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
PRAMEF11	440560	broad.mit.edu	37	1	12887475	12887475	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:12887475G>T	uc001auk.2	-	2	578	c.382C>A	c.(382-384)Ctt>Att	p.L128I		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	128										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACCCATAGAAGGAGGCAGGTG	0.468												
B4GALT2	8704	broad.mit.edu	37	1	44446914	44446914	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:44446914G>A	uc010okl.2	+	1	245	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	B4GALT2_uc001clg.3_Missense_Mutation_p.V28I|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Missense_Mutation_p.V28I	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	28					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCTCGTGGCCGTCATCCTCTA	0.662												
PPM1J	333926	broad.mit.edu	37	1	113255057	113255057	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:113255057C>T	uc001ect.1	-	3	779	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Missense_Mutation_p.R45Q	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	251	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCACGCCGCTCCCGGGC	0.617												
PTEN	5728	broad.mit.edu	37	10	89692768	89692768	+	Splice_Site	SNP	A	A	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr10:89692768A>C	uc001kfb.3	+	5	1286	c.254_splice	c.e5-2	p.V85_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	85	Phosphatase tensin-type.				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 cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|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|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain 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.?(5)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(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)		TTTTTACCACAGTTGCACAAT	0.328		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)		
FAM181B	220382	broad.mit.edu	37	11	82443599	82443599	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:82443599C>T	uc001ozp.3	-	0	1308	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	391										large_intestine(1)|lung(2)|prostate(1)	4						AATCGTAGGACACCTGATGGG	0.706												
NOX4	50507	broad.mit.edu	37	11	89073229	89073229	+	Splice_Site	SNP	A	A	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:89073229A>T	uc001pct.3	-	15	1685	c.1446_splice	c.e15+1	p.K482_splice	NOX4_uc009yvr.3_Splice_Site_p.K457_splice|NOX4_uc001pcu.3_Splice_Site_p.K408_splice|NOX4_uc001pcw.3_Splice_Site_p.K175_splice|NOX4_uc001pcx.3_Splice_Site_p.K135_splice|NOX4_uc001pcv.3_Splice_Site_p.K442_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Splice_Site_p.K246_splice|NOX4_uc010rtv.2_Splice_Site_p.K418_splice|NOX4_uc009yvq.3_Splice_Site_p.K458_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	482	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCCTAATGTTACCTTGTTATG	0.318												
ANGPTL5	253935	broad.mit.edu	37	11	101762058	101762058	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:101762058T>A	uc001pgl.3	-	8	1715	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	373	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTGAAACAGATTTAATCTTGA	0.303												
MMP1	4312	broad.mit.edu	37	11	102663372	102663372	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:102663372C>T	uc001phi.2	-	6	1140	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E267K	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	333	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TCGGCAAATTCGTAAGCAGCT	0.403												
IPO8	10526	broad.mit.edu	37	12	30809654	30809654	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:30809654G>A	uc001rjd.3	-	16	2260	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	IPO8_uc010sjt.2_Missense_Mutation_p.R433W|IPO8_uc001rje.1_Missense_Mutation_p.R127W	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	638					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATGATCCGTAGACAGATA	0.234												
ZBTB39	9880	broad.mit.edu	37	12	57396685	57396685	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:57396685G>T	uc001sml.2	-	1	2170	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I	ZBTB39_uc021qzg.1_Missense_Mutation_p.L673I	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGAGGTTAAGGGTGGAACTG	0.542												
