	770_771	c.736_737GG>AA	c.(736-738)ggg>AAg	p.G246K		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	246	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTTGATCATCGGGGAGGAGTAC	0.649000														5			7		0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61828507	61828507	+	Silent	SNP	A	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:61828507A>C	uc001jky.3	-	36	12470	c.12132T>G	c.(12130-12132)ggT>ggG	p.G4044G	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.	4044					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.R4043R(1)		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						AAGGCTGGCCACCCCGGGAAG	0.488000														59			31		0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	80808870	80808870	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:80808870G>A	uc010ysh.2	+	12	1938	c.1933G>A	c.(1933-1935)Gaa>Aaa	p.E645K	CTNNA2_uc010yse.2_Missense_Mutation_p.E645K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E645K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E645K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E277K	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	645					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CTTTGAGCAGGAAGATTATGA	0.458000														36			14		0	0	1	0	0
MAST2	23139	broad.mit.edu	37	1	46498298	46498298	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:46498298G>A	uc001cov.3	+	25	3728	c.3445G>A	c.(3445-3447)Gca>Aca	p.A1149T	MAST2_uc001cow.3_Missense_Mutation_p.A1149T|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1149	PDZ.				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GGCCAGTGAGGCAGGGCTTCG	0.572000														29			16		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102643649	102643649	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:102643649C>T	uc001phg.2	-	7	1192	c.1155G>A	c.(1153-1155)agG>agA	p.R385R		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	385					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CATCAATTTTCCTTATGGTTG	0.413000														55			49		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34040399	34040399	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:34040399G>A	uc001zhi.3	+	53	8144	c.8074G>A	c.(8074-8076)Gga>Aga	p.G2692R	RYR3_uc010bar.3_Missense_Mutation_p.G2692R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2692	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACCAAAGAGGGAGAAGCTTT	0.547000														28			15		0	0	1	0	0
PRB1	5542	broad.mit.edu	37	12	11506690	11506690	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:11506690C>T	uc001qzw.1	-	2	384	c.347G>A	c.(346-348)gGa>gAa	p.G116E	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	116	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGCTTTCCTGGAGGAGG	0.612000														302			161		0	0	1	0	0
SWI5	375757	broad.mit.edu	37	9	131038524	131038524	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:131038524C>T	uc004bup.3	+	0	100	c.100C>T	c.(100-102)Cct>Tct	p.P34S	GOLGA2_uc011maw.2_5'Flank|GOLGA2_uc010mxw.3_5'Flank|GOLGA2_uc004bul.1_5'Flank|SWI5_uc010mxx.1_Missense_Mutation_p.P34S	NM_001040011	NP_001035100	Q1ZZU3	SWI5_HUMAN	Homo sapiens SWI5 recombination repair homolog (yeast) (SWI5), mRNA.	34					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										GGCCGGCTTTCCTTGGGTGCG	0.682000														26			17		0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86286780	86286780	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:86286780G>A	uc002blv.1	+	35	8286	c.8116G>A	c.(8116-8118)Gag>Aag	p.E2706K	AKAP13_uc002blu.1_Missense_Mutation_p.E2710K|AKAP13_uc002blw.1_Missense_Mutation_p.E1171K|AKAP13_uc002blx.1_Missense_Mutation_p.E951K	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2706	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						CAGTCCTGAGGAGCCCCCCTC	0.507000														86			71		0	0	1	0	0
TUBA3C	7278	broad.mit.edu	37	13	19751421	19751421	+	Silent	SNP	G	A	A	rs142245280		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:19751421G>A	uc009zzj.3	-	3	807	c.702C>T	c.(700-702)atC>atT	p.I234I		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	234					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGAGGACACGATCTGCCCAA	0.567000														106			99		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802576	185802576	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:185802576G>A	uc002uph.3	+	3	3047	c.2453G>A	c.(2452-2454)aGa>aAa	p.R818K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	818						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAAAGAGGCAGATTCCACCCC	0.388000														37			14		0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73567455	73567455	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:73567455G>A	uc001jrx.4	+	56	8872	c.8482G>A	c.(8482-8484)Gag>Aag	p.E2828K	CDH23_uc001jsg.4_Missense_Mutation_p.E591K|CDH23_uc001jsh.4_Missense_Mutation_p.E591K|CDH23_uc001jsi.4_Missense_Mutation_p.E591K	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2831	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACACTGCAGGAGGTGCGCGT	0.612000														13			17		0	0	1	0	0
C3orf22	152065	broad.mit.edu	37	3	126268892	126268892	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:126268892G>A	uc003ejb.3	-	3	574	c.245C>T	c.(244-246)tCt>tTt	p.S82F		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	82										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GCAGGAGCCAGACGGTGATGT	0.612000														37			9		0	0	1	0	0
SLC5A10	125206	broad.mit.edu	37	17	18923163	18923163	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:18923163C>T	uc002gut.1	+	12	1637	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	SLC5A10_uc002gur.1_Silent_p.F486F|SLC5A10_uc002guu.1_Silent_p.F516F|SLC5A10_uc002guv.1_Silent_p.F489F|SLC5A10_uc010vyl.1_Silent_p.F480F	NM_152351	NP_689564	A0PJK1	SC5AA_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA.	516					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						ACCTGCACTTCGCTGTCGCCC	0.657000														13			4		0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45645616	45645616	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:45645616G>A	uc003jok.3	-	1	545	c.520C>T	c.(520-522)Cca>Tca	p.P174S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	174						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ATAATCCATGGTGTTGTTGTT	0.353000														59			20		0	0	1	0	0
PCSK5	5125	broad.mit.edu	37	9	78848491	78848491	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:78848491C>T	uc004akc.2	+	21	3383	c.2845C>T	c.(2845-2847)Cac>Tac	p.H949Y		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	652					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	Golgi lumen|extracellular space|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGGCCCTACCCACTGCACCTC	0.537000														53			5		0	0	1	0	0
RMI1	80010	broad.mit.edu	37	9	86616475	86616475	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:86616475G>A	uc022bjb.1	+	0	574	c.574G>A	c.(574-576)Ggt>Agt	p.G192S	RMI1_uc004anq.4_Missense_Mutation_p.G192S|RMI1_uc004anr.4_Missense_Mutation_p.G192S|RMI1_uc004anp.4_Missense_Mutation_p.G192S|RMI1_uc004ans.4_Missense_Mutation_p.G192S	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	192					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AGTGTTAGGAGGTGAAGTAGA	0.353000														64			28		0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156593105	156593105	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:156593105C>T	uc003lwn.3	-	0	175	c.75G>A	c.(73-75)atG>atA	p.M25I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	25						nucleus		p.M25I(2)|p.S24P(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGGTCCCCCATGGAGGTTT	0.408000														87			26		0	0	1	0	0
ATAD2	29028	broad.mit.edu	37	8	124340651	124340651	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:124340651C>T	uc003yqh.4	-	24	3755	c.3647G>A	c.(3646-3648)gGa>gAa	p.G1216E	ATAD2_uc011lii.2_Missense_Mutation_p.G1007E|ATAD2_uc003yqi.4_Non-coding_Transcript	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	1216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCCTGTGTTTCCGGTCTCATT	0.373000														109			23		0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69005918	69005918	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:69005918G>A	uc003xxv.1	+	20	2356	c.2329G>A	c.(2329-2331)Gga>Aga	p.G777R	PREX2_uc003xxu.1_Missense_Mutation_p.G777R|PREX2_uc011lez.1_Missense_Mutation_p.G712R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	777					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			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						CAAGCCCCCTGGAGATGAAGC	0.413000														70			59		0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113243573	113243573	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:113243573C>T	uc010mtz.3	-	11	2651	c.2314G>A	c.(2314-2316)Gaa>Aaa	p.E772K	SVEP1_uc010mua.1_Missense_Mutation_p.E772K|SVEP1_uc004beu.2_Missense_Mutation_p.E772K	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	772	Sushi 4.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ACGCCATCTTCATAAGCACAA	0.383000														14			6		0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14868761	14868761	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:14868761A>G	uc003zlm.3	-	2	1031	c.215T>C	c.(214-216)gTt>gCt	p.V72A	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	72					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GAGTTTCCCAACCCTCTGGGT	0.468000														7			6		0	0	1	0	0
LIN7C	55327	broad.mit.edu	37	11	27528326	27528326	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:27528326G>A	uc001mrl.3	-	1	1	c.-26_splice	c.e1-1		LIN7C_uc009yii.3_Splice_Site|BDNF-AS_uc009yip.3_5'Flank|BDNF-AS_uc001mrn.3_5'Flank|BDNF-AS_uc001mro.3_5'Flank|BDNF-AS_uc001mrm.3_5'Flank|BDNF-AS_uc009yiq.3_5'Flank|BDNF-AS_uc001mrp.3_5'Flank|BDNF-AS_uc009yij.3_5'Flank|BDNF-AS_uc009yik.3_5'Flank|BDNF-AS_uc009yil.3_5'Flank|BDNF-AS_uc009yin.3_5'Flank|BDNF-AS_uc009yio.3_5'Flank|BDNF-AS_uc009yim.3_5'Flank|BDNF-AS_uc009yir.3_5'Flank|BDNF-AS_uc009yis.3_5'Flank|BDNF-AS_uc009yiu.3_5'Flank|BDNF-AS_uc009yix.3_5'Flank|BDNF-AS_uc009yiy.3_5'Flank|BDNF-AS_uc001mrq.4_5'Flank|BDNF-AS_uc009yiw.3_5'Flank|BDNF-AS_uc009yiz.3_5'Flank|BDNF-AS_uc001mrr.4_5'Flank|BDNF-AS_uc009yit.3_5'Flank|BDNF-AS_uc009yiv.3_5'Flank|BDNF-AS_uc009yja.3_5'Flank|BDNF-AS_uc009yjb.3_5'Flank	NM_018362	NP_060832	Q9NUP9	LIN7C_HUMAN	Homo sapiens lin-7 homolog C (C. elegans) (LIN7C), mRNA.						exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						CAGACCCACAGGAAATGACGA	0.642000														32			10		0	0	1	0	0
ASPH	444	broad.mit.edu	37	8	62479785	62479785	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:62479785G>A	uc003xuj.3	-	16	1511	c.1242C>T	c.(1240-1242)gtC>gtT	p.V414V	ASPH_uc011leg.2_Silent_p.V385V|ASPH_uc003xuo.2_Silent_p.V395V	NM_004318	NP_004309	Q12797	ASPH_HUMAN	Homo sapiens aspartate beta-hydroxylase (ASPH), transcript variant 1, mRNA.	414					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			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)	GGTCTGCAGGGACATCAGGTA	0.483000														55			22		0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292883	130292883	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:130292883G>A	uc010htl.3	+	6	3092	c.3061G>A	c.(3061-3063)Gaa>Aaa	p.E1021K		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1021	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GAAAATGAAGGAATTTCTGGC	0.418000														21			6		0	0	1	0	0
