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
FLG	2312	broad.mit.edu	37	1	152279767	152279767	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152279767G>A	uc001ezu.1	-	2	7631	c.7595C>T	c.(7594-7596)tCg>tTg	p.S2532L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2532S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.597000									Ichthyosis					219			103		0	0	0.003610	0	0
RAPGEF6	51735	broad.mit.edu	37	5	130766884	130766884	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:130766884C>T	uc003kvn.2	-	25	4339	c.4133G>A	c.(4132-4134)aGc>aAc	p.S1378N	RAPGEF6_uc003kvp.2_Missense_Mutation_p.S1428N|RAPGEF6_uc003kvo.2_Missense_Mutation_p.S1391N|RAPGEF6_uc010jdi.2_Missense_Mutation_p.S1386N|RAPGEF6_uc010jdj.2_Missense_Mutation_p.S1386N|RAPGEF6_uc003kvm.2_Missense_Mutation_p.S301N	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	1378	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTTGGAAGGCTTTGGAAGTT	0.443000														63			21		0	0	0.001882	0	0
PCLO	27445	broad.mit.edu	37	7	82785657	82785657	+	Silent	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:82785657C>T	uc003uhx.2	-	1	589	c.300G>A	c.(298-300)ccG>ccA	p.P100P	PCLO_uc003uhv.2_Silent_p.P100P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	100					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCCAGGGTCCGGGGGTCTTC	0.418000														36			15		0	0	0.003163	0	0
WBSCR17	64409	broad.mit.edu	37	7	70597851	70597851	+	Silent	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:70597851C>T	uc003tvy.3	+	0	63	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	21						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGCCGGCTTCGTGCTCTTCC	0.672000														19			3		0	0	0.009096	0	0
HRNR	388697	broad.mit.edu	37	1	152192866	152192866	+	Silent	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152192866G>A	uc001ezt.1	-	2	1315	c.1239C>T	c.(1237-1239)cgC>cgT	p.R413R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	413					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTTGGCCGCGGCCTGAAG	0.632000														20			6		0	0	0.001984	0	0
DUOX2	50506	broad.mit.edu	37	15	45401122	45401122	+	Silent	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:45401122G>A	uc001zun.3	-	11	1466	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	DUOX2_uc010bea.3_Silent_p.S421S	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	421	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTCTGTACGGGAGAATTTGC	0.557000														41			12		0	0	0.002450	0	0
DLG5	9231	broad.mit.edu	37	10	79571808	79571808	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr10:79571808C>T	uc001jzk.3	-	21	4266	c.4196G>A	c.(4195-4197)gGc>gAc	p.G1399D	DLG5_uc001jzi.3_Missense_Mutation_p.G154D|DLG5_uc001jzj.3_Missense_Mutation_p.G814D|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1399	PDZ 3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGGTTTATGCCGTTGAACTG	0.642000														37			3		0	0	0.004672	0	0
CYBB	1536	broad.mit.edu	37	X	37660587	37660587	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:37660587G>C	uc004ddr.2	+	7	944	c.883G>C	c.(883-885)Gtg>Ctg	p.V295L	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Missense_Mutation_p.V263L|CYBB_uc011mkg.1_Missense_Mutation_p.V28L	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	295	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TCAACAGAAGGTGGTCATCAC	0.418000														149			81		0	0	0.003610	0	0
PHKA2	5256	broad.mit.edu	37	X	18912471	18912471	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:18912471G>C	uc004cyv.4	-	31	3818	c.3388C>G	c.(3388-3390)Cgc>Ggc	p.R1130G	LOC100132163_uc004cyt.3_Non-coding_Transcript|PHKA2_uc010nfe.1_Missense_Mutation_p.R162G|PHKA2_uc010nff.1_Non-coding_Transcript	NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1130C(2)|p.N1129K(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCGGCACGCGGTTCAGCACC	0.602000														34			18		0	0	0.010504	0	0
EPHB6	2051	broad.mit.edu	37	7	142563850	142563850	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:142563850G>T	uc011kst.2	+	8	2025	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	EPHB6_uc011ksu.2_Missense_Mutation_p.R413L|EPHB6_uc003wbs.3_Missense_Mutation_p.R121L|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Missense_Mutation_p.R121L|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	413	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGAAGGCCGCCAGGAACCT	0.637000														6			7		8.12818e-05	8.32171e-05	0.001984	1	0
HGF	3082	broad.mit.edu	37	7	81339500	81339500	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:81339500G>A	uc003uhl.3	-	12	1669	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	HGF_uc003uhm.3_Nonsense_Mutation_p.R497*	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	502	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTTTGTTCGTGTTGGAATC	0.348000														74			15		0	0	0.007413	0	0
