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
FLNB	2317	broad.mit.edu	37	3	58080624	58080624	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:58080624C>T	uc003djj.2	+	4	1014	c.849C>T	c.(847-849)agC>agT	p.S283S	FLNB_uc010hne.2_Silent_p.S283S|FLNB_uc003djk.2_Silent_p.S283S|FLNB_uc010hnf.2_Silent_p.S283S|FLNB_uc003djl.2_Silent_p.S114S|FLNB_uc003djm.2_Silent_p.S114S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	283					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACACCATCAGCGCCGGGCAAG	0.542000														100			41		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055202	62055202	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055202G>A	uc002eog.2	-	1	1061	c.106C>T	c.(106-108)Caa>Taa	p.Q36*		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	36					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTAAAACTTGAGACTGATTC	0.428000														22			8		0	0	1	0	0
MAK16	84549	broad.mit.edu	37	8	33356082	33356082	+	Silent	SNP	C	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:33356082C>A	uc003xjj.3	+	9	878	c.838C>A	c.(838-840)Cga>Aga	p.R280R	TTI2_uc010lvu.1_Intron	NM_032509	NP_115898	Q9BXY0	MAK16_HUMAN	Homo sapiens MAK16 homolog (S. cerevisiae) (MAK16), mRNA.	280						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GCAGAGAAAACGAGCCTATGT	0.483000														56			17		1.99824e-07	1.99824e-07	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186670853	186670853	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:186670853G>A	uc002upl.3	+	16	17087	c.17087G>A	c.(17086-17088)gGc>gAc	p.G5696D	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTGAAATAGGCTATAAAAAG	0.328000														27			10		0	0	1	0	0
NTN3	4917	broad.mit.edu	37	16	2522817	2522817	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:2522817C>T	uc002cqj.3	+	1	1247	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R	TBC1D24_uc002cql.3_5'Flank|TBC1D24_uc002cqk.3_5'Flank	NM_006181	NP_006172	O00634	NET3_HUMAN	Homo sapiens netrin 3 (NTN3), mRNA.	348	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CCGCCGGCCGCCACTGCCACT	0.701000														11			17		0	0	1	0	0
ZNF492	57615	broad.mit.edu	37	19	22847685	22847685	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:22847685C>T	uc002nqw.3	+	3	1458	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTTAACCTATCGTCACAACTT	0.383000														49			8		0	0	1	0	0
ARSG	22901	broad.mit.edu	37	17	66391215	66391215	+	Splice_Site	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:66391215G>A	uc002jhc.2	+	10	1888	c.1092_splice	c.e10-1	p.S364_splice	TRNA_Und_uc021uce.1_5'Flank	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	364					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCCGCAGCGTGCTGGACAT	0.597000														26			16		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155450785	155450785	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:155450785G>A	uc003qqb.3	+	5	1701	c.428G>A	c.(427-429)aGg>aAg	p.R143K	TIAM2_uc003qqe.3_Missense_Mutation_p.R143K	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	143					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCTACGGGAGGAATGAGAGC	0.567000														25			14		0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145579961	145579961	+	Silent	SNP	G	A	A	rs146735069		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:145579961G>A	uc003ijs.2	+	2	1172	c.492G>A	c.(490-492)gcG>gcA	p.A164A	HHIP_uc003ijr.2_Silent_p.A164A	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	164						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAACAACTGCGGATGAGTTTT	0.358000														35			10		0	0	1	0	0
LOC100507433	100507433	broad.mit.edu	37	19	38103617	38103617	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:38103617G>A	uc002ogq.3	+	4	1803	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	LOC100507433_uc002ogu.3_Missense_Mutation_p.R479H|LOC100507433_uc010efq.3_Missense_Mutation_p.R447H	NM_152606	NP_689819			Homo sapiens zinc finger protein 540 (ZNF540), transcript variant 2, mRNA.																		TTTCGAGTTCGTTCTCAAATT	0.398000														44			17		0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60483969	60483969	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:60483969C>T	uc010wpc.2	+	8	844	c.773C>T	c.(772-774)gCt>gTt	p.A258V	EFCAB3_uc002izu.2_Missense_Mutation_p.A206V	NM_001144933	NP_001138405	Q8N7B9	EFCB3_HUMAN	Homo sapiens EF-hand calcium binding domain 3 (EFCAB3), transcript variant 1, mRNA.	206							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GCTGCCTTTGCTAATGCTGCC	0.428000														34			18		0	0	1	0	0
ADAM28	10863	broad.mit.edu	37	8	24207446	24207446	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:24207446G>A	uc003xdy.3	+	18	2143	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.R374Q	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	687					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGTAATCCGGCACCAGAGC	0.478000														48			23		0	0	1	0	0
CARD11	84433	broad.mit.edu	37	7	2983911	2983911	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:2983911G>A	uc003smv.3	-	4	953	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	207					T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTGCGTAGCGCATGGCTAAG	0.567000			Mis		DLBCL									87			17		0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74667996	74667996	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:74667996G>A	uc002lmi.3	+	27	5162	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1655					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGGAGGGCCGGGCGCACCAG	0.637000														10			6		0	0	1	0	0