MLH1	4292	broad.mit.edu	37	3	37035069	37035069	+	Silent	SNP	C	T	T	rs63749816		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:37035069C>T	uc003cgl.3	+	0	229	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	MLH1_uc011aye.2_5'Flank|EPM2AIP1_uc003cgk.3_5'Flank|MLH1_uc011ayb.2_5'UTR|MLH1_uc010hge.3_Silent_p.L11L|MLH1_uc011ayc.2_5'Flank|MLH1_uc011ayd.2_5'Flank|MLH1_uc003cgo.3_5'Flank|MLH1_uc003cgn.4_5'Flank	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	11					mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.R10R(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						TATTCGGCGGCTGGACGAGAC	0.557000		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					41			21		0	0	1	0	0
TMEFF2	23671	broad.mit.edu	37	2	193056684	193056684	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:193056684G>A	uc002utc.3	-	1	598	c.204C>T	c.(202-204)ctC>ctT	p.L68L	TMEFF2_uc002utd.1_Silent_p.L68L	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	68						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TGGTGTCACAGAGGAAGAGAT	0.353000														32			11		0	0	1	0	0
GTPBP10	85865	broad.mit.edu	37	7	89982131	89982131	+	Splice_Site	SNP	A	G	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:89982131A>G	uc003ukm.2	+	2	111	c.34_splice	c.e2-1	p.Y12_splice	GTPBP10_uc003ukl.1_Splice_Site|GTPBP10_uc003uki.1_Splice_Site_p.Y29_splice|GTPBP10_uc003ukj.1_Splice_Site_p.Y3_splice|GTPBP10_uc003ukk.1_Splice_Site|GTPBP10_uc003ukn.2_Splice_Site_p.Y12_splice|GTPBP10_uc003uko.2_Splice_Site	NM_033107	NP_149098	A4D1E9	GTPBA_HUMAN	Homo sapiens GTP-binding protein 10 (putative) (GTPBP10), transcript variant 2, mRNA.	12					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						TTTTTTAAGTATGGAAATTTC	0.368000											OREG0003797	type=REGULATORY REGION|Gene=BC021573|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		16			22		0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215891607	215891607	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:215891607G>A	uc002vew.3	-	9	1337	c.1117C>T	c.(1117-1119)Cct>Tct	p.P373S	ABCA12_uc002vev.3_Missense_Mutation_p.P55S|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	373					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGAATATAAGGACTATTTGCT	0.358000														119			53		0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146829450	146829450	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:146829450C>T	uc003weu.2	+	7	1713	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	399					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTCAGTTTCCAGTTTAGGA	0.493000										HNSCC(39;0.1)				49			64		0	0	1	0	0
TMPRSS11E	28983	broad.mit.edu	37	4	69334599	69334599	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:69334599G>A	uc003hdz.4	+	3	325	c.261G>A	c.(259-261)gtG>gtA	p.V87V		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	87	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						ACAAACAGGTGAAAAATGCAT	0.269000														52			70		0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182835669	182835669	+	Missense_Mutation	SNP	T	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:182835669T>C	uc001gpr.3	+	12	1598	c.1423T>C	c.(1423-1425)Ttt>Ctt	p.F475L	DHX9_uc001gps.3_Missense_Mutation_p.F261L	NM_001357	NP_001348	Q08211	DHX9_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 (DHX9), transcript variant 1, mRNA.	475	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	CRD-mediated mRNA stability complex|centrosome|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding	p.R474*(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CAGCGTTCGATTTGAGTCTAT	0.428000														121			52		0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31852325	31852325	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:31852325G>A	uc003nxz.1	-	20	2625	c.2615C>T	c.(2614-2616)tCa>tTa	p.S872L	EHMT2_uc003nxx.1_Missense_Mutation_p.S70L|EHMT2_uc003nxy.1_Missense_Mutation_p.S670L|EHMT2_uc011don.1_Missense_Mutation_p.S895L|EHMT2_uc003nya.1_Missense_Mutation_p.S838L	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	872					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGCCCCACGTGACAGGAATAA	0.627000														62			34		0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179659832	179659832	+	Splice_Site	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:179659832G>A	uc010pnp.2	+	18	3379	c.2861_splice	c.e18-1	p.V954_splice	TDRD5_uc021pfm.1_Splice_Site_p.V900_splice|TDRD5_uc001gnf.2_Splice_Site_p.V900_splice|TDRD5_uc021pfn.1_Splice_Site_p.V954_splice|TDRD5_uc001gnh.2_Splice_Site_p.V455_splice	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	900					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						CTTTTCCAGTGGAAAGCTCAC	0.403000														67			23		0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51378772	51378772	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:51378772G>A	uc011bds.2	+	37	3894	c.3871G>A	c.(3871-3873)Gag>Aag	p.E1291K		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1291	DHR-2.					cytoplasm	GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAGCGGAAGGAGGGACTGTG	0.542000														16			4		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2815309	2815309	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:2815309G>A	uc022aqr.1	-	62	10113	c.9723C>T	c.(9721-9723)ttC>ttT	p.F3241F	CSMD1_uc011kwj.2_Silent_p.F2571F|CSMD1_uc010lrg.3_Silent_p.F1133F	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	3242	Sushi 27.					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)		TTCTGCACCTGAAAAAAACCG	0.453000														5			8		0	0	1	0	0
SLC1A7	6512	broad.mit.edu	37	1	53558273	53558273	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:53558273G>A	uc021onn.1	-	6	1152	c.984C>T	c.(982-984)atC>atT	p.I328I	SLC1A7_uc021onm.1_Silent_p.I256I|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Silent_p.I328I|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	328						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GGATGCCACGGATGAAGACGA	0.632000														45			12		0	0	1	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42845326	42845326	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr21:42845326G>A	uc010gor.3	-	8	997	c.936C>T	c.(934-936)gtC>gtT	p.V312V	TMPRSS2_uc002yzj.3_Silent_p.V275V|TMPRSS2_uc010gos.1_Silent_p.V275V	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	275	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)				GGACGTTCTGGACGTGCAGGC	0.692000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate									13			5		0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49161487	49161487	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:49161487G>A	uc003cwe.3	-	23	3770	c.3471C>T	c.(3469-3471)cgC>cgT	p.R1157R		NM_002292	NP_002283	P55268	LAMB2_HUMAN	Homo sapiens laminin, beta 2 (laminin S) (LAMB2), mRNA.	1157	Laminin EGF-like 13.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GACCTGTGAAGCGGTGACACT	0.577000														35			12		0	0	1	0	0
CYP2S1	29785	broad.mit.edu	37	19	41703702	41703702	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:41703702G>A	uc002opw.3	+	2	417	c.362G>A	c.(361-363)gGg>gAg	p.G121E	CYP2S1_uc010xvx.2_Intron	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	121					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						TTCTCCAACGGGGAGCGGTGG	0.582000														38			12		0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	34021120	34021120	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:34021120G>A	uc001zhi.3	+	46	7166	c.7096G>A	c.(7096-7098)Gtg>Atg	p.V2366M	RYR3_uc010bar.3_Missense_Mutation_p.V2366M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2366	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCACCTATGGTGCTGTTCTT	0.473000														11			10		0	0	1	0	0
MDM1	56890	broad.mit.edu	37	12	68709041	68709041	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:68709041G>A	uc001stz.2	-	8	1322	c.1186C>T	c.(1186-1188)Cct>Tct	p.P396S	MDM1_uc009zqv.1_Missense_Mutation_p.P116S|MDM1_uc010stc.1_Missense_Mutation_p.P361S	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	396						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGGCTTGTAGGATCTCTGCGT	0.353000														42			40		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9088132	9088132	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:9088132G>A	uc002mkp.3	-	0	3887	c.3683C>T	c.(3682-3684)tCa>tTa	p.S1228L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1228	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						TGCCTCCAATGATGTGGCTGG	0.507000														194			81		0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47398693	47398693	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:47398693C>T	uc001cqp.4	-	9	1300	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	CYP4A11_uc001cqq.2_Missense_Mutation_p.G417S	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	417					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	TGGTGAAGGCCATAAATGGAG	0.517000														215			84		0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156105739	156105739	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:156105739C>T	uc001fni.2	+	5	1233	c.984C>T	c.(982-984)gcC>gcT	p.A328A	LMNA_uc001fnf.1_Silent_p.A328A|LMNA_uc001fng.2_Silent_p.A328A|LMNA_uc001fnh.2_Silent_p.A328A|LMNA_uc009wro.1_Silent_p.A328A|LMNA_uc010pgz.1_Silent_p.A216A|LMNA_uc001fnj.2_Silent_p.A247A|LMNA_uc001fnk.2_Silent_p.A229A|LMNA_uc009wrp.3_Missense_Mutation_p.P56L|LMNA_uc010pha.1_5'UTR	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	328	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					ACTCACTGGCCCGTGAGCGGG	0.657000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					26			4		0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195517978	195517978	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:195517978C>T	uc021xjp.1	-	1	629	c.473G>A	c.(472-474)gGa>gAa	p.G158E	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.G40E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	163					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTTTCAGTTCCTGCTGTTGA	0.463000														57			19		0	0	1	0	0