PSD4	23550	broad.mit.edu	37	2	113950108	113950108	+	Missense_Mutation	SNP	C	T	T	rs117870995	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:113950108C>T	uc002tjc.3	+	5	1963	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	PSD4_uc002tjd.3_Missense_Mutation_p.R215C|PSD4_uc002tje.3_Missense_Mutation_p.R565C|PSD4_uc002tjf.3_Missense_Mutation_p.R215C	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	594	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.R594C(2)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGGCCTCACGCCTCTATCG	0.597000														47			23		0	0	0.002299	0	0
SPAG17	200162	broad.mit.edu	37	1	118558706	118558706	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:118558706A>C	uc001ehk.2	-	28	4237	c.4169T>G	c.(4168-4170)aTa>aGa	p.I1390R		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1390						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAGGTGCCTATGTGAACCTC	0.468000														53			26		0	0	0.003954	0	0
ESAM	90952	broad.mit.edu	37	11	124624651	124624651	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:124624651G>A	uc001qav.4	-	4	789	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Missense_Mutation_p.R27C|ESAM_uc001qau.4_Missense_Mutation_p.R133C|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	206	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		AAAGACCCACGGATGACATCT	0.478000														63			30		0	0	0.003271	0	0
HECW1	23072	broad.mit.edu	37	7	43581598	43581598	+	Splice_Site	SNP	G	C	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:43581598G>C	uc003tid.1	+	26	4853	c.4248_splice	c.e26+1	p.Q1416_splice	HECW1_uc011kbi.1_Splice_Site_p.Q1382_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1416	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTTTGGACAGGTTTGTGTGAC	0.368000														126			26		0	0	0.004656	0	0
FAM48B2	170067	broad.mit.edu	37	X	24330363	24330363	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:24330363G>C	uc011mjw.2	-	0	1070	c.1070C>G	c.(1069-1071)tCg>tGg	p.S357W		NM_001136233	NP_001129705	P0C7V6	F48B2_HUMAN	Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA.	357										breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1)	23						ATCATTAAACGACTGCATGAT	0.542000														82			18		0	0	0.008871	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409492	56409492	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:56409492C>T	uc001njb.1	-	0	424	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	OR8U8_uc001nit.2_Intron	NM_001002925	NP_001002925	Q8NGF4	O5AP2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AP, member 2 (OR5AP2), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V142M(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTCCCAGACACGAGAACTGGG	0.488000														33			12		0	0	0.001368	0	0
SNCA	6622	broad.mit.edu	37	4	90743488	90743488	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:90743488G>A	uc003hsq.3	-	3	474	c.215C>T	c.(214-216)aCg>aTg	p.T72M	SNCA_uc010ikt.3_Missense_Mutation_p.T58M|SNCA_uc003hso.3_Missense_Mutation_p.T72M|SNCA_uc003hsp.3_Missense_Mutation_p.T72M|SNCA_uc003hsr.3_Missense_Mutation_p.T72M|SNCA_uc021xqc.1_Missense_Mutation_p.T72M	NM_001146054	NP_001139527	P37840	SYUA_HUMAN	Homo sapiens synuclein, alpha (non A4 component of amyloid precursor) (SNCA), transcript variant 2, mRNA.	72					activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	Hsp70 protein binding|alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TGTCACACCCGTCACCACTGC	0.502000														25			15		0	0	0.003163	0	0
YSK4	80122	broad.mit.edu	37	2	135744115	135744115	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:135744115A>T	uc002tue.1	-	6	2358	c.2327T>A	c.(2326-2328)tTt>tAt	p.F776Y	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.F663Y|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.F504Y|YSK4_uc002tui.4_Missense_Mutation_p.F793Y	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	776							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGAAGATAGAAACTCATTTCC	0.403000														80			4		0	0	0.009096	0	0
COL17A1	1308	broad.mit.edu	37	10	105793848	105793848	+	Silent	SNP	A	G	G	rs147001132	byFrequency	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr10:105793848A>G	uc001kxr.3	-	51	4180	c.4011T>C	c.(4009-4011)taT>taC	p.Y1337Y	COL17A1_uc001kxq.3_5'Flank	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1337	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCAGTGCCATAGGGACCCC	0.617000														5			4		0	0	0.009096	0	0
TUBGCP5	114791	broad.mit.edu	37	15	22835954	22835954	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:22835954A>G	uc001yuq.2	+	1	315	c.185A>G	c.(184-186)gAa>gGa	p.E62G	TUBGCP5_uc001yur.4_Missense_Mutation_p.E62G	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	62					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CACAAAATAGAAAAAACAATC	0.313000														85			52		0	0	0.003610	0	0
OR2A5	393046	broad.mit.edu	37	7	143747664	143747664	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:143747664C>A	uc011ktw.2	+	0	170	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGCACACCCCCATGTACTTC	0.502000														73			42		7.63091e-17	8.52284e-17	0.007835	1	0
NDST3	9348	broad.mit.edu	37	4	119064828	119064828	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119064828G>A	uc003ibx.3	+	5	1931	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	NDST3_uc011cgf.1_Missense_Mutation_p.V429I	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	510	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCACTGTCGTCCTCAACCC	0.428000														32			15		0	0	0.003163	0	0