SLC22A25	387601	broad.mit.edu	37	11	62997040	62997040	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:62997040C>T	uc001nwr.1	-	0	85	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.V29I	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	29					transmembrane transport	integral to membrane		p.N28N(2)		NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TATACTATGACGTTGAACATT	0.458000														30			13		0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55223567	55223567	+	Missense_Mutation	SNP	G	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:55223567G>T	uc003tqk.3	+	7	1180	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_uc003tqh.3_Missense_Mutation_p.G312W|EGFR_uc003tqi.3_Missense_Mutation_p.G312W|EGFR_uc003tqj.3_Missense_Mutation_p.G312W|EGFR_uc022adm.1_Missense_Mutation_p.G312W|EGFR_uc010kzg.2_Missense_Mutation_p.G267W|EGFR_uc022adn.1_Missense_Mutation_p.G267W|EGFR_uc011kco.2_Missense_Mutation_p.G259W|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	312					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of MAP kinase activity|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C311S(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGAGCCTGTGGGGCCGACAG	0.607000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				98			878		0	0	1	1	0
HAPLN1	1404	broad.mit.edu	37	5	82937339	82937339	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:82937339G>A	uc003kim.3	-	3	1112	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	HAPLN1_uc003kin.3_Silent_p.V347V	NM_001884	NP_001875	P10915	HPLN1_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 1 (HAPLN1), mRNA.	347	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGAAGCAGTAGACACCATACA	0.453000														97			13		0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82104638	82104638	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:82104638C>T	uc002fgv.3	+	2	742	c.570C>T	c.(568-570)gcC>gcT	p.A190A		NM_002153	NP_002144	P37059	DHB2_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 2 (HSD17B2), mRNA.	190					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	AATGCATGGCCGTGAACTTCT	0.488000														40			16		0	0	1	0	0
CDH8	1006	broad.mit.edu	37	16	62055208	62055208	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055208G>A	uc002eog.2	-	1	1055	c.100C>T	c.(100-102)Cag>Tag	p.Q34*		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	34					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACTTGAGACTGATTCATCGGA	0.443000														20			9		0	0	1	0	0
TBL1Y	90665	broad.mit.edu	37	Y	6911098	6911098	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrY:6911098C>T	uc004frb.3	+	6	783	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	TBL1Y_uc004frc.3_Missense_Mutation_p.P46S|TBL1Y_uc004frd.3_Missense_Mutation_p.P46S|TBL1Y_uc011nap.2_5'UTR	NM_033284	NP_599021	Q9BQ87	TBL1Y_HUMAN	Homo sapiens transducin (beta)-like 1, Y-linked (TBL1Y), transcript variant 1, mRNA.	46	F-box-like.				transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTAGTGCCACCGTCTGCCCT	0.532000														9			14		0	0	1	0	0
HLA-DPB1	3115	broad.mit.edu	37	6	33052887	33052887	+	Silent	SNP	C	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:33052887C>A	uc003ocu.2	+	2	641	c.525C>A	c.(523-525)atC>atA	p.I175I	HLA-DPB1_uc011dqo.2_Non-coding_Transcript|HLA-DPB1_uc011dqq.1_Silent_p.I71I	NM_002121	NP_002112	P04440	DPB1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP beta 1 (HLA-DPB1), mRNA.	175	Beta-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCAACCTGATCCGTAATGGAG	0.552000														64			24		4.72057e-08	4.76874e-08	1	1	0
PLCG2	5336	broad.mit.edu	37	16	81953229	81953229	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81953229G>A	uc002fgt.3	+	19	2373	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H	PLCG2_uc010chg.1_Missense_Mutation_p.R732H	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	732	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R732C(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAGACTGCGCTACCCCGTG	0.537000														39			26		0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10430103	10430103	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:10430103C>T	uc010coi.3	-	29	4128	c.4000G>A	c.(4000-4002)Gcc>Acc	p.A1334T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1334T|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1334					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.N1333N(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCGCCAGGGCGTTCTTGGCC	0.493000														42			25		0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671755	10671755	+	Silent	SNP	T	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:10671755T>A	uc002kos.2	-	51	8202	c.8028A>T	c.(8026-8028)tcA>tcT	p.S2676S	PIEZO2_uc002koq.3_Silent_p.S468S	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2676						integral to membrane	ion channel activity										CAAGGACAACTGAAGCATATA	0.323000														22			13		0	0	1	0	0
MAGEA11	4110	broad.mit.edu	37	X	148798319	148798319	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:148798319C>T	uc004fdq.3	+	4	1328	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	MAGEA11_uc004fdr.3_Silent_p.H362H	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	391	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGGGCCCACGCTGAGACCA	0.527000														25			69		0	0	1	0	0
ATP5J2-PTCD1	100526740	broad.mit.edu	37	7	99027240	99027240	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:99027240C>T	uc011kiw.2	-	4	991	c.931G>A	c.(931-933)Gac>Aac	p.D311N	ATP5J2-PTCD1_uc003uqh.3_Missense_Mutation_p.D262N	NM_001198879	NP_001185808	B4DJ38	B4DJ38_HUMAN	Homo sapiens ATP5J2-PTCD1 readthrough (ATP5J2-PTCD1), mRNA.	311																	ATCCTAAGGTCTGCGCACTTG	0.607000														56			18		0	0	1	0	0