AIM1L	55057	broad.mit.edu	37	1	26672093	26672093	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:26672093G>A	uc001bmd.4	-	1	1206	c.1056C>T	c.(1054-1056)ccC>ccT	p.P352P		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	0	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGAGAGGAGGGGACTGATG	0.662000														23			6		0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347448	89347448	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:89347448G>A	uc002fmx.1	-	8	5963	c.5502C>T	c.(5500-5502)ccC>ccT	p.P1834P	ANKRD11_uc002fmy.1_Silent_p.P1834P|ANKRD11_uc002fnc.1_Silent_p.P1834P|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.P1791P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1834	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CCGGGGGCAGGGGCGCCCTGT	0.622000														36			17		0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329560	107329560	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:107329560C>T	uc003vep.3	+	8	1288	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	SLC26A4_uc011kmb.2_5'Flank|SLC26A4_uc011kmc.2_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	355					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						GCATCATTTTCCATCGCTGTG	0.448000									Pendred syndrome					103			104		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6691339	6691339	+	Silent	SNP	A	G	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:6691339A>G	uc001qpo.3	-	29	4643	c.4479T>C	c.(4477-4479)ctT>ctC	p.L1493L	CHD4_uc001qpn.3_Silent_p.L1486L|CHD4_uc001qpp.3_Silent_p.L1518L|AK096395_uc001qpq.1_Intron|SCARNA11_uc001qpr.1_5'Flank	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	1493					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CAATTCTAGTAAGGACATGCT	0.542000														18			29		0	0	1	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58064912	58064912	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:58064912G>A	uc002iyf.2	-	9	801	c.566C>T	c.(565-567)cCa>cTa	p.P189L	AK097658_uc002iye.1_Intron					Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		TGTCAGATGTGGAGGCAAAGG	0.403000														48			15		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592993	179592993	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:179592993C>T	uc021vsy.1	-	63	16051	c.15826G>A	c.(15826-15828)Gaa>Aaa	p.E5276K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E1937K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6203	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGATATTTCTTTTCCATCC	0.378000														27			15		0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43986164	43986164	+	Silent	SNP	C	T	T	rs139717285		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:43986164C>T	uc001uza.4	-	4	396	c.96G>A	c.(94-96)gcG>gcA	p.A32A	ENOX1_uc001uzc.4_Silent_p.A32A|ENOX1_uc001uzb.4_Silent_p.A32A	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	32					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TCGTGTCTATCGCTATACTCC	0.493000														32			9		0	0	1	0	0
TBC1D2	55357	broad.mit.edu	37	9	100975447	100975447	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:100975447G>A	uc011lvb.2	-	6	1608	c.1428C>T	c.(1426-1428)caC>caT	p.H476H	TBC1D2_uc004ayp.3_Silent_p.H16H|TBC1D2_uc004ayq.3_Silent_p.H476H|TBC1D2_uc004ayr.3_Silent_p.H258H	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	476						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		TTGTGACCTGGTGGATCTCGG	0.532000														44			17		0	0	1	0	0
GRIN2B	2904	broad.mit.edu	37	12	13906478	13906478	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:13906478C>T	uc001rbt.2	-	2	962	c.783G>A	c.(781-783)ctG>ctA	p.L261L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	261					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCCCTGCCACCAGACTGGGCA	0.537000														18			45		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86162	86162	+	RNA	SNP	T	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrGL000211.1:86162T>C	uc003bnz.1	+	5		c.910T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTGAGAATGTTAATGGATACA	0.443000														11			6		0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62050058	62050058	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:62050058C>T	uc002jds.1	-	0	221	c.144G>A	c.(142-144)gaG>gaA	p.E48E		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	48					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTTCGGGCTCCTCAATCTCCA	0.637000														13			8		0	0	1	0	0
CD79A	973	broad.mit.edu	37	19	42383132	42383132	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:42383132A>C	uc002orv.3	+	1	337	c.152A>C	c.(151-153)cAc>cCc	p.H51P	CD79A_uc002oru.3_Missense_Mutation_p.H51P	NM_001783	NP_001774	P11912	CD79A_HUMAN	Homo sapiens CD79a molecule, immunoglobulin-associated alpha (CD79A), transcript variant 1, mRNA.	51	Ig-like C2-type.				B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GAAGACGCCCACTTCCAATGC	0.637000			"""O, S"""		DLBCL									34			13		0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516745	140516745	+	Missense_Mutation	SNP	C	T	T	rs61747444		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:140516745C>T	uc003liq.3	+	0	1946	c.1729C>T	c.(1729-1731)Cgg>Tgg	p.R577W		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	577	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCCCCGGGCGGCCGA	0.701000														62			15		0	0	1	0	0
CDHR2	54825	broad.mit.edu	37	5	175998270	175998270	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:175998270C>T	uc021yie.1	+	5	646	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CDHR2_uc003mem.2_Silent_p.F124F|CDHR2_uc003men.1_Silent_p.F124F	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CACCCGTTTTCCAGAACACCG	0.522000														10			6		0	0	1	0	0
TIE1	7075	broad.mit.edu	37	1	43778232	43778232	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:43778232C>T	uc001ciu.3	+	11	2064	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	TIE1_uc010okd.2_Silent_p.G629G|TIE1_uc010oke.2_Silent_p.G584G|TIE1_uc009vwq.3_Silent_p.G585G|TIE1_uc010okf.1_Silent_p.G274G|TIE1_uc010okg.2_Silent_p.G274G	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	629	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTCCTGGGCCCGGCCTCGC	0.672000														37			17		0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113593774	113593774	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:113593774C>T	uc002tii.1	-	1	120	c.33G>A	c.(31-33)atG>atA	p.M11I	IL1B_uc002tih.1_5'Flank	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	11					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AATAAGCCATCATTTCACTGG	0.473000														33			17		0	0	1	0	0
ABCC4	10257	broad.mit.edu	37	13	95830017	95830017	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:95830017G>A	uc001vmd.4	-	12	1790	c.1671C>T	c.(1669-1671)ctC>ctT	p.L557L	ABCC4_uc010afk.3_Silent_p.L557L|ABCC4_uc001vme.2_Silent_p.L557L|ABCC4_uc010tih.1_Silent_p.L482L|ABCC4_uc001vmf.2_Silent_p.L514L|ABCC4_uc010afl.1_Silent_p.L514L|ABCC4_uc010afm.1_Silent_p.L570L	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	557	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GATCGTCCAGGAGATAGATGT	0.438000														40			28		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13830149	13830149	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:13830149G>A	uc003jfd.2	-	36	6277	c.6235C>T	c.(6235-6237)Ctt>Ttt	p.L2079F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2079	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTAAGAAAAGCCCAAATTCA	0.373000									Kartagener syndrome					29			12		0	0	1	0	0
UCK1	83549	broad.mit.edu	37	9	134404537	134404537	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:134404537G>A	uc004cay.3	-	3	587	c.486C>T	c.(484-486)tcC>tcT	p.S162S	UCK1_uc010mzk.3_Silent_p.S153S|UCK1_uc004cba.3_Silent_p.S162S|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	162					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCTGACGTCGGAGTCGGTGT	0.647000														21			11		0	0	1	0	0
CHEK2P2	646096	broad.mit.edu	37	15	20488902	20488902	+	RNA	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:20488902C>T	uc001ytf.1	+	1		c.385C>T								Homo sapiens checkpoint kinase 2 pseudogene 2 (CHEK2P2), non-coding RNA.																		AGGAGTTATTCTTTTTATCTG	0.448000														55			9		0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6897264	6897264	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:6897264C>T	uc002mfw.3	+	3	381	c.343C>T	c.(343-345)Ccc>Tcc	p.P115S	EMR1_uc010dvc.3_Missense_Mutation_p.P115S|EMR1_uc010dvb.3_Intron|EMR1_uc010xji.2_Intron|EMR1_uc010xjj.2_Missense_Mutation_p.P115S	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	115	EGF-like 2; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TTTCTCTTCTCCCACTGGAAA	0.507000														39			15		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037969	75037969	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:75037969C>T	uc001dgg.3	-	13	3644	c.3425G>A	c.(3424-3426)gGg>gAg	p.G1142E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1142	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGAAGCCCTGGATTGTC	0.458000														49			20		0	0	1	0	0
ZNF354A	6940	broad.mit.edu	37	5	178139426	178139426	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:178139426G>A	uc003mjj.3	-	4	1651	c.1453C>T	c.(1453-1455)Cag>Tag	p.Q485*		NM_005649	NP_005640	O60765	Z354A_HUMAN	Homo sapiens zinc finger protein 354A (ZNF354A), mRNA.	485					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TGCATTCTCTGATGTTGAATG	0.378000														100			38		0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73753115	73753115	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:73753115G>A	uc002jpg.3	+	37	5332	c.5145G>A	c.(5143-5145)aaG>aaA	p.K1715K	ITGB4_uc002jph.3_Silent_p.K1645K|ITGB4_uc002jpi.4_Silent_p.K1645K|ITGB4_uc002jpj.3_Silent_p.K1698K	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1715	Fibronectin type-III 4.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAAGTTCAAGGTGCAGGCCA	0.652000														39			17		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136566133	136566133	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:136566133C>T	uc002tuu.1	-	7	3795	c.3784G>A	c.(3784-3786)Gaa>Aaa	p.E1262K		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1262	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCATACTCTTCCTTGATCCAG	0.542000														77			39		0	0	1	0	0
NLE1	54475	broad.mit.edu	37	17	33466948	33466948	+	Silent	SNP	G	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:33466948G>T	uc002hiy.1	-	2	328	c.300C>A	c.(298-300)gtC>gtA	p.V100V	NLE1_uc002hiz.1_5'UTR	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	100						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCACAGCCCGGACTCTGAAGA	0.567000														33			14		3.27435e-08	3.27435e-08	1	1	0
ATPAF2	91647	broad.mit.edu	37	17	17921914	17921914	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:17921914G>A	uc002gse.1	-	7	972	c.819C>T	c.(817-819)atC>atT	p.I273I	ATPAF2_uc002gsd.1_Intron	NM_145691	NP_663729	Q8N5M1	ATPF2_HUMAN	Homo sapiens ATP synthase mitochondrial F1 complex assembly factor 2 (ATPAF2), nuclear gene encoding mitochondrial protein, mRNA.	273					proton-transporting ATP synthase complex assembly	mitochondrion|nuclear speck	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	8	all_neural(463;0.228)					AGCAGAGATGGATGAAGAGGG	0.612000														63			33		0	0	1	0	0