STARD13	90627	broad.mit.edu	37	13	33685935	33685935	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:33685935C>A	uc001uuw.3	-	9	2713	c.2587G>T	c.(2587-2589)Gaa>Taa	p.E863*	STARD13_uc001uuu.3_Nonsense_Mutation_p.E855*|STARD13_uc001uuv.3_Nonsense_Mutation_p.E745*|STARD13_uc001uux.3_Nonsense_Mutation_p.E828*	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	863	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGTCGCATTCCATGATCATG	0.478												
SLC15A1	6564	broad.mit.edu	37	13	99337143	99337143	+	Silent	SNP	C	C	T	rs143994270	by1000genomes	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:99337143C>T	uc001vno.3	-	22	2039	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	654					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCAGAAGCAACGCGGCAAATA	0.418												
ASB2	51676	broad.mit.edu	37	14	94419793	94419793	+	Missense_Mutation	SNP	G	G	A	rs113529772		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:94419793G>A	uc001ycd.3	-	4	909	c.539C>T	c.(538-540)aCg>aTg	p.T180M	ASB2_uc001ycc.2_Missense_Mutation_p.T132M|ASB2_uc001yce.1_Missense_Mutation_p.T78M	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	132					intracellular signal transduction			p.T132R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCCTGCACGTTGCCAAGTA	0.587												
JAG2	3714	broad.mit.edu	37	14	105622189	105622189	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:105622189C>T	uc001yqg.3	-	3	1017	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	JAG2_uc001yqh.3_Missense_Mutation_p.A205T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	205	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGCAAGTGGCGCTGTAGTAG	0.627												
abParts	8755	broad.mit.edu	37	14	106357638	106357638	+	Splice_Site	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:106357638G>A	uc021ser.1	-	3793		c.57336_splice	c.e3793+1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron					Parts of antibodies, mostly variable regions.																		CCCTTGCTGGGGTCAGTGCCC	0.592												
AQR	9716	broad.mit.edu	37	15	35193048	35193048	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:35193048A>G	uc001ziv.3	-	19	2199	c.2018T>C	c.(2017-2019)aTt>aCt	p.I673T		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	673						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAGGTTCCGAATAGTCTCCAG	0.448												
THBS1	7057	broad.mit.edu	37	15	39879564	39879564	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:39879564C>T	uc001zkh.3	+	7	1316	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	379	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACTCTGCGGACGATGGCTGGT	0.567												
SPTBN5	51332	broad.mit.edu	37	15	42164092	42164092	+	Frame_Shift_Del	DEL	A	A	-			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:42164092delA	uc001zos.3	-	27	5417	c.5084delT	c.(5083-5085)ctgfs	p.L1695fs		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1730					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATGCAGCCTCAGGGTCCCCTC	0.677												
ITFG3	83986	broad.mit.edu	37	16	315018	315018	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:315018G>A	uc002cgf.3	+	12	1851	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Silent_p.A552A	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	552						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGTGAGGCGTAGAGGCACG	0.647												
PTX4	390667	broad.mit.edu	37	16	1537647	1537647	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:1537647G>A	uc010uvf.2	-	1	451	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	156						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCCTCCAGGCGTGCCAGTGAG	0.741												
CIITA	4261	broad.mit.edu	37	16	10997663	10997663	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:10997663G>A	uc002daj.4	+	8	984	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	CIITA_uc002dai.4_Missense_Mutation_p.R283Q|CIITA_uc002dak.4_Missense_Mutation_p.R234Q|CIITA_uc002dag.2_Missense_Mutation_p.R283Q|CIITA_uc002dah.2_Missense_Mutation_p.R235Q|CIITA_uc010bup.1_Missense_Mutation_p.R283Q	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	283					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTCCAGACCGGCCAGGCTCC	0.627			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """							
ERN2	10595	broad.mit.edu	37	16	23718095	23718095	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:23718095C>T	uc002dma.4	-	5	780	c.611G>A	c.(610-612)cGc>cAc	p.R204H	ERN2_uc010bxp.3_Missense_Mutation_p.R204H|ERN2_uc010bxq.1_Missense_Mutation_p.R12H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGA	0.607												