SNRPA	6626	broad.mit.edu	37	19	41268829	41268829	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:41268829G>A	uc002ooz.3	+	3	1005	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_004596	NP_004587	P09012	SNRPA_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide A (SNRPA), mRNA.	150	Pro-rich.					nucleoplasm|spliceosomal complex	RNA binding|nucleotide binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGACTCAGGCGCCCCGCATTA	0.657000														24			11		0	0	1	0	0
PLCG2	5336	broad.mit.edu	37	16	81925184	81925184	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81925184G>A	uc002fgt.3	+	10	1153	c.975G>A	c.(973-975)tcG>tcA	p.S325S	PLCG2_uc010chg.1_Silent_p.S325S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	325	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGATCTCCTCGTCACATAACA	0.552000														9			5		0	0	1	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130343421	130343421	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:130343421C>T	uc010scd.2	+	7	2558	c.2558C>T	c.(2557-2559)gCg>gTg	p.A853V		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	853	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGTGCTCCGCGAGCTGCGGC	0.726000														38			17		0	0	1	0	0
ENG	2022	broad.mit.edu	37	9	130587089	130587089	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:130587089G>A	uc004bsj.4	-	6	1394	c.981C>T	c.(979-981)gcC>gcT	p.A327A	ENG_uc011mam.2_Silent_p.A138A|ENG_uc004bsk.4_Silent_p.A327A	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	327					BMP signaling pathway|artery morphogenesis|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CGCAGCTGGAGGCATGAAGTG	0.617000									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia					8			9		0	0	1	0	0
ISM1	140862	broad.mit.edu	37	20	13280078	13280078	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:13280078A>G	uc010gce.1	+	5	1373	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	456						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACTACATCAAGCAGTTCCAA	0.567000														52			30		0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156884576	156884576	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:156884576C>T	uc001fqj.1	+	22	3216	c.3100C>T	c.(3100-3102)Cgc>Tgc	p.R1034C	PEAR1_uc001fqk.1_Missense_Mutation_p.R659C	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	1034						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCACTTCGACGCCAGGACCG	0.612000														27			12		0	0	1	0	0
C12orf51	283450	broad.mit.edu	37	12	112647838	112647838	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr12:112647838G>A	uc021reb.1	-	49	7842	c.7446C>T	c.(7444-7446)gcC>gcT	p.A2482A	C12orf51_uc001ttr.1_Silent_p.A369A	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CGGTGGCCACGGCAGCAATCC	0.537000														19			7		0	0	1	0	0
SAMD15	161394	broad.mit.edu	37	14	77844618	77844618	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:77844618C>T	uc001xtq.1	+	0	857	c.857C>T	c.(856-858)cCa>cTa	p.P286L	TMED8_uc001xto.1_5'Flank|SAMD15_uc021rwt.1_Missense_Mutation_p.P286L	NM_001010860	NP_001010860	Q9P1V8	SAM15_HUMAN	Homo sapiens sterile alpha motif domain containing 15 (SAMD15), mRNA.	286										breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGACTCAACCAGAGGTTCCA	0.512000														46			25		0	0	1	0	0
DDX42	11325	broad.mit.edu	37	17	61864442	61864442	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:61864442G>A	uc002jbu.3	+	2	290	c.33G>A	c.(31-33)aaG>aaA	p.K11K	DDX42_uc002jbv.3_Silent_p.K11K	NM_007372	NP_987095	Q86XP3	DDX42_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 42 (DDX42), transcript variant 1, mRNA.	11					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTGGCACTAAGCGAGGATTTG	0.448000														88			40		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	C	C	rs142470496	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:29091840T>C	uc003adu.1	-	10	1189	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	373	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(18)|p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						39			4		0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284501	118284501	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:118284501G>A	uc004era.4	-	0	42	c.42C>T	c.(40-42)caC>caT	p.H14H		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	14										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGAGAGAAGCGTGAAAGGCAG	0.642000														17			47		0	0	1	0	0
NFKBIA	4792	broad.mit.edu	37	14	35872895	35872895	+	Splice_Site	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:35872895C>T	uc001wtf.4	-	2	446	c.336_splice	c.e2+1	p.Q112_splice		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	112					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|negative regulation of DNA binding|negative regulation of NF-kappaB transcription factor activity|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of transcription from RNA polymerase II promoter|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	I-kappaB/NF-kappaB complex|cytosol|nucleus|plasma membrane	NF-kappaB binding|identical protein binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGGCGCACCTGCTGCAGG	0.567000														7			4		0	0	1	0	0
OR7C2	26658	broad.mit.edu	37	19	15052351	15052351	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:15052351C>T	uc010xoc.2	+	0	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_012377	NP_036509	O60412	OR7C2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 2 (OR7C2), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCCTGGGATTCGCAGAGGACT	0.498000														82			26		0	0	1	0	0