GJB2	2706	broad.mit.edu	37	13	20763301	20763301	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr13:20763301G>A	uc001umy.3	-	1	635	c.420C>T	c.(418-420)atC>atT	p.I140I	GJB2_uc021rha.1_Silent_p.I140I	NM_004004	NP_003995	P29033	CXB2_HUMAN	Homo sapiens gap junction protein, beta 2, 26kDa (GJB2), mRNA.	140					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	ER-Golgi intermediate compartment|connexon complex|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		CCCGGAAGAAGATGCTGCTTG	0.527000									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		84			23		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136700446	136700446	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:136700446G>A	uc003vtf.1	+	3	1457	c.834G>A	c.(832-834)gaG>gaA	p.E278E	CHRM2_uc003vtg.1_Silent_p.E278E|CHRM2_uc003vti.1_Silent_p.E278E|CHRM2_uc003vtm.1_Silent_p.E278E|CHRM2_uc003vtj.1_Silent_p.E278E|CHRM2_uc003vtk.1_Silent_p.E278E|CHRM2_uc003vtl.1_Silent_p.E278E|CHRM2_uc003vtn.1_Silent_p.E278E|CHRM2_uc003vto.1_Silent_p.E278E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Silent_p.E278E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	278					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TTCAGGGAGAGGAGAAGGAGA	0.488000														61			18		0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3008918	3008918	+	Splice_Site	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:3008918C>T	uc022aqr.1	-	40	6421	c.6031_splice	c.e40+1	p.G2011_splice	CSMD1_uc011kwj.2_Splice_Site_p.G1404_splice|CSMD1_uc003wqe.3_Missense_Mutation_p.G1168D|CSMD1_uc010lrg.3_Splice_Site_p.G80_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2012	CUB 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTTTCACTTACCATAGCCGAT	0.428000														16			4		0	0	1	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95481683	95481683	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:95481683G>A	uc010fhq.2	-	1	697	c.305C>T	c.(304-306)gCc>gTc	p.A102V	ANKRD20A2_uc010fhp.3_Non-coding_Transcript	NM_001012421	NP_001012421	Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A2 (ANKRD20A2), mRNA.	522										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						TCTGAGTATGGCAATATCTGC	0.294000														107			51		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122835992	122835992	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:122835992G>A	uc003ieg.2	-	3	1358	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	TRPC3_uc010inr.2_Intron|TRPC3_uc003ief.2_Silent_p.V355V|TRPC3_uc011cgl.1_Silent_p.V92V	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	343					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	p.R428S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCAGGGCCACGACCAGCACAA	0.537000														13			31		0	0	1	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4458201	4458201	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:4458201G>A	uc002fxz.4	-	1	311	c.249C>T	c.(247-249)gtC>gtT	p.V83V	MYBBP1A_uc002fyb.4_Silent_p.V83V	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	83	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NLS-dependent protein nuclear import complex|cytoplasm|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TTTCTCGCCCGACCCCGAGTC	0.597000														15			16		0	0	1	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21325643	21325643	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:21325643G>A	uc001req.4	+	2	248	c.144G>A	c.(142-144)atG>atA	p.M48I		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	48					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CAATTATTATGAAAAGTTCCA	0.348000														32			44		0	0	1	0	0
REM1	28954	broad.mit.edu	37	20	30064320	30064320	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:30064320C>T	uc002wwa.3	+	1	356	c.72C>T	c.(70-72)tcC>tcT	p.S24S		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	24					small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity|calmodulin binding			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGCCCCTGTCCCCACGGGGCC	0.647000														72			21		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445878	49445878	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:49445878G>A	uc001rta.4	-	9	1588	c.1588C>T	c.(1588-1590)Cct>Tct	p.P530S		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	530	15 X 5 AA repeats of S/P-P-P-E/P-E/A.|Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCAAGTGCAGGAGATGGGGGT	0.587000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				30			34		0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599661	136599661	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:136599661C>G	uc003qgx.1	-	3	611	c.358G>C	c.(358-360)Gtt>Ctt	p.V120L	BCLAF1_uc003qgy.1_Missense_Mutation_p.V118L|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.V118L|BCLAF1_uc003qgw.1_Missense_Mutation_p.V120L	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	120					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAGAAGAAACGGATCTTCTT	0.453000														173			31		0	0	1	0	0
GPR115	221393	broad.mit.edu	37	6	47682860	47682860	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:47682860G>A	uc003oyz.1	+	6	2050	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K	GPR115_uc003oza.1_Missense_Mutation_p.E627K|GPR115_uc003ozb.1_Missense_Mutation_p.E627K|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	627					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CACTCTCATAGAAGGCACTTC	0.458000														69			36		0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670049	158670049	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:158670049G>A	uc001fsu.1	-	0	394	c.394C>T	c.(394-396)Ccc>Tcc	p.P132S		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					ATGATAGAGGGATAATGAAGA	0.478000														55			23		0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712277	121712277	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:121712277C>T	uc003ees.3	-	6	1522	c.1319G>A	c.(1318-1320)aGg>aAg	p.R440K	ILDR1_uc003eeq.3_Missense_Mutation_p.R408K|ILDR1_uc003eer.3_Missense_Mutation_p.R396K|ILDR1_uc010hrg.3_Missense_Mutation_p.R351K	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	440	Arg-rich.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		ACAGCGGCTCCTGAAAGGAGG	0.667000														16			9		0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107491668	107491668	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:107491668C>T	uc010hpr.3	+	10	1427	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	BBX_uc003dwk.4_Missense_Mutation_p.S367F|BBX_uc003dwl.4_Intron|BBX_uc010hps.1_Missense_Mutation_p.S388F|BBX_uc003dwm.4_Missense_Mutation_p.S367F|BBX_uc003dwo.4_5'Flank	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.D366N(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TTAAGAGATTCTAAGGAATTG	0.313000														65			27		0	0	1	0	0
GFPT2	9945	broad.mit.edu	37	5	179745858	179745858	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:179745858G>A	uc003mlw.1	-	9	991	c.893C>T	c.(892-894)tCg>tTg	p.S298L		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	298					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	p.R297L(1)		breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	ATCACTGGCCGAGCGCTTGAC	0.577000														21			5		0	0	1	0	0
TAS1R1	80835	broad.mit.edu	37	1	6636587	6636587	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:6636587G>A	uc001ant.3	+	3	1469	c.1373G>A	c.(1372-1374)gGa>gAa	p.G458E	TAS1R1_uc001anu.3_Missense_Mutation_p.G204E|TAS1R1_uc021ofp.1_Intron	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	458					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GACTGGAATGGACCCAAGTGG	0.483000														85			30		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55929387	55929387	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:55929387G>A	uc003pcs.3	-	23	2393	c.2161C>T	c.(2161-2163)Cca>Tca	p.P721S	COL21A1_uc010jzz.3_Missense_Mutation_p.P106S|COL21A1_uc011dxg.2_Missense_Mutation_p.P94S|COL21A1_uc011dxh.2_Missense_Mutation_p.P106S|COL21A1_uc003pcr.3_Silent_p.F78F	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	721	Collagen-like 4.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGTTGCCCTGGAATTCCCTGT	0.323000														9			5		0	0	1	0	0
SGSH	6448	broad.mit.edu	37	17	78190938	78190938	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:78190938G>A	uc002jxz.4	-	1	229	c.142C>T	c.(142-144)Ccg>Tcg	p.P48S	SGSH_uc002jya.4_5'UTR|SGSH_uc002jxy.2_Missense_Mutation_p.P48S|SGSH_uc010wue.1_Silent_p.P59P	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	48					proteoglycan metabolic process	lysosome	N-sulfoglucosamine sulfohydrolase activity|metal ion binding|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCCAGGTGCGGGGTGGCGATG	0.667000														5			5		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122824207	122824207	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:122824207C>T	uc003ieg.2	-	8	2337	c.2263G>A	c.(2263-2265)Gat>Aat	p.D755N	TRPC3_uc010inr.2_Missense_Mutation_p.D627N|TRPC3_uc003ief.2_Missense_Mutation_p.D682N|TRPC3_uc011cgl.1_Missense_Mutation_p.D419N	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	670					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CATTCTACATCACTGTCATCC	0.313000														27			28		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227896870	227896870	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:227896870G>A	uc021vxr.1	-	37	3801	c.3700C>T	c.(3700-3702)Ccc>Tcc	p.P1234S	COL4A4_uc021vxs.1_Missense_Mutation_p.P1234S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1234	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTACCTGGGGGTCCTGGGGGA	0.507000														64			20		0	0	1	0	0
RNASE9	390443	broad.mit.edu	37	14	21025135	21025135	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr14:21025135C>T	uc010ahp.3	-	4	364	c.109G>A	c.(109-111)Gat>Aat	p.D37N	RNASE9_uc010aho.3_Missense_Mutation_p.D32N|RNASE9_uc001vxq.4_Missense_Mutation_p.D37N|RNASE9_uc010ahq.3_Missense_Mutation_p.D37N|RNASE9_uc010ahr.3_Missense_Mutation_p.D37N|RNASE9_uc010ahs.3_Missense_Mutation_p.D32N|RNASE9_uc010aht.3_Missense_Mutation_p.D32N|RNASE9_uc010ahu.3_Missense_Mutation_p.D32N|RNASE9_uc021rnt.1_Missense_Mutation_p.D32N	NM_001110359	NP_001103827	P60153	RNAS9_HUMAN	Homo sapiens ribonuclease, RNase A family, 9 (non-active) (RNASE9), transcript variant 1, mRNA.	32						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		AAATCAAAATCTGTATCCACC	0.438000														23			18		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66191069	66191069	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:66191069C>T	uc001ohx.1	+	5	1005	c.829C>T	c.(829-831)Cag>Tag	p.Q277*	NPAS4_uc010rpc.1_Nonsense_Mutation_p.Q67*	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	277					transcription, DNA-dependent		DNA binding|signal transducer activity	p.I276S(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						TGGAGATATTCAGGCAGAGAT	0.532000														34			21		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37506734	37506734	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:37506734G>A	uc021ppc.1	+	32	3126	c.3027G>A	c.(3025-3027)gtG>gtA	p.V1009V	ANKRD30A_uc001iza.1_Silent_p.V1009V	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1065						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGTTAGAAGTGAAACAACAAC	0.313000														16			16		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207697352	207697352	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:207697352G>A	uc001hfy.3	+	4	1024	c.884G>A	c.