C16orf82	162083	broad.mit.edu	37	16	27078770	27078770	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:27078770delG	uc010vcm.2	+	0	552	c.451delG	c.(451-453)gggfs	p.G151fs		NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN	Homo sapiens chromosome 16 open reading frame 82 (C16orf82), mRNA.	215																	GCAGACTGGAGGGAAAGAGTG	0.652												
PHF23	79142	broad.mit.edu	37	17	7139423	7139423	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7139423G>A	uc002gfa.3	-	3	1050	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L208L|PHF23_uc010cma.3_Silent_p.L145L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	275							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGTGTTGGCAGCACAGGGACT	0.587												
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH1	4619	broad.mit.edu	37	17	10398535	10398535	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:10398535C>G	uc002gmo.3	-	35	5363	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1757						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGCCTTCTCTTCTGCATTG	0.473												
KRT14	3861	broad.mit.edu	37	17	39742796	39742796	+	Silent	SNP	A	A	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:39742796A>C	uc002hxf.2	-	0	352	c.291T>G	c.(289-291)ggT>ggG	p.G97G	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	97	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622												
SLC25A10	1468	broad.mit.edu	37	17	79687107	79687107	+	Nonstop_Mutation	SNP	A	A	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:79687107A>C	uc010wut.2	+	14	1461	c.1329A>C	c.(1327-1329)tgA>tgC	p.*443C	SLC25A10_uc002kbi.3_Nonstop_Mutation_p.*288C|SLC25A10_uc010dif.3_Nonstop_Mutation_p.*297C|SLC25A10_uc010wuu.2_Nonstop_Mutation_p.*242C	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding	p.*288C(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGCCATCCTGACCAGCCGTGG	0.607												
MIER2	54531	broad.mit.edu	37	19	313632	313632	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:313632C>T	uc002lok.1	-	7	676	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	223	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		AGCTGGTCTTCGTTCTCGTAG	0.622												
TUBB4A	10382	broad.mit.edu	37	19	6495601	6495601	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:6495601G>A	uc002mfg.1	-	3	1016	c.909C>T	c.(907-909)tgC>tgT	p.C303C	TUBB4A_uc002mff.1_Silent_p.C231C|JA429441_uc021unq.1_5'Flank	NM_006087	NP_006078	P04350	TBB4_HUMAN	Homo sapiens tubulin, beta 4A class IVa (TUBB4A), mRNA.	303					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity										GGCGCGGGTCGCACGCCGCCA	0.677												
MUC16	94025	broad.mit.edu	37	19	9089511	9089511	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:9089511G>A	uc002mkp.3	-	0	2508	c.2304C>T	c.(2302-2304)gcC>gcT	p.A768A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	768	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A768A(3)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGAAAGAACGGCTGAGCTGG	0.483												
DCAF15	90379	broad.mit.edu	37	19	14071180	14071180	+	Silent	SNP	G	G	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:14071180G>C	uc002mxt.3	+	10	1614	c.1608G>C	c.(1606-1608)ctG>ctC	p.L536L	DCAF15_uc002mxu.3_Non-coding_Transcript	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	536										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TAGGCGACCTGACTGAGGTCA	0.637											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
KCNK3	3777	broad.mit.edu	37	2	26950539	26950539	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:26950539C>T	uc002rhn.2	+	1	451	c.288C>T	c.(286-288)taC>taT	p.Y96Y		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	96					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAGGCTACGGGCACGCGG	0.632												
DDX18	8886	broad.mit.edu	37	2	118587017	118587017	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:118587017C>A	uc002tlh.1	+	12	1944	c.1845C>A	c.(1843-1845)ttC>ttA	p.F615L		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	615							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTTGGTTTCAAGGTGCCTC	0.398												