SERPINA3	12	broad.mit.edu	37	14	95090030	95090030	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:95090030C>T	uc001ydp.3	+	4	1310	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	SERPINA3_uc001ydo.4_Missense_Mutation_p.S409F|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.S384F|SERPINA3_uc001yds.3_Missense_Mutation_p.S384F	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	384	RCL.	Reactive bond.			acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCTCCTTTCTGCATTAGTG	0.498000														54			33		0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46284511	46284511	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:46284511G>A	uc002ldd.3	+	8	1165	c.806G>A	c.(805-807)cGc>cAc	p.R269H	CTIF_uc002ldc.3_Missense_Mutation_p.R269H|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	269	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GGCGCACACCGCAATGCCAAA	0.642000														24			23		0	0	1	0	0
TRPV5	56302	broad.mit.edu	37	7	142627452	142627452	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:142627452C>T	uc003wby.1	-	1	482	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TRPV5_uc003wbz.3_Missense_Mutation_p.R73Q	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	73					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTTTGTCGAACGTCACA	0.512000														56			23		0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72166638	72166638	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:72166638G>A	uc002fcc.4	-	9	1628	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	PMFBP1_uc002fcd.3_Intron|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Intron	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	486										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCACCTGCAGGGGCCTCACCA	0.632000														45			12		0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36046393	36046393	+	Silent	SNP	C	T	T	rs143513836	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:36046393C>T	uc002oal.1	-	13	2135	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	702					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTGGTGCGCGCAAACACCA	0.667000														32			10		0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24451502	24451502	+	Missense_Mutation	SNP	A	G	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:24451502A>G	uc002zzi.1	+	8	1100	c.973A>G	c.(973-975)Agc>Ggc	p.S325G	CABIN1_uc021wnc.1_Missense_Mutation_p.S275G|CABIN1_uc002zzj.1_Missense_Mutation_p.S275G|CABIN1_uc002zzl.2_Missense_Mutation_p.S325G|CABIN1_uc010guk.1_Missense_Mutation_p.S280G|CABIN1_uc002zzk.2_Missense_Mutation_p.S280G	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	325					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCCAAGCACTGTCAG	0.577000														67			25		0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32461395	32461395	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:32461395G>A	uc002roi.3	-	6	2796	c.2535C>T	c.(2533-2535)caC>caT	p.H845H	NLRC4_uc021vfq.1_Silent_p.H845H|NLRC4_uc002roj.2_Silent_p.H845H|NLRC4_uc010ezt.2_Silent_p.H180H	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	845					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGACCAAATTGTGAAGATTCT	0.303000														11			6		0	0	1	0	0
SYT9	143425	broad.mit.edu	37	11	7324401	7324401	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:7324401G>C	uc001mfe.3	+	1	514	c.277G>C	c.(277-279)Gac>Cac	p.D93H	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	93						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGTAGCAAAGACAACAACCA	0.562000														72			33		0	0	1	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10574741	10574741	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:10574741C>T	uc002czw.3	+	9	1714	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	ATF7IP2_uc010uyp.2_Missense_Mutation_p.P63S|ATF7IP2_uc002czu.3_Missense_Mutation_p.P519S|ATF7IP2_uc002czv.3_Silent_p.V496V|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CACAGAAAGTCCAGTATCCCC	0.388000														48			19		0	0	1	0	0
FHOD3	80206	broad.mit.edu	37	18	34156464	34156464	+	Missense_Mutation	SNP	C	T	T	rs143579901	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:34156464C>T	uc021uiv.1	+	5	659	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	FHOD3_uc002kzr.1_Missense_Mutation_p.R188C|FHOD3_uc002kzs.1_Missense_Mutation_p.R188C|FHOD3_uc002kzt.1_Missense_Mutation_p.R188C|FHOD3_uc002kzu.1_Missense_Mutation_p.R13C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	188	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGTAATAAACCGCAATGAAAC	0.373000														23			17		0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	A	A	rs146546850	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:29091841G>A	uc003adu.1	-	10	1188	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_Silent_p.S151S|CHEK2_uc010gvh.1_Silent_p.S281S|CHEK2_uc010gvi.1_Intron|CHEK2_uc003adt.1_Silent_p.S415S|CHEK2_uc003adv.1_Silent_p.S343S|CHEK2_uc003adx.1_Silent_p.S151S	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	372	Protein kinase.				DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|cell cycle|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(16)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes						40			4		0	0	1	0	0
ASPN	54829	broad.mit.edu	37	9	95228797	95228797	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:95228797G>A	uc004ase.2	-	3	744	c.444C>T	c.(442-444)acC>acT	p.T148T	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ASPN_uc010mqy.2_Silent_p.T148T	NM_017680	NP_060150	Q9BXN1	ASPN_HUMAN	Homo sapiens asporin (ASPN), transcript variant 1, mRNA.	148					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACTTCTTTGTGGTTAGAAAGG	0.373000														52			34		0	0	1	0	0