(883-885)aGg>aAg	p.R295K	CR1_uc009xcl.1_Missense_Mutation_p.R295K|CR1_uc001hfx.3_Missense_Mutation_p.R295K|CR1_uc021pij.1_Missense_Mutation_p.R295K|CR1_uc009xcj.1_Missense_Mutation_p.R295K|CR1_uc009xck.1_Missense_Mutation_p.R295K	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	295	Sushi 4.|Sushi 5.				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						AGCTGCTCCAGGGGTGAGTCT	0.567000														54			20		0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57012155	57012155	+	Silent	SNP	T	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:57012155T>C	uc003pdm.1	+	9	1496	c.1272T>C	c.(1270-1272)ttT>ttC	p.F424F	ZNF451_uc003pdl.3_Silent_p.F424F|ZNF451_uc003pdn.1_Silent_p.F424F|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.F424F	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AATCAAAATTTTCATCACTTA	0.358000														57			26		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79322840	79322840	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:79322840C>T	uc010mpk.3	-	7	4474	c.4350G>A	c.(4348-4350)atG>atA	p.M1450I	PRUNE2_uc022bih.1_Missense_Mutation_p.M1272I	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1450					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTGTGAAATTCATCCCATCTG	0.428000														43			26		0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2050499	2050499	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:2050499C>T	uc003wpx.4	+	20	2800	c.2662C>T	c.(2662-2664)Cgg>Tgg	p.R888W	MYOM2_uc011kwi.2_Missense_Mutation_p.R313W	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	888	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTTCAGGGTCCGGGCAGTCAA	0.502000														19			21		0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861712	52861712	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:52861712C>T	uc003gzi.3	-	3	1483	c.1476G>A	c.(1474-1476)ggG>ggA	p.G492G		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	492						integral to membrane		p.C491F(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CGGTGTTGTCCCCGCACTGTC	0.562000														43			53		0	0	1	0	0
X97876	0	broad.mit.edu	37	9	66499794	66499794	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:66499794C>T	uc004aee.1	+	0	604	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	X97876_uc004aed.1_Non-coding_Transcript					Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134).																		GTGCAAGTCGCGCAAGGAGCA	0.587000														31			4		0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50912809	50912809	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:50912809C>T	uc010eny.3	+	15	2119	c.2118C>T	c.(2116-2118)ccC>ccT	p.P706P	POLD1_uc002psb.4_Silent_p.P680P|POLD1_uc002psc.4_Silent_p.P680P|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	680					DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|DNA binding|DNA-directed DNA polymerase activity|chromatin binding|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		AGACAGACCCCCTCCGGCGCC	0.667000								DNA polymerases (catalytic subunits)						57			33		0	0	1	0	0
PRDM1	639	broad.mit.edu	37	6	106553562	106553562	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:106553562C>T	uc003prd.2	+	4	1761	c.1527C>T	c.(1525-1527)gcC>gcT	p.A509A	PRDM1_uc003pre.3_Silent_p.A375A	NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	509					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGACAAGGCCTGTAGCCCCA	0.672000			"""D, N, Mis, F, S"""		DLBCL									38			19		0	0	1	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54642858	54642858	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:54642858A>G	uc003jpy.4	+	10	1392	c.1126A>G	c.(1126-1128)Aaa>Gaa	p.K376E	SKIV2L2_uc011cqi.2_Missense_Mutation_p.K275E	NM_015360	NP_056175	P42285	SK2L2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like 2 (S. cerevisiae) (SKIV2L2), mRNA.	376					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				AAATGTTTTCAAAATTGTGAA	0.284000														37			11		0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119951009	119951009	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:119951009G>A	uc010inb.3	+	3	1275	c.1079G>A	c.(1078-1080)aGg>aAg	p.R360K	SYNPO2_uc010ina.3_Missense_Mutation_p.R360K|SYNPO2_uc003icm.4_Missense_Mutation_p.R360K|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.R288K|SYNPO2_uc021xrd.1_5'Flank	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	360						Z disc|nucleus	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGGCTCAGGAGGAGTGAAAGC	0.438000														44			52		0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114082716	114082716	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chrX:114082716C>T	uc004epu.1	+	4	1228	c.500C>T	c.(499-501)tCg>tTg	p.S167L	HTR2C_uc010nqc.1_Missense_Mutation_p.S167L|HTR2C_uc004epv.1_Intron	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	167					ERK1 and ERK2 cascade|cGMP biosynthetic process|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.S167L(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CGTTTCAATTCGCGGACTAAG	0.408000														22			27		0	0	1	0	0
ELF5	2001	broad.mit.edu	37	11	34502410	34502410	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:34502410G>A	uc001mvo.1	-	5	840	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W	ELF5_uc021qft.1_Missense_Mutation_p.R126W|ELF5_uc001mvp.2_Missense_Mutation_p.R194W|ELF5_uc009ykd.2_Missense_Mutation_p.R99W	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	204					cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TTAACCACCCGAAAAATTCCT	0.428000														76			29		0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29194636	29194636	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:29194636G>A	uc003xhm.3	-	3	1564	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	DUSP4_uc003xhl.3_Silent_p.F273F	NM_001394	NP_001385	Q13115	DUS4_HUMAN	Homo sapiens dual specificity phosphatase 4 (DUSP4), transcript variant 1, mRNA.	364	Tyrosine-protein phosphatase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|endoderm formation|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		AGCTGAAGACGAACTGCGAGG	0.701000														13			13		0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565318	58565318	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:58565318C>T	uc002qrc.1	+	5	1373	c.1126C>T	c.(1126-1128)Ccc>Tcc	p.P376S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	376					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCTCGCAGCCCCAAAAGACC	0.677000														9			6		0	0	1	0	0
LRRC27	80313	broad.mit.edu	37	10	134161711	134161711	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:134161711C>T	uc010quw.1	+	5	972	c.777C>T	c.(775-777)atC>atT	p.I259I	LRRC27_uc001llf.2_Silent_p.I259I|LRRC27_uc010quv.1_Silent_p.I259I|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.I259I|LRRC27_uc001llj.2_Silent_p.I197I|LRRC27_uc001llk.4_Silent_p.I132I	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	259										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AGGAGGAGATCAGGCGCTTTT	0.542000														25			20		0	0	1	0	0
EXOC7	23265	broad.mit.edu	37	17	74094054	74094054	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:74094054G>A	uc002jqs.3	-	4	558	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C	EXOC7_uc010dgv.2_Missense_Mutation_p.R102C|EXOC7_uc010wsv.2_Missense_Mutation_p.R114C|EXOC7_uc010wsw.2_Missense_Mutation_p.R155C|EXOC7_uc002jqq.3_Missense_Mutation_p.R155C|EXOC7_uc010wsx.2_Missense_Mutation_p.R155C|EXOC7_uc002jqr.3_Missense_Mutation_p.R155C|EXOC7_uc002jqu.2_Missense_Mutation_p.R155C	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	155					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			ATCAGGCTGCGAAATTCGGAC	0.582000														67			20		0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100553020	100553020	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:100553020C>T	uc003uxl.1	+	1	2165	c.1365C>T	c.(1363-1365)acC>acT	p.T455T	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCCCCAGCACCTTCTATGGTT	0.567000														67			10		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48699301	48699302	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:48699301_48699302GG>AA	uc003cuf.1	-	2	976_977	c.976_977CC>TT	c.(976-978)cct>TTt	p.P326F	CELSR3_uc003cul.3_Missense_Mutation_p.P256F	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	256	Cadherin 1.				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)		ACCTGATGCAGGAGCTGTCCTC	0.693000														49			22		0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234580650	234580650	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:234580650G>A	uc002vus.3	+	0	107	c.70G>A	c.(70-72)Gag>Aag	p.E24K	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.E24K	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	26					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGGCTTTGCCGAGGCAGGGAA	0.582000														47			11		0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12888448	12888448	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:12888448G>A	uc001auk.2	-	1	272	c.76C>T	c.(76-78)Ctg>Ttg	p.L26L		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	26										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGAGGCCTCAGAGGGAGGCGG	0.607000														57			23		0	0	1	0	0
FOXP1	27086	broad.mit.edu	37	3	71247495	71247495	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:71247495C>T	uc003dol.3	-	1	361	c.38G>A	c.(37-39)gGt>gAt	p.G13D	FOXP1_uc003dom.3_Missense_Mutation_p.G13D|FOXP1_uc003don.3_Non-coding_Transcript|FOXP1_uc021xan.1_Missense_Mutation_p.G13D|FOXP1_uc003doo.3_Missense_Mutation_p.G13D|FOXP1_uc003dop.3_Missense_Mutation_p.G13D|FOXP1_uc021xao.1_Missense_Mutation_p.G13D|FOXP1_uc003doq.1_Missense_Mutation_p.G13D|FOXP1_uc003dos.3_Missense_Mutation_p.G13D	NM_001244814	NP_001231743	Q9H334	FOXP1_HUMAN	Homo sapiens forkhead box P1 (FOXP1), transcript variant 7, mRNA.	13					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		GATGGCTGAACCGTTACTTTT	0.552000			T	PAX5	ALL									105			26		0	0	1	0	0