XRN2	22803	broad.mit.edu	37	20	21367621	21367621	+	Silent	SNP	C	C	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:21367621C>A	uc002wsf.1	+	28	2859	c.2764C>A	c.(2764-2766)Cga>Aga	p.R922R	XRN2_uc002wsg.1_Silent_p.R846R|XRN2_uc010zsk.1_Silent_p.R868R|XRN2_uc002wsh.1_Silent_p.R60R	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	922					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TCCACCCAGACGAGATGATCG	0.502												
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	-	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:29628229_29628230insA	uc010ztl.1	+	2	173_174	c.141_142insA	c.(139-144)gggaaafs	p.G47fs	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_5'UTR					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351												
MMP9	4318	broad.mit.edu	37	20	44639885	44639885	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:44639885C>T	uc002xqz.3	+	4	772	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	251	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GTCGCTCCGACGGCTTGCCCT	0.657												
ARFGEF2	10564	broad.mit.edu	37	20	47639713	47639713	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:47639713G>A	uc002xtx.4	+	34	4902	c.4750G>A	c.(4750-4752)Gcc>Acc	p.A1584T	ARFGEF2_uc010zyf.2_Missense_Mutation_p.A877T	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1584					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CATGGTTGCCGCCCAGGTAAG	0.517												
HRH3	11255	broad.mit.edu	37	20	60791534	60791534	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:60791534G>A	uc002yci.3	-	2	1163	c.866C>T	c.(865-867)gCg>gTg	p.A289V	HRH3_uc002ycf.2_Missense_Mutation_p.A289V|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	289					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCCGAGGGTCGCCTCCCCGGC	0.736												
TMPRSS15	5651	broad.mit.edu	37	21	19642347	19642347	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr21:19642347C>T	uc002ykw.3	-	24	3030	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	1000	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACTCCGGGGCGATTAGGCAG	0.448												
LZTR1	150209	broad.mit.edu	37	22	21332217	21332217	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr22:21332217A>T	uc002ztj.2	+	15	1618	c.1400A>T	c.(1399-1401)gAt>gTt	p.D467V	LZTR1_uc002ztk.2_Missense_Mutation_p.D467V|LZTR1_uc002ztl.2_Missense_Mutation_p.D473V|LZTR1_uc011ahx.1_Missense_Mutation_p.D455V|LZTR1_uc002ztn.3_5'Flank	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCAGCTGGCGATGCTGTCACC	0.582												
UBP1	7342	broad.mit.edu	37	3	33454282	33454282	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:33454282T>C	uc003cfq.4	-	3	910	c.380A>G	c.(379-381)cAa>cGa	p.Q127R	UBP1_uc003cfr.4_Missense_Mutation_p.Q127R|UBP1_uc010hga.3_Missense_Mutation_p.Q127R	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	127					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L126L(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CTCTGTGTATTGTAGCCGTCT	0.438												
TMF1	7110	broad.mit.edu	37	3	69097485	69097485	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:69097485C>T	uc011bfx.2	-	1	618	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	TMF1_uc003dnn.3_Missense_Mutation_p.R124Q	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	124					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCTTCTGGTCGTTGTGATTT	0.418												
IQCG	84223	broad.mit.edu	37	3	197616555	197616555	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:197616555G>A	uc003fyo.3	-	10	1374	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	IQCG_uc003fyn.3_Missense_Mutation_p.R312W|IQCG_uc003fyp.3_Missense_Mutation_p.R410W	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	410	IQ.									autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ATTTCTCTCCGTATCATAGTG	0.463												
NPFFR2	10886	broad.mit.edu	37	4	72897628	72897628	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr4:72897628T>A	uc003hgg.2	+	0	108	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	NPFFR2_uc010iig.2_5'UTR	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	4					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TATGAATAGCTTCTTCGGAAC	0.562												
ROPN1L	83853	broad.mit.edu	37	5	10461398	10461398	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:10461398T>G	uc021xwo.1	+	4	703	c.520T>G	c.(520-522)Tac>Gac	p.Y174D	ROPN1L_uc003jex.4_Missense_Mutation_p.Y174D	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	174					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGTTTACCGCTACTTGGCCAG	0.527												