ENPEP	2028	broad.mit.edu	37	4	111398156	111398156	+	Missense_Mutation	SNP	C	A	A	rs112068198	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:111398156C>A	uc003iab.4	+	0	928	c.586C>A	c.(586-588)Ctg>Atg	p.L196M		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	196					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CGCCGGCTGGCTGAACGGCTC	0.502000														50			20		7.45023e-12	7.68304e-12	1	1	0
KANK3	256949	broad.mit.edu	37	19	8389602	8389602	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:8389602G>A	uc010dwa.3	-	8	2261	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	732										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACACATCAGCGCTGTGGCCCC	0.637000														54			20		0	0	1	0	0
CDK14	5218	broad.mit.edu	37	7	90377064	90377064	+	Silent	SNP	T	C	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:90377064T>C	uc003uky.2	+	3	660	c.438T>C	c.(436-438)taT>taC	p.Y146Y	CDK14_uc003ukt.1_Silent_p.Y100Y|CDK14_uc003ukv.1_Silent_p.Y100Y|CDK14_uc003uku.1_Silent_p.Y100Y|CDK14_uc003ukx.1_Intron|CDK14_uc003ukz.1_Silent_p.Y128Y|CDK14_uc010les.1_Silent_p.Y100Y|CDK14_uc011khl.1_Intron	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	146	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGATCTTATGCTACAGTAT	0.338000														58			17		0	0	1	0	0
OPN4	94233	broad.mit.edu	37	10	88418318	88418318	+	Missense_Mutation	SNP	C	T	T	rs143641898	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:88418318C>T	uc010qmk.1	+	4	762	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	OPN4_uc001kdp.3_Missense_Mutation_p.R179C|OPN4_uc001kdq.3_Missense_Mutation_p.R168C|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	168					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGCCCTGGACCGCTACCTGGT	0.617000														19			20		0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89624256	89624256	+	Missense_Mutation	SNP	C	G	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:89624256C>G	uc001kfb.3	+	0	1062	c.30C>G	c.(28-30)agC>agG	p.S10R	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	10			S -> N (retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		T cell receptor signaling pathway|activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development	PML body|cytosol|internal side of plasma membrane	PDZ domain binding|anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.S10N(2)|p.I8_R14>LRLICIF(2)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGATCGTTAGCAGAAACAAAA	0.478000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				21			24		0	0	1	0	0
RBMS3	27303	broad.mit.edu	37	3	29977603	29977603	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:29977603C>T	uc003cel.3	+	10	1336	c.966C>T	c.(964-966)gaC>gaT	p.D322D	RBMS3_uc010hfq.3_Silent_p.D335D|RBMS3_uc003cek.3_Silent_p.D322D|RBMS3_uc010hfr.3_Silent_p.D322D|RBMS3_uc003cem.3_Silent_p.D304D	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	322						cytoplasm	RNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAACCATGGACCATCCCATGT	0.438000														16			5		0	0	1	0	0
SEC11C	90701	broad.mit.edu	37	18	56816768	56816768	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:56816768C>T	uc002lht.3	+	1	167	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SEC11C_uc010dpo.1_Silent_p.F37F|SEC11C_uc010xej.1_Silent_p.F37F	NM_033280	NP_150596	Q9BY50	SC11C_HUMAN	Homo sapiens SEC11 homolog C (S. cerevisiae) (SEC11C), mRNA.	37					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TTTTAAACTTCGCCATGATCG	0.493000														59			32		0	0	1	0	0
TLN2	83660	broad.mit.edu	37	15	63032969	63032969	+	Splice_Site	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:63032969G>A	uc002alb.4	+	29	4025	c.4025_splice	c.e29+1	p.R1342_splice	TLN2_uc002alc.4_Splice_Site	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1342					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCTGCAAGGTAGGAGTGGG	0.493000														11			11		0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117424371	117424371	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:117424371C>T	uc003vjf.3	-	4	2298	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	736										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTAATGTCCAGTCCTTCT	0.478000														105			31		0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185678385	185678385	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:185678385G>A	uc003iww.2	-	20	2285	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	ACSL1_uc011ckm.1_Missense_Mutation_p.S493F|ACSL1_uc003iwt.1_Missense_Mutation_p.S664F|ACSL1_uc003iwu.1_Missense_Mutation_p.S664F|ACSL1_uc011ckn.1_Missense_Mutation_p.S630F|ACSL1_uc003iws.1_Missense_Mutation_p.S224F	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	664					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATTGTCGATAGAAAATAATTC	0.453000														23			17		0	0	1	0	0
MYO18B	84700	broad.mit.edu	37	22	26164406	26164406	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:26164406G>A	uc003abz.1	+	3	773	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	MYO18B_uc003aca.1_Missense_Mutation_p.A56T|MYO18B_uc010guy.1_Missense_Mutation_p.A56T|MYO18B_uc010guz.1_Missense_Mutation_p.A56T|MYO18B_uc011aka.1_5'UTR|MYO18B_uc011akb.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	175						nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCCATGACGCCCCCCCTTG	0.597000														10			3		0	0	1	0	0