C7orf65	401335	broad.mit.edu	37	7	47698748	47698748	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:47698748G>A	uc010kyp.1	+	2	413	c.378G>A	c.(376-378)tgG>tgA	p.W126*		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	126										endometrium(1)|lung(2)	3						CTGACCCCTGGAAGGATGCTC	0.547000														102			22		0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36278332	36278332	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:36278332C>T	uc002obs.2	+	20	2526	c.2382C>T	c.(2380-2382)tcC>tcT	p.S794S	ARHGAP33_uc002obt.2_Silent_p.S819S|ARHGAP33_uc002obv.1_Silent_p.S543S	NM_052948	NP_443180	O14559	RHG33_HUMAN	Homo sapiens Rho GTPase activating protein 33 (ARHGAP33), transcript variant 1, mRNA.	881					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTCCCAACTCCCTAGCACACC	0.682000														12			6		0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189590736	189590736	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:189590736C>T	uc003fry.2	+	9	1390	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	TP63_uc003frx.2_Missense_Mutation_p.T434M|TP63_uc003frz.2_Missense_Mutation_p.T434M|TP63_uc010hzc.1_Missense_Mutation_p.T434M|TP63_uc003fsa.2_Missense_Mutation_p.T340M|TP63_uc003fsb.2_Missense_Mutation_p.T340M|TP63_uc003fsc.2_Missense_Mutation_p.T340M|TP63_uc003fsd.2_Missense_Mutation_p.T340M|TP63_uc021xir.1_Missense_Mutation_p.T340M|TP63_uc010hzd.1_Missense_Mutation_p.T255M	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	434	Oligomerization.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACAATTGAAACGTACAGGCAA	0.463000										HNSCC(45;0.13)				66			27		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	A	A	rs7266938	by1000genomes	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:29625877G>A	uc010ztl.1	+	1	63	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.A41T(2)|p.T10T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000														101			7		0	0	1	0	0
CYP2C19	1557	broad.mit.edu	37	10	96484232	96484232	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:96484232C>T	uc001kjv.4	+	6	1417	c.1091C>T	c.(1090-1092)aCc>aTc	p.T364I	CYP2C19_uc001kjw.4_Missense_Mutation_p.T305I|CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	364					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CTCCTCCCCACCAACCTGCCC	0.507000														49			39		0	0	1	0	0
COL2A1	1280	broad.mit.edu	37	12	48379519	48379519	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:48379519C>T	uc001rqu.3	-	24	1853	c.1672G>A	c.(1672-1674)Gga>Aga	p.G558R	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.G489R	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	558	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	ACCCGGGCTCCAGGAAGGCCA	0.657000														15			17		0	0	1	0	0
EHMT1	79813	broad.mit.edu	37	9	140711972	140711972	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:140711972C>T	uc011mfc.2	+	23	3493	c.3456C>T	c.(3454-3456)gtC>gtT	p.V1152V	EHMT1_uc004coe.3_Silent_p.V57V	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	1152	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GCACCTTTGTCTGCGAGTGAG	0.612000														33			14		0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801846	185801846	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:185801846G>A	uc002uph.3	+	3	2317	c.1723G>A	c.(1723-1725)Gaa>Aaa	p.E575K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	575						intracellular	zinc ion binding	p.E575K(2)|p.D574Y(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTCTAGATGAAAAATACAA	0.299000														45			16		0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141459298	141459298	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:141459298C>T	uc002tvj.1	-	39	7391	c.6419G>A	c.(6418-6420)aGa>aAa	p.R2140K		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2140					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACCTTTCTCTCTTACTCGGTT	0.358000										TSP Lung(27;0.18)				43			18		0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8612264	8612264	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:8612264A>C	uc001qum.1	+	2	310	c.193A>C	c.(193-195)Acc>Ccc	p.T65P		NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN	Homo sapiens C-type lectin domain family 6, member A (CLEC6A), mRNA.	65					defense response to fungus|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of cytokine secretion	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TTCAAGTCTCACCTGCTTCAG	0.393000														32			45		0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87660079	87660079	+	Missense_Mutation	SNP	A	G	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:87660079A>G	uc003ydx.3	-	7	988	c.940T>C	c.(940-942)Tac>Cac	p.Y314H	CNGB3_uc010maj.3_Missense_Mutation_p.Y176H	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	314					signal transduction|visual perception	integral to membrane	cGMP binding	p.C313*(1)		NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AAGAAGAGGTAGCAAATATCA	0.313000														88			58		0	0	1	0	0
CENPC1	1060	broad.mit.edu	37	4	68380275	68380275	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:68380275G>A	uc003hdd.1	-	7	1144	c.961C>T	c.(961-963)Cca>Tca	p.P321S	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.P321S	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	321					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						GCCTTTCTTGGTATTGTAATC	0.413000														8			16		0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555305	35555305	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:35555305C>T	uc003zww.3	+	2	2518	c.2263C>T	c.(2263-2265)Ccc>Tcc	p.P755S	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.P755S	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	755						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCATCCACTCCCCGAGCCAC	0.672000														26			30		0	0	1	0	0
UNC5D	137970	broad.mit.edu	37	8	35579907	35579907	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:35579907C>T	uc003xjr.2	+	8	1625	c.1297C>T	c.(1297-1299)Cgt>Tgt	p.R433C	UNC5D_uc003xjs.2_Missense_Mutation_p.R428C|UNC5D_uc003xju.2_5'Flank|UNC5D_uc003xjt.1_Missense_Mutation_p.R191C	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	433					apoptosis|axon guidance	integral to membrane	receptor activity	p.R428S(1)|p.L433L(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CAAAACAGTCCGTCAAGGTCA	0.547000														76			69		0	0	1	0	0
KIAA1383	54627	broad.mit.edu	37	1	232943052	232943052	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:232943052G>A	uc001hvh.2	+	0	2415	c.2283G>A	c.(2281-2283)gtG>gtA	p.V761V		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	619	Ser-rich.									breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				AAGAAGTTGTGAGTCCTGCAA	0.348000														77			28		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156510631	156510631	+	Missense_Mutation	SNP	C	G	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:156510631C>G	uc001fpf.3	-	22	2683	c.2608G>C	c.(2608-2610)Gct>Cct	p.A870P		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	870					small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTGCCTCAGCCAAGAAGTCT	0.537000														45			27		0	0	1	0	0
CCBL1	883	broad.mit.edu	37	9	131600340	131600340	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:131600340G>A	uc004bwh.3	-	4	613	c.428C>T	c.(427-429)tCc>tTc	p.S143F	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Missense_Mutation_p.S143F|CCBL1_uc004bwj.3_Missense_Mutation_p.S93F|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Missense_Mutation_p.S237F	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	143					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CGGCTTCAGGGACACAAACAC	0.522000														120			43		0	0	1	0	0
SLC35A5	55032	broad.mit.edu	37	3	112289504	112289504	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:112289504C>T	uc003dze.3	+	3	592	c.347C>T	c.(346-348)tCc>tTc	p.S116F		NM_017945	NP_060415	Q9BS91	S35A5_HUMAN	Homo sapiens solute carrier family 35, member A5 (SLC35A5), mRNA.	116						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity|sugar:hydrogen symporter activity			endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|skin(1)	11						TATGTCCTGTCCTATCTTCAA	0.318000														53			21		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153085289	153085289	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:153085289C>T	uc011dcy.2	+	10	1542	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	GRIA1_uc003lva.4_Silent_p.I495I|GRIA1_uc003luy.4_Silent_p.I495I|GRIA1_uc003luz.4_Silent_p.I400I|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.I415I|GRIA1_uc011dcx.2_Silent_p.I426I|GRIA1_uc011dcz.2_Silent_p.I505I|GRIA1_uc010jia.1_Silent_p.I475I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	495					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I495fs*19(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTTAACTATCACTTTGGTCC	0.383000														42			16		0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129233370	129233371	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:129233370_129233371CC>TT	uc003eml.3	+	25	3485_3486	c.3279_3280CC>TT	c.(3277-3282)atccgc>atTTgc	p.R1094C	IFT122_uc003emm.3_Missense_Mutation_p.R1043C|IFT122_uc003emn.3_Missense_Mutation_p.R984C|IFT122_uc003emo.3_Missense_Mutation_p.R933C|IFT122_uc003emp.3_Missense_Mutation_p.R893C|IFT122_uc010htc.3_Missense_Mutation_p.R1036C|IFT122_uc011bky.2_Missense_Mutation_p.R834C|IFT122_uc011bla.2_Missense_Mutation_p.R817C|IFT122_uc003emr.3_Missense_Mutation_p.R796C|IFT122_uc010hte.3_Missense_Mutation_p.R369C|IFT122_uc003ems.3_Missense_Mutation_p.R425C	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	1043					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCCTGACCATCCGCGCCAAGCC	0.609000														65			21		0	0	1	0	0
OR5M9	390162	broad.mit.edu	37	11	56229951	56229951	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:56229951C>T	uc010rjj.2	-	0	927	c.927G>A	c.(925-927)agG>agA	p.R309R	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V308A(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					AGTTTTACTGCCTCACATATG	0.368000														30			28		0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12983362	12983362	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:12983362G>A	uc003bxt.2	-	1	78	c.69C>T	c.(67-69)gtC>gtT	p.V23V	IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Silent_p.V9V	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	23					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCTCGCCCTCGACGCTGCAGA	0.667000														5			4		0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351246	10351246	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:10351246G>A	uc002gmn.3	-	33	4965	c.4854C>T	c.(4852-4854)atC>atT	p.I1618I	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1618					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTTCTTCTTGATCCTCAGAG	0.463000														104			34		0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84373227	84373227	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:84373227G>A	uc002bjz.4	+	2	380	c.156G>A	c.(154-156)ggG>ggA	p.G52G	ADAMTSL3_uc002bjy.1_Silent_p.G52G|ADAMTSL3_uc010bmt.1_Silent_p.G52G	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	52						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)			ACACAACAGGGGAGCAGTTCC	0.463000														113			104		0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11332367	11332367	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:11332367G>A	uc002rbd.1	-	31	4519	c.4070C>T	c.(4069-4071)cCt>cTt	p.P1357L		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1357					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	p.P1357P(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCGGGCAAAAGGGTCTGGAGC	0.438000														104			40		0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156482347	156482347	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr5:156482347C>T	uc010jij.1	-	2	429	c.244G>A	c.(244-246)Gac>Aac	p.D82N	HAVCR1_uc011ddl.1_5'Flank|HAVCR1_uc003lwi.2_Missense_Mutation_p.D82N|HAVCR1_uc021ygj.1_Missense_Mutation_p.D82N|HAVCR1_uc021ygk.1_5'Flank|HAVCR1_uc011ddm.2_Missense_Mutation_p.D82N	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	82	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGAAAGGTCCCCCAATAGC	0.473000														35			24		0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100489719	100489719	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:100489719C>T	uc003dun.3	-	28	2561	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K	ABI3BP_uc003duj.3_Missense_Mutation_p.E406K|ABI3BP_uc003duk.3_Missense_Mutation_p.E535K|ABI3BP_uc003dul.3_Missense_Mutation_p.E656K|ABI3BP_uc011bhd.2_Missense_Mutation_p.E780K|ABI3BP_uc003dum.3_Missense_Mutation_p.E237K	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	826						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTGGCCTCCTCTTTGGGGAAC	0.557000														61			26		0	0	1	0	0