VCAN	1462	broad.mit.edu	37	5	82816676	82816676	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:82816676G>A	uc003kii.3	+	6	2907	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A851T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	851	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAAGATGGAGCAGATGAATT	0.408												
ADAMTS2	9509	broad.mit.edu	37	5	178555036	178555036	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:178555036G>A	uc003mjw.3	-	16	2643	c.2541C>T	c.(2539-2541)aaC>aaT	p.N847N		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	847	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N847N(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587												
OR2B6	26212	broad.mit.edu	37	6	27925491	27925491	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:27925491G>T	uc011dkx.2	+	0	473	c.473G>T	c.(472-474)tGg>tTg	p.W158L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCAGTGTGGTTGTCTACC	0.493												
APOBEC2	10930	broad.mit.edu	37	6	41029317	41029317	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:41029317T>C	uc003opl.3	+	1	529	c.382T>C	c.(382-384)Tgt>Cgt	p.C128R	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	128					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCAGCCCCTGTGCAGCGTG	0.572												
PNLDC1	154197	broad.mit.edu	37	6	160240043	160240043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:160240043G>A	uc003qsy.1	+	16	1362	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*	PNLDC1_uc003qsx.1_Nonsense_Mutation_p.W430*	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	430						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAAAAGGTGGCCTGGGGTCA	0.463												
PRPS1L1	221823	broad.mit.edu	37	7	18066638	18066638	+	Silent	SNP	T	T	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:18066638T>A	uc003stz.3	-	0	849	c.768A>T	c.(766-768)ccA>ccT	p.P256P		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	256					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAGAAATGGCTGGGCCAGAAA	0.448												
SAMD9	54809	broad.mit.edu	37	7	92730646	92730646	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:92730646C>G	uc003umf.3	-	2	5035	c.4765G>C	c.(4765-4767)Gtt>Ctt	p.V1589L	SAMD9_uc003umg.3_Missense_Mutation_p.V1589L|SAMD9_uc022ahg.1_Missense_Mutation_p.V1589L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1589						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCTCTTAAACAATTTCAATG	0.378												
EGR3	1960	broad.mit.edu	37	8	22550311	22550311	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:22550311C>T	uc003xcm.1	-	0	505	c.147G>A	c.(145-147)atG>atA	p.M49I	EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.2_5'Flank	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	49					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TACCTGTAGCCATCTGATTGT	0.602												
CNGB3	54714	broad.mit.edu	37	8	87666239	87666239	+	Splice_Site	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:87666239C>T	uc003ydx.3	-	7	951	c.903_splice	c.e7+1	p.Q301_splice	CNGB3_uc010maj.3_Splice_Site_p.Q163_splice	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	301					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTGTCACCTACCTGAAATTTT	0.303												
RGS22	26166	broad.mit.edu	37	8	101065160	101065160	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:101065160G>A	uc003yjb.1	-	9	1754	c.1559C>T	c.(1558-1560)gCt>gTt	p.A520V	RGS22_uc003yja.1_Missense_Mutation_p.A339V|RGS22_uc003yjc.1_Missense_Mutation_p.A508V|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.A424V	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	520					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCAGCACTAGCATATTTTGT	0.393												
DMRT3	58524	broad.mit.edu	37	9	990870	990870	+	Silent	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:990870C>T	uc003zgw.1	+	1	1322	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	428					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R428C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TTCCTGCCCGCGCCACGGAAG	0.552												