ZNF226	7769	broad.mit.edu	37	19	44681060	44681060	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:44681060C>T	uc002oys.3	+	5	1825	c.1645C>T	c.(1645-1647)Cat>Tat	p.H549Y	ZNF226_uc002oyp.3_Missense_Mutation_p.H549Y|ZNF226_uc002oyq.3_Missense_Mutation_p.H432Y|ZNF226_uc002oyr.3_Missense_Mutation_p.H432Y|ZNF226_uc002oyt.3_Missense_Mutation_p.H549Y	NM_001032372	NP_001027545	Q9NYT6	ZN226_HUMAN	Homo sapiens zinc finger protein 226 (ZNF226), transcript variant 1, mRNA.	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TCTTCAAATCCATCAGAAGGC	0.443000														99			30		0	0	1	0	0
RIN2	54453	broad.mit.edu	37	20	19945627	19945627	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:19945627C>T	uc002wro.2	+	5	791	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RIN2_uc010gcu.2_Intron|RIN2_uc010gcv.2_Intron	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	165					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAATCAGTTTCGCAGATTTAT	0.478000														59			23		0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93276685	93276685	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:93276685C>T	uc001yaz.1	+	4	1261	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	360					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCGGATGCCACTCTGAAGAGA	0.433000			T	RET	papillary thyroid									18			10		0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55110940	55110940	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:55110940C>T	uc010rie.2	+	0	264	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGATAAAATCGCTATTTCCT	0.438000														76			45		0	0	1	0	0
LCE2A	353139	broad.mit.edu	37	1	152671572	152671572	+	Silent	SNP	C	T	T	rs61812675		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:152671572C>T	uc021oze.1	+	0	195	c.195C>T	c.(193-195)ggC>ggT	p.G65G	LCE2A_uc001faj.3_Silent_p.G65G	NM_178428	NP_848515	Q5TA79	LCE2A_HUMAN	Homo sapiens late cornified envelope 2A (LCE2A), mRNA.	65	Cys-rich.				keratinization			p.C51_G64delCCGSSSGGCCSSGG(2)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGGGTGGCGGCTGCTGCC	0.687000														76			50		0	0	1	0	0
C6	729	broad.mit.edu	37	5	41149449	41149449	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:41149449G>A	uc003jmk.2	-	16	2727	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_uc003jml.1_Silent_p.D839D	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	839	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418000														69			35		0	0	1	0	0
WFS1	7466	broad.mit.edu	37	4	6304060	6304060	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:6304060C>T	uc003giy.3	+	7	2704	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	WFS1_uc003gix.3_Silent_p.S846S|WFS1_uc003giz.3_Silent_p.S664S	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	846					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGCCATCAGCTGCCTCAACT	0.652000														35			17		0	0	1	0	0
abParts	0	broad.mit.edu	37	2	90121979	90121979	+	RNA	SNP	C	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:90121979C>A	uc010yts.2	+	28		c.3119C>A								Parts of antibodies, mostly variable regions.																		GGGAAAGTCCCTAAGCACCTG	0.507000														158			9		1.76689e-08	1.80332e-08	1	1	0
VLDLR	7436	broad.mit.edu	37	9	2648302	2648302	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:2648302G>A	uc003zhk.1	+	12	2314	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K	VLDLR_uc003zhl.1_Silent_p.K639K|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	639					cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TAGTACTAAAGTCTCTGGAGT	0.408000														30			3		0	0	1	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107000	107000	+	RNA	SNP	C	G	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrGL000211.1:107000C>G	uc003boa.3	+	3		c.699C>G								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		GGTCACTCTCCTGGTTAGCAG	0.408000														156			16		0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785489	1785489	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1785489G>A	uc002ltw.3	-	25	3606	c.3372C>T	c.(3370-3372)tgC>tgT	p.C1124C	ATP8B3_uc002ltv.3_Silent_p.C1087C|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	1124					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGACAGCAGGCAAGACAGGG	0.647000														30			6		0	0	1	0	0
ANKRD20A11P	391267	broad.mit.edu	37	21	15352074	15352074	+	RNA	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr21:15352074C>T	uc002yji.2	-	0		c.692G>A			ANKRD20A11P_uc002yjj.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A11, pseudogene (ANKRD20A11P), non-coding RNA.																		CGCCAGACAGCGCTCCATCTC	0.662000														20			8		0	0	1	0	0
TIMP2	7077	broad.mit.edu	37	17	76851869	76851869	+	Silent	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:76851869C>T	uc002jwf.3	-	4	845	c.543G>A	c.(541-543)aaG>aaA	p.K181K	TIMP2_uc002jwe.3_Silent_p.K104K|TIMP2_uc010wty.2_Silent_p.K104K	NM_003255	NP_003246	P16035	TIMP2_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 2 (TIMP2), mRNA.	181							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CGTTGATGTTCTTCTCTGTGA	0.642000														52			30		0	0	1	0	0