CRYBA2	1412	broad.mit.edu	37	2	219857884	219857884	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:219857884G>A	uc002vjj.1	-	1	50	c.15C>T	c.(13-15)ccC>ccT	p.P5P	CRYBA2_uc002vjk.1_Silent_p.P5P	NM_057094	NP_476435	P53672	CRBA2_HUMAN	Homo sapiens crystallin, beta A2 (CRYBA2), transcript variant 3, mRNA.	5	N-terminal arm.						structural constituent of eye lens			endometrium(1)|lung(3)|prostate(1)	5		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ggcccggcgcgggggcgcTGC	0.706000														10			8		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121490524	121490524	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:121490524G>A	uc001pxx.3	+	42	5916	c.5787G>A	c.(5785-5787)ccG>ccA	p.P1929P	SORL1_uc010rzp.1_Silent_p.P775P|SORL1_uc010rzq.1_Silent_p.P544P	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1929					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATGATCCCGGACAGCAGGC	0.532000														25			25		0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167133616	167133616	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:167133616G>A	uc010fpl.3	-	15	3059	c.2718C>T	c.(2716-2718)ttC>ttT	p.F906F	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	917						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACACAATCAGGAAGGAGTGGA	0.493000														127			68		0	0	1	0	0
GBP7	388646	broad.mit.edu	37	1	89637521	89637521	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:89637521G>A	uc001dna.2	-	1	237	c.98C>T	c.(97-99)gCc>gTc	p.A33V		NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	33						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTGTGTAATGGCAGACAGGAT	0.512000														87			30		0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	137988803	137988803	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:137988803A>C	uc002tva.1	+	6	1820	c.1820A>C	c.(1819-1821)gAa>gCa	p.E607A	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E497A	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)		CTGGCTGGGGAAGGTGAGTAA	0.423000														11			3		0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49724853	49724853	+	Silent	SNP	C	G	G			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:49724853C>G	uc003cxg.3	-	3	486	c.414G>C	c.(412-414)acG>acC	p.T138T	MST1_uc011bcs.1_Silent_p.T138T|MST1_uc010hkx.2_Silent_p.T59T|MST1_uc011bct.1_Silent_p.T138T|MST1_uc011bcu.1_Intron|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	124	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACCCACGGTCGTGGCCATGG	0.607000														52			16		0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18096193	18096193	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:18096193C>T	uc002nht.3	+	5	1300	c.990C>T	c.(988-990)tcC>tcT	p.S330S	KCNN1_uc010xqa.1_Silent_p.S330S	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	330					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						CCTTCCTCTCCATTGGCTACG	0.587000														13			4		0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121461713	121461713	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:121461713C>T	uc001pxx.3	+	30	4346	c.4217C>T	c.(4216-4218)tCa>tTa	p.S1406L	SORL1_uc010rzp.1_Missense_Mutation_p.S252L|SORL1_uc010rzq.1_Missense_Mutation_p.S21L	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1406					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTCTCAGATTCACATATTCTT	0.507000											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		103			61		0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227906897	227906897	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:227906897C>T	uc021vxr.1	-	35	3573	c.3472G>A	c.(3472-3474)Gat>Aat	p.D1158N	COL4A4_uc021vxs.1_Missense_Mutation_p.D1158N	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1158	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATCCCTGGATCCCCCTGGAGG	0.542000														44			15		0	0	1	0	0
CAPN5	726	broad.mit.edu	37	11	76796030	76796030	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:76796030C>T	uc009yup.3	+	1	283	c.98C>T	c.(97-99)cCc>cTc	p.P33L	CAPN5_uc001oxx.3_Missense_Mutation_p.P33L|CAPN5_uc009yuq.3_Missense_Mutation_p.P69L|CAPN5_uc001oxy.3_Missense_Mutation_p.P73L	NM_004055	NP_004046	O15484	CAN5_HUMAN	Homo sapiens calpain 5 (CAPN5), mRNA.	33	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CCCCTCTTCCCCGCCACTGAC	0.632000														11			8		0	0	1	0	0
VPS33A	65082	broad.mit.edu	37	12	122748207	122748207	+	Missense_Mutation	SNP	G	A	A	rs150472752		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:122748207G>A	uc001ucd.3	-	2	321	c.208C>T	c.(208-210)Cgt>Tgt	p.R70C	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	70					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding	p.R70C(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GCCGGCAAACGATTTCCTTTA	0.373000														17			21		0	0	1	0	0
AGBL2	79841	broad.mit.edu	37	11	47712109	47712109	+	Missense_Mutation	SNP	G	A	A	rs113540514	byFrequency	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:47712109G>A	uc001ngg.3	-	9	1452	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	AGBL2_uc001ngf.3_Non-coding_Transcript|AGBL2_uc010rhq.1_Missense_Mutation_p.P346S|AGBL2_uc001ngh.1_Missense_Mutation_p.P328S	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	384					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TGGTCATATGGAAACTGAATG	0.458000														91			36		0	0	1	0	0
TMEM199	147007	broad.mit.edu	37	17	26684704	26684704	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:26684704C>T	uc010wah.1	+	0	18	c.11C>T	c.(10-12)tCt>tTt	p.S4F	POLDIP2_uc002haz.3_5'Flank|POLDIP2_uc010wag.2_5'Flank|TMEM199_uc002hba.3_Missense_Mutation_p.S4F|MIR4723_uc021ttq.1_5'Flank	NM_152464	NP_689677	Q8N511	TM199_HUMAN	Homo sapiens transmembrane protein 199 (TMEM199), mRNA.	4						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		ATGGCGTCCTCTTTGCTTGCG	0.687000														58			17		0	0	1	0	0
CYTH2	9266	broad.mit.edu	37	19	48981728	48981728	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:48981728G>A	uc002pjj.4	+	10	1291	c.991G>A	c.(991-993)Ggg>Agg	p.G331R		NM_017457	NP_059431	Q99418	CYH2_HUMAN	Homo sapiens cytohesin 2 (CYTH2), transcript variant 1, mRNA.	332	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CAACAACAAGGGGCAGCTCAT	0.612000														55			20		0	0	1	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799751	159799751	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr1:159799751C>T	uc001fue.4	+	1	346	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	46						integral to membrane		p.R46S(2)		endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTTCCAAGTCCGTGAGGCTAT	0.607000														115			40		0	0	1	0	0
TRAM2	9697	broad.mit.edu	37	6	52373036	52373036	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:52373036C>T	uc003paq.3	-	5	700	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_5'Flank	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.	184	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					ACTCACCTTCCGTACCTTCTG	0.537000														19			8		0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					45			57		0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179439595	179439596	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:179439595_179439596CC>TT	uc021vsy.1	-	274	63784_63785	c.63559_63560GG>AA	c.(63559-63561)ggt>AAt	p.G21187N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G14882N|TTN_uc021vta.1_Missense_Mutation_p.G14815N|TTN_uc021vtb.1_Missense_Mutation_p.G14690N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22114	Fibronectin type-III 53.						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)			TGGTACACCACCATCGTTCTCA	0.450000														31			7		0	0	1	0	0
HTT	3064	broad.mit.edu	37	4	3210517	3210518	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:3210517_3210518CC>TT	uc021xkv.1	+	45	6315_6316	c.6170_6171CC>TT	c.(6169-6171)tcc>tTT	p.S2057F		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	2057					Golgi organization|establishment of mitotic spindle orientation|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	Golgi apparatus|autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGGCTCTATTCCCTGCTGGACA	0.431000														22			22		0	0	1	0	0
CCDC87	55231	broad.mit.edu	37	11	66357991	66357991	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:66357991G>A	uc001oiq.4	-	0	2564	c.2496C>T	c.(2494-2496)gcC>gcT	p.A832A	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	832										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCCTTCAGGGCCGAGACCA	0.582000														71			52		0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13860502	13860502	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:13860502C>T	uc003bye.1	-	3	1294	c.989G>A	c.(988-990)tGg>tAg	p.W330*		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	330					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATAGCAGCACCAGTGGAACTT	0.612000														28			13		0	0	1	0	0
AKD1	221264	broad.mit.edu	37	6	109867206	109867206	+	Missense_Mutation	SNP	A	C	C			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:109867206A>C	uc003ptn.2	-	25	3166	c.3089T>G	c.(3088-3090)cTa>cGa	p.L1030R	AKD1_uc011eat.1_Missense_Mutation_p.L109R	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1030					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TTTGAGTAGTAGTTTTTCTTG	0.418000														48			15		0	0	1	0	0
LCT	3938	broad.mit.edu	37	2	136545942	136545942	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:136545942C>T	uc002tuu.1	-	16	5747	c.5736G>A	c.(5734-5736)ggG>ggA	p.G1912G		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1912					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTGTGTTTTCCCTTGCTTAG	0.448000														161			78		0	0	1	0	0