GAPVD1	26130	broad.mit.edu	37	9	128092422	128092422	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:128092422G>A	uc004bpp.3	+	10	2258	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	GAPVD1_uc011lzs.1_Missense_Mutation_p.D700N|GAPVD1_uc004bpq.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwx.3_Missense_Mutation_p.D700N|GAPVD1_uc004bpr.3_Missense_Mutation_p.D679N|GAPVD1_uc004bps.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D559N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	700					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.L699V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGTGCTTCTTGACCCCTGCAC	0.478												
PNPLA4	8228	broad.mit.edu	37	X	7870101	7870101	+	Nonsense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:7870101G>A	uc011mhq.1	-	5	721	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PNPLA4_uc011mhr.1_Nonsense_Mutation_p.R187*|PNPLA4_uc011mhs.1_Nonsense_Mutation_p.R100*	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	187			R -> Q (in dbSNP:rs2231793).		lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGTCCAGTCGTCCACTGAAG	0.512												
SMS	6611	broad.mit.edu	37	X	21995314	21995314	+	Silent	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:21995314G>A	uc004dag.3	+	4	693	c.465G>A	c.(463-465)tcG>tcA	p.S155S	SMS_uc011mjq.2_Silent_p.S59S	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	155					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	p.S155L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TTCTACACTCGAAGCAGTTTG	0.433												
MAOB	4129	broad.mit.edu	37	X	43628565	43628565	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:43628565C>G	uc004dfz.4	-	12	1512	c.1336G>C	c.(1336-1338)Gca>Cca	p.A446P	MAOB_uc011mkx.2_Missense_Mutation_p.S397T|MAOB_uc011mky.2_Missense_Mutation_p.A430P	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	446					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCTCGGGCTGCTCTCTCCCCG	0.572												
CFP	5199	broad.mit.edu	37	X	47486225	47486225	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:47486225C>G	uc004dih.3	-	6	1129	c.887G>C	c.(886-888)tGt>tCt	p.C296S	CFP_uc004dig.4_Missense_Mutation_p.C296S|CFP_uc004dii.1_Missense_Mutation_p.C232S|CFP_uc010nhu.2_Missense_Mutation_p.C296S	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	296	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGCCAGCACAGAAGGGGCC	0.642												
DGAT2L6	347516	broad.mit.edu	37	X	69421881	69421881	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:69421881G>A	uc004dxx.1	+	4	711	c.614G>A	c.(613-615)cGt>cAt	p.R205H		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	205					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTCAAGCAGCGTAAAGGTTTT	0.547												
ATP7A	538	broad.mit.edu	37	X	77296145	77296145	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:77296145G>T	uc004ecx.4	+	18	3875	c.3715G>T	c.(3715-3717)Gct>Tct	p.A1239S		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1239					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGCAGAACTGGCTATCCATAT	0.413												
TMSB15A	11013	broad.mit.edu	37	X	101770022	101770022	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:101770022C>T	uc004eje.3	-	1	193	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_021992	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15a (TMSB15A), mRNA.	24					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			large_intestine(1)|lung(1)	2						TTTTTTTCTTCAGTATTAGTT	0.368												
ARMCX5-GPRASP2	114928	broad.mit.edu	37	X	101970131	101970131	+	Missense_Mutation	SNP	A	A	G			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:101970131A>G	uc022cbh.1	+	0	334	c.334A>G	c.(334-336)Act>Gct	p.T112A	ARMCX5-GPRASP2_uc022cay.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbe.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejl.3_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbf.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc022cbg.1_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejm.3_Missense_Mutation_p.T112A|ARMCX5-GPRASP2_uc004ejk.3_Missense_Mutation_p.T112A	NM_001199818	NP_001186747	Q96D09	GASP2_HUMAN	Homo sapiens ARMCX5-GPRASP2 readthrough (ARMCX5-GPRASP2), mRNA.	112						cytoplasm	protein binding										TCGTTCTAAAACTGATGCCAA	0.572												
RAB9B	51209	broad.mit.edu	37	X	103080388	103080388	+	Silent	SNP	C	C	T	rs142893082	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:103080388C>T	uc004ell.2	-	2	666	c.327G>A	c.(325-327)gcG>gcA	p.A109A	RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Silent_p.A109A	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.	109					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CCTTCACATCCGCATAGTAAA	0.488