STOML1	9399	broad.mit.edu	37	15	74281475	74281475	+	Nonsense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:74281475G>A	uc002awe.3	-	2	435	c.364C>T	c.(364-366)Cga>Tga	p.R122*	STOML1_uc002awf.3_Nonsense_Mutation_p.R122*|STOML1_uc010bje.3_Nonsense_Mutation_p.R122*|STOML1_uc010uld.2_Nonsense_Mutation_p.R80*|STOML1_uc002awh.3_Intron|STOML1_uc002awg.3_Intron	NM_004809	NP_004800	Q9UBI4	STML1_HUMAN	Homo sapiens stomatin (EPB72)-like 1 (STOML1), mRNA.	122						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGAAGGCTCGTGTCCTCAGA	0.602000														22			3		0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70515655	70515655	+	Missense_Mutation	SNP	C	T	T			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:70515655C>T	uc001xly.3	-	6	2990	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	SLC8A3_uc001xlv.3_Missense_Mutation_p.V117M|SLC8A3_uc001xlu.3_Missense_Mutation_p.V103M|SLC8A3_uc001xlw.3_Missense_Mutation_p.V743M|SLC8A3_uc001xlx.3_Missense_Mutation_p.V744M|SLC8A3_uc001xlz.3_Missense_Mutation_p.V740M|SLC8A3_uc010ara.3_Non-coding_Transcript|SLC8A3_uc001xma.2_Missense_Mutation_p.V103M	NM_183002	NP_892114	P57103	NAC3_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 3 (SLC8A3), transcript variant c, mRNA.	746					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGGGGGCACACAGGCAAAC	0.592000														26			8		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1053821	1053821	+	Missense_Mutation	SNP	A	C	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1053821A>C	uc002lqw.4	+	24	3689	c.3458A>C	c.(3457-3459)gAc>gCc	p.D1153A	ABCA7_uc010dsb.1_Missense_Mutation_p.D1015A	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1153					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGCTGCGGACACAGATATG	0.637000														79			18		0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120254648	120254648	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:120254648G>A	uc001ehz.3	+	0	230	c.3G>A	c.(1-3)atG>atA	p.M1I	PHGDH_uc009whl.3_5'UTR|PHGDH_uc009whm.3_5'UTR	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	1					L-serine biosynthetic process|brain development		NAD binding|electron carrier activity|phosphoglycerate dehydrogenase activity	p.M1I(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CTCCAGCAATGGCTTTTGCAA	0.557000														38			16		0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907844	164907844	+	Missense_Mutation	SNP	T	C	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:164907844T>C	uc003fej.4	-	1	1219	c.775A>G	c.(775-777)Att>Gtt	p.I259V	SLITRK3_uc003fek.3_Missense_Mutation_p.I259V|SLITRK3_uc021xgy.1_Missense_Mutation_p.I259V	NM_014926	NP_055741	O94933	SLIK3_HUMAN	Homo sapiens SLIT and NTRK-like family, member 3 (SLITRK3), mRNA.	259	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCACAGGTAATGTCTCCCACC	0.488000										HNSCC(40;0.11)				86			5		0	0	1	0	0
RRN3P3	100131998	broad.mit.edu	37	16	22441236	22441236	+	RNA	SNP	G	A	A	rs114681793	by1000genomes	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:22441236G>A	uc010vbu.1	-	4		c.1170C>T			RRN3P3_uc002dkp.2_Non-coding_Transcript					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 3 (RRN3P3), non-coding RNA.																		TGTTCCTCTCGATGATGGTGT	0.507000														26			5		0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852748	22852748	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:22852748G>A	uc001bft.2	+	18	4090	c.3579G>A	c.(3577-3579)gaG>gaA	p.E1193E	ZBTB40_uc001bfu.2_Silent_p.E1193E|ZBTB40_uc009vqi.1_Silent_p.E1081E	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1193					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCACTTTGGAGGAGACCCAGC	0.592000														64			15		0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153078545	153078545	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:153078545G>A	uc011dcy.2	+	9	1421	c.1394G>A	c.(1393-1395)cGt>cAt	p.R465H	GRIA1_uc003lva.4_Missense_Mutation_p.R455H|GRIA1_uc003luy.4_Missense_Mutation_p.R455H|GRIA1_uc003luz.4_Missense_Mutation_p.R360H|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R375H|GRIA1_uc011dcx.2_Missense_Mutation_p.R386H|GRIA1_uc011dcz.2_Missense_Mutation_p.R465H|GRIA1_uc010jia.1_Missense_Mutation_p.R435H	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	455					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.R455H(1)		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)	TACTCCTACCGTCTGGAGATT	0.542000														29			12		0	0	1	0	0
FOXN1	8456	broad.mit.edu	37	17	26864332	26864332	+	Missense_Mutation	SNP	G	C	C			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:26864332G>C	uc010crm.3	+	8	2023	c.1825G>C	c.(1825-1827)Ggt>Cgt	p.G609R	FOXN1_uc002hbj.3_Missense_Mutation_p.G609R	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	609					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CGGGGCACTGGGTGACCTGCA	0.687000														31			17		0	0	1	0	0
C19orf21	126353	broad.mit.edu	37	19	757391	757391	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:757391G>A	uc002lpo.3	+	1	528	c.445G>A	c.(445-447)Ggc>Agc	p.G149S		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	149										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTCATCCAGGGCCAGGCAGT	0.697000														9			3		0	0	1	0	0
SERPINB7	8710	broad.mit.edu	37	18	61449715	61449715	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:61449715G>A	uc002ljl.3	+	1	205	c.109G>A	c.(109-111)Gct>Act	p.A37T	SERPINB7_uc002ljm.3_Missense_Mutation_p.A37T|SERPINB7_uc010xet.2_Missense_Mutation_p.A37T|SERPINB7_uc010dqg.3_Missense_Mutation_p.A37T	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	37					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.A37>?(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAGCCTCTTCGCTGCCCTGGC	0.483000														31			16		0	0	1	0	0
COLEC11	78989	broad.mit.edu	37	2	3691388	3691388	+	Missense_Mutation	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:3691388G>A	uc002qya.3	+	6	644	c.496G>A	c.(496-498)Gcc>Acc	p.A166T	COLEC11_uc002qxz.3_Missense_Mutation_p.A163T|COLEC11_uc002qyb.3_Missense_Mutation_p.A142T|COLEC11_uc002qyc.3_Missense_Mutation_p.A142T|COLEC11_uc010ewo.3_Missense_Mutation_p.A118T|COLEC11_uc010ewp.3_Missense_Mutation_p.A140T|COLEC11_uc010ewq.3_Missense_Mutation_p.A116T|COLEC11_uc010ewr.3_Missense_Mutation_p.A116T|COLEC11_uc010ews.3_Missense_Mutation_p.A92T	NM_024027	NP_076932	Q9BWP8	COL11_HUMAN	Homo sapiens collectin sub-family member 11 (COLEC11), transcript variant 1, mRNA.	166	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTACGCGGACGCCCAGCTGTC	0.662000														54			20		0	0	1	0	0