VPS37B	79720	broad.mit.edu	37	12	123351825	123351825	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr12:123351825G>A	uc001udl.3	-	3	799	c.696C>T	c.(694-696)gcC>gcT	p.A232A		NM_024667	NP_078943	Q9H9H4	VP37B_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog B (S. cerevisiae) (VPS37B), mRNA.	232	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		GGTACGGCACGGCCTGTCCCG	0.687000														3			12		0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43498698	43498698	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr15:43498698C>T	uc001zrb.4	-	9	1838	c.1538G>A	c.(1537-1539)aGc>aAc	p.S513N	EPB42_uc001zqz.4_Missense_Mutation_p.S150N|EPB42_uc001zra.4_Missense_Mutation_p.S483N|EPB42_uc010udm.2_Missense_Mutation_p.S405N	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	483					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GGGTAGGGAGCTGGGTGCTTT	0.552000														104			36		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9090539	9090539	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:9090539C>T	uc002mkp.3	-	0	1480	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	426	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						GTTTCCTTTCCACTCGTGGAG	0.512000														62			17		0	0	1	0	0
CBFA2T3	863	broad.mit.edu	37	16	88952473	88952473	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr16:88952473G>A	uc002fmm.2	-	5	1078	c.789C>T	c.(787-789)gcC>gcT	p.A263A	CBFA2T3_uc002fml.2_Silent_p.A177A|CBFA2T3_uc010cif.1_Silent_p.A202A|CBFA2T3_uc002fmn.2_Silent_p.A238A	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	263	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GCTCATGCTGGGCCAAGTACT	0.667000			T	RUNX1	AML									4			3		0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735333	55735333	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr11:55735333G>A	uc010rit.2	-	0	607	c.607C>T	c.(607-609)Ctg>Ttg	p.L203L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L203L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					ACAATCAACAGAAATGGCACC	0.423000														17			13		0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57325501	57325501	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr19:57325501C>T	uc002qnu.2	-	6	4660	c.4309G>A	c.(4309-4311)Gga>Aga	p.G1437R	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_Missense_Mutation_p.G1408R|PEG3_uc002qnv.2_Missense_Mutation_p.G1437R|PEG3_uc002qnw.2_Missense_Mutation_p.G1313R|PEG3_uc002qnx.2_Missense_Mutation_p.G1311R|PEG3_uc010etr.2_Missense_Mutation_p.G1437R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1437	4 X 5 AA repeat of P-X-G-E-A.|Glu-rich.				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)		TTTGGCTGTCCAGCCTCTCCA	0.587000														63			22		0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748665	96748665	+	Silent	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:96748665C>T	uc001kka.4	+	8	1378	c.1353C>T	c.(1351-1353)tcC>tcT	p.S451S	CYP2C9_uc009xut.3_Silent_p.S449S	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	451					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCCTGACCTCCATTTTACAGA	0.478000														41			33		0	0	1	0	0
MAD1L1	8379	broad.mit.edu	37	7	2255796	2255796	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr7:2255796G>A	uc003slh.1	-	7	1071	c.805C>T	c.(805-807)Ctg>Ttg	p.L269L	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.L269L|MAD1L1_uc003slg.1_Silent_p.L269L|MAD1L1_uc010ksh.1_Silent_p.L269L|MAD1L1_uc003sli.1_Silent_p.L177L|MAD1L1_uc010ksi.1_Silent_p.L222L|MAD1L1_uc010ksj.3_Silent_p.L269L	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	269					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding	p.L269L(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCTCACCGCAGGTGCGCGCTC	0.642000														45			65		0	0	1	0	0
TMEM2	23670	broad.mit.edu	37	9	74300161	74300161	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:74300161G>A	uc011lsa.1	-	23	4644	c.4104C>T	c.(4102-4104)gtC>gtT	p.V1368V	TMEM2_uc011lrz.1_Silent_p.V361V|TMEM2_uc010mos.2_Silent_p.V1305V|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Silent_p.V202V	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1368						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTCTTCTGCGGACAGTGGTGG	0.453000														45			26		0	0	1	0	0
C18orf8	29919	broad.mit.edu	37	18	21083647	21083647	+	Missense_Mutation	SNP	C	T	T	rs112277818	byFrequency	TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr18:21083647C>T	uc021uie.1	+	0	186	c.65C>T	c.(64-66)cCt>cTt	p.P22L	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Missense_Mutation_p.P22L|C18orf8_uc010xaw.1_5'UTR	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	22										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGCGAACCCTGTCAACTGC	0.746000														21			6		0	0	1	0	0
AGBL5	60509	broad.mit.edu	37	2	27276415	27276415	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr2:27276415C>T	uc002rie.3	+	2	578	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	AGBL5_uc002rid.3_Missense_Mutation_p.R121C|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	121					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGCTGGGAACGCATTCGAGA	0.502000														56			19		0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50721178	50721178	+	Silent	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr22:50721178G>A	uc003bkv.4	-	17	3042	c.2949C>T	c.(2947-2949)ccC>ccT	p.P983P	PLXNB2_uc003bkt.1_5'Flank|PLXNB2_uc003bku.1_5'Flank	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	983	IPT/TIG 3.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTCGCAGTACGGGGTTTTCGC	0.682000														8			5		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40733211	40733211	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr20:40733211G>A	uc002xkg.3	-	24	3722	c.3538C>T	c.(3538-3540)Cag>Tag	p.Q1180*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.Q1199*|PTPRT_uc010ggi.3_Nonsense_Mutation_p.Q383*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1180	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.S1180F(1)|p.Q1202K(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)				GCTCATACCTGAAATTCATCT	0.443000														48			27		0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173998845	173998845	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr3:173998845C>T	uc021xhm.1	+	6	2664	c.2344C>T	c.(2344-2346)Cat>Tat	p.H782Y	NLGN1_uc003fio.1_Missense_Mutation_p.H742Y|NLGN1_uc003fip.1_Missense_Mutation_p.H742Y	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	759					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of N-methyl-D-aspartate selective glutamate receptor activity|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGATTTGGATCATGAATGTGA	0.488000														50			9		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	96068343	96068343	+	Nonsense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr10:96068343C>T	uc001kjk.3	+	26	6524	c.5890C>T	c.(5890-5892)Cga>Tga	p.R1964*	PLCE1_uc010qnx.2_Nonsense_Mutation_p.R1948*|PLCE1_uc001kjm.3_Nonsense_Mutation_p.R1656*|PLCE1_uc001kjp.3_Nonsense_Mutation_p.R322*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	1964					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)				TCCAGGATATCGACATCTTCA	0.403000														50			31		0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185340707	185340707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:185340707G>A	uc003iwf.4	-	2	303	c.103C>T	c.(103-105)Cag>Tag	p.Q35*		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	35					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTC	0.423000														22			25		0	0	1	0	0
SYTL3	94120	broad.mit.edu	37	6	159103998	159103998	+	Missense_Mutation	SNP	G	A	A			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:159103998G>A	uc003qrp.3	+	6	770	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	SYTL3_uc003qrr.3_Missense_Mutation_p.R124Q|SYTL3_uc003qro.3_Missense_Mutation_p.R124Q|SYTL3_uc003qrs.3_Missense_Mutation_p.R124Q|SYTL3_uc011efq.2_Missense_Mutation_p.E4K	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	124					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		TATGAGGAACGAGCCAAGAAA	0.313000														29			16		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140901268	140901268	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr9:140901268C>T	uc004cog.3	+	15	2169	c.2024C>T	c.(2023-2025)tCg>tTg	p.S675L	CACNA1B_uc022bqn.1_Missense_Mutation_p.S675L|CACNA1B_uc011mfd.2_Missense_Mutation_p.S277L	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	675					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.E674K(1)		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)	GGGATCGAATCGCAAGGCGGC	0.572000														18			7		0	0	1	0	0
TJAP1	93643	broad.mit.edu	37	6	43473343	43473343	+	Missense_Mutation	SNP	C	T	T			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr6:43473343C>T	uc003ovd.2	+	10	1800	c.1424C>T	c.(1423-1425)cCt>cTt	p.P475L	TJAP1_uc003ovf.2_Missense_Mutation_p.P465L|TJAP1_uc003ove.2_Missense_Mutation_p.P465L|TJAP1_uc003ovc.2_Missense_Mutation_p.P465L|TJAP1_uc010jyp.2_Missense_Mutation_p.P434L|TJAP1_uc011dvh.1_Missense_Mutation_p.P465L|TJAP1_uc003ovg.2_Missense_Mutation_p.P341L|TJAP1_uc011dvi.1_Missense_Mutation_p.P475L|TJAP1_uc011dvj.2_Missense_Mutation_p.P275L|TJAP1_uc003ovi.2_Missense_Mutation_p.P341L	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	475						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCCACAGAACCTGACTCTGGC	0.587000														66			25		0	0	1	0	0
GRXCR1	389207	broad.mit.edu	37	4	42965114	42965114	+	Frame_Shift_Del	DEL	C	-	-			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr4:42965114delC	uc003gwt.3	+	1	591	c.590delC	c.(589-591)tccfs	p.S197fs		NM_001080476	NP_001073945	A8MXD5	GRCR1_HUMAN	Homo sapiens glutaredoxin, cysteine rich 1 (GRXCR1), mRNA.	197	Glutaredoxin.				cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development	kinocilium|stereocilium	electron carrier activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						GAAGCTCCTTCCCTCCCTGTT	0.433													---	383	---	---	7	---					
PABPC1	26986	broad.mit.edu	37	8	101721933	101721933	+	Frame_Shift_Del	DEL	T	-	-	rs112966887		TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr8:101721933delT	uc003yjs.1	-	7	1503	c.999delA	c.(997-999)aaafs	p.K333fs	PABPC1_uc011lhc.1_Frame_Shift_Del_p.K301fs|PABPC1_uc011lhd.1_Frame_Shift_Del_p.K288fs|PABPC1_uc003yjt.1_Frame_Shift_Del_p.K330fs|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	333	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AACCAAACCCTTTGCTGCGAC	0.383													---	88	---	---	8	---					
GGA3	23163	broad.mit.edu	37	17	73237732	73237749	+	In_Frame_Del	DEL	GTTTAAATAAAGTCCGCC	-	-			TCGA-FS-A1Z7-06A-11D-A197-08	TCGA-FS-A1Z7-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e9437fc-e962-4b90-845b-6ff5d042e070	b9f08a06-425d-4120-9708-498abc05c146	g.chr17:73237732_73237749delGTTTAAATAAAGTCCGCC	uc002jni.2	-	8	815_832	c.776_793delGGCGGACTTTATTTAAAC	c.(775-795)aggcggactttatttaaactc>atc	p.259_265RRTLFKL>I	GGA3_uc002jnk.2_In_Frame_Del_p.187_193RRTLFKL>I|GGA3_uc002jnj.2_In_Frame_Del_p.226_232RRTLFKL>I|GGA3_uc010wry.2_In_Frame_Del_p.187_193RRTLFKL>I|GGA3_uc010wrw.2_In_Frame_Del_p.137_143RRTLFKL>I|GGA3_uc010wrx.2_In_Frame_Del_p.137_143RRTLFKL>I|GGA3_uc010wrz.2_3'UTR	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	259	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			TCACTGGCGAGTTTAAATAAAGTCCGCCTCTTGTTCTC	0.454													---	435	---	---	7	---					