PTCH2	8643	broad.mit.edu	37	1	45294292	45294292	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:45294292G>A	uc010olf.2	-	11	1488	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	PTCH2_uc021omv.1_Silent_p.G492G|PTCH2_uc010olg.2_Silent_p.G190G	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	492	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGACACTCGCCCATGCGCT	0.632000									Basal Cell Nevus syndrome					9			5		0	0	1	0	0
MYO5C	55930	broad.mit.edu	37	15	52534268	52534268	+	Silent	SNP	G	A	A			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:52534268G>A	uc010bff.3	-	19	2695	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	MYO5C_uc010uga.2_Intron|MYO5C_uc010ugb.2_Intron	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	845	IQ 4.					myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCCTTGCCAGGAATCCTCGG	0.537000														44			53		0	0	1	0	0
RERE	473	broad.mit.edu	37	1	8716284	8716285	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:8716284_8716285delTC	uc001ape.3	-	2	882_883	c.72_73delGA	c.(70-75)gagaaafs	p.E24fs	RERE_uc001apf.3_Frame_Shift_Del_p.E24fs|RERE_uc001aph.1_Frame_Shift_Del_p.E24fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	24					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TTGTCTCTTTTCtctctctctc	0.505													---	142	---	---	7	---					
ZC3H11A	9877	broad.mit.edu	37	1	203818970	203818971	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:203818970_203818971insG	uc001hac.3	+	16	2371_2372	c.1755_1756insG	c.(1753-1758)gtagccfs	p.V585fs	ZC3H11A_uc001had.3_Frame_Shift_Ins_p.V585fs|ZC3H11A_uc001hae.3_Frame_Shift_Ins_p.V585fs|ZC3H11A_uc001haf.3_Frame_Shift_Ins_p.V585fs|ZC3H11A_uc010pqm.2_Frame_Shift_Ins_p.V531fs|ZC3H11A_uc001hag.1_Frame_Shift_Ins_p.V585fs	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	585							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGAGATGTAGCCTCTTGCAA	0.500													---	44	---	---	16	---					
SAP130	79595	broad.mit.edu	37	2	128707774	128707776	+	In_Frame_Del	DEL	CAC	-	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:128707774_128707776delCAC	uc010fmd.2	-	16	2839_2841	c.2707_2709delGTG	c.(2707-2709)gtgdel	p.V903del	SAP130_uc002tpn.2_In_Frame_Del_p.V628del|SAP130_uc002tpp.2_In_Frame_Del_p.V868del	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	868	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCTCAGCCTTCACCAGAAGACTC	0.468													---	73	---	---	34	---					
AADACL2	344752	broad.mit.edu	37	3	151475059	151475062	+	Frame_Shift_Del	DEL	TATG	-	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:151475059_151475062delTATG	uc003ezc.3	+	4	1003_1006	c.883_886delTATG	c.(883-888)tatgtafs	p.Y295fs	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Frame_Shift_Del_p.Y82fs	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	295						extracellular region|integral to membrane	carboxylesterase activity	p.A295V(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TAGAAAAGACTATGTATATACTGA	0.397													---	38	---	---	16	---					
PRUNE2	158471	broad.mit.edu	37	9	79318755	79318758	+	Frame_Shift_Del	DEL	CTAA	-	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:79318755_79318758delCTAA	uc010mpk.3	-	8	7895_7898	c.7771_7774delTTAG	c.(7771-7776)ttagcafs	p.L2591fs	PRUNE2_uc004akj.4_Frame_Shift_Del_p.L44fs|PRUNE2_uc022big.1_Non-coding_Transcript|PRUNE2_uc010mpl.1_Frame_Shift_Del_p.L44fs|PRUNE2_uc022bih.1_Frame_Shift_Del_p.L2413fs	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2591					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGAAGCTTGCTAACTGAGTTCCC	0.417													---	44	---	---	14	---					
CCDC87	55231	broad.mit.edu	37	11	66358631	66358633	+	In_Frame_Del	DEL	TCT	-	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:66358631_66358633delTCT	uc001oiq.4	-	0	1922_1924	c.1854_1856delAGA	c.(1852-1857)gaagag>gag	p.618_619EE>E	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	618										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						CACAGGAACCTCTTCTTCATGCA	0.473													---	60	---	---	21	---					
abParts	0	broad.mit.edu	37	14	106774086	106774087	+	Splice_Site	INS	-	AGTAATACACGGCA	AGTAATACACGGCA			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:106774086_106774087insAGTAATACACGGCA	uc021ser.1	-	684		c.18723_splice	c.e684+1							Parts of antibodies, mostly variable regions.																		GCCTCTTGCACGTGTCCTCAGC	0.550													---	7	---	---	4	---					
PRX	57716	broad.mit.edu	37	19	40900042	40900043	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:40900042_40900043delTT	uc002onr.3	-	6	4485_4486	c.4216_4217delAA	c.(4216-4218)aagfs	p.K1406fs	PRX_uc002onq.3_Frame_Shift_Del_p.K1267fs|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1406					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGGGTGACTTCTCTCTGACG	0.688													---	130	---	---	39	---					
CUL4B	8450	broad.mit.edu	37	X	119678463	119678465	+	In_Frame_Del	DEL	ATA	-	-	rs144312827		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:119678463_119678465delATA	uc004esw.3	-	7	1445_1447	c.1008_1010delTAT	c.(1006-1011)attata>ata	p.336_337II>I	CUL4B_uc010nqq.3_In_Frame_Del_p.35_36II>I|CUL4B_uc004esv.3_In_Frame_Del_p.318_319II>I	NM_003588	NP_003579	Q13620	CUL4B_HUMAN	Homo sapiens cullin 4B (CUL4B), transcript variant 1, mRNA.	336					DNA repair|cell cycle|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.H335Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCACTTATAATATGAGCCC	0.350													---	8	---	---	5	---					