IL12RB1	3594	broad.mit.edu	37	19	18174773	18174773	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:18174773G>A	uc002nhx.1	-	13	1702	c.1651C>T	c.(1651-1653)Cgg>Tgg	p.R551W	IL12RB1_uc002nhw.1_Missense_Mutation_p.R511W|IL12RB1_uc010xqb.1_Missense_Mutation_p.R511W	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	511					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						ACACCAGCCCGCAGGCCACTG	0.642000														12			8		0	0	0.006214	0	0
RPL23AP53	644128	broad.mit.edu	37	8	163654	163654	+	RNA	SNP	C	T	T	rs2906362	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr8:163654C>T	uc010lra.3	-	3		c.479G>A			RPL23AP53_uc003woq.4_Non-coding_Transcript|RPL23AP53_uc010lrb.3_Non-coding_Transcript					Homo sapiens ribosomal protein L23a pseudogene 53 (RPL23AP53), non-coding RNA.																		CCTTTAAAGCCTTCACTTTGG	0.483000														87			4		0	0	0.001168	0	0
AGBL5	60509	broad.mit.edu	37	2	27278054	27278054	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:27278054C>T	uc002rie.3	+	5	1058	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	AGBL5_uc002rid.3_Missense_Mutation_p.R281C|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	281					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAACCCTCCGTCGCCTCTT	0.557000														71			41		0	0	0.008740	0	0
abParts	0	broad.mit.edu	37	14	106653470	106653470	+	RNA	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr14:106653470C>T	uc021ser.1	-	1433		c.28749G>A								Parts of antibodies, mostly variable regions.																		TGAATCGGCCCTTCACAGAGT	0.527000														100			30		0	0	0.002096	0	0
ROBO2	6092	broad.mit.edu	37	3	77614192	77614192	+	Silent	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:77614192C>T	uc011bgk.2	+	12	2425	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	ROBO2_uc021xat.1_Silent_p.I606I|ROBO2_uc003dpy.4_Silent_p.I590I|ROBO2_uc003dpz.3_Silent_p.I594I|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	590	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAATACAATCTACTTATTCA	0.507000														41			13		0	0	0.002450	0	0
PCDH19	57526	broad.mit.edu	37	X	99662058	99662058	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:99662058C>A	uc010nmz.3	-	0	3214	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	PCDH19_uc004efw.4_Missense_Mutation_p.G513V|PCDH19_uc004efx.4_Missense_Mutation_p.G513V	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	513	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTAGATGTCGCCTGAGTTGGG	0.587000														60			39		8.73648e-17	9.63253e-17	0.004289	1	0
MPPED1	758	broad.mit.edu	37	22	43870690	43870690	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:43870690G>A	uc011apz.2	+	3	921	c.580G>A	c.(580-582)Gac>Aac	p.D194N	MPPED1_uc011apv.2_Missense_Mutation_p.D161N|MPPED1_uc011apw.2_Missense_Mutation_p.D55N|MPPED1_uc011apx.2_Missense_Mutation_p.D3N|MPPED1_uc011apy.2_Missense_Mutation_p.D161N	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	161							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTTCATGGCCGACCTCATCAA	0.542000														77			32		0	0	0.002096	0	0
MYOCD	93649	broad.mit.edu	37	17	12620681	12620681	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:12620681C>T	uc002gno.2	+	3	495	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	MYOCD_uc002gnn.2_Missense_Mutation_p.R66C|MYOCD_uc002gnp.1_5'Flank	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	66					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCCCTGAAGCGCAAAGCCAG	0.398000														14			6		0	0	0.001984	0	0
GRHL2	79977	broad.mit.edu	37	8	102585973	102585973	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr8:102585973A>G	uc010mbu.3	+	5	1142	c.812A>G	c.(811-813)aAc>aGc	p.N271S	GRHL2_uc011lhi.1_Missense_Mutation_p.N271S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	271						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTACCTCAACAAAGGACAG	0.522000														28			16		0	0	0.004007	0	0
LBH	81606	broad.mit.edu	37	2	30457270	30457270	+	Splice_Site	SNP	G	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:30457270G>T	uc002rne.2	+	2	235	c.27_splice	c.e2-1	p.C9_splice		NM_030915	NP_112177	Q53QV2	LBH_HUMAN	Homo sapiens limb bud and heart development homolog (mouse) (LBH), mRNA.	9					multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGGCAGCCCCGACTAT	0.542000														42			21		2.21704e-12	2.38331e-12	0.002780	1	0
SLC25A53	401612	broad.mit.edu	37	X	103349186	103349186	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:103349186C>A	uc022cbz.1	-	0	755	c.755G>T	c.(754-756)tGg>tTg	p.W252L	SLC25A53_uc004elu.3_Missense_Mutation_p.W252L	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	252					transport	integral to membrane|mitochondrial inner membrane											GGCAGAGGCCCACAGGCTTGG	0.532000														28			16		3.45872e-05	3.58373e-05	0.004007	1	0
ST14	6768	broad.mit.edu	37	11	130079588	130079588	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:130079588A>G	uc001qfw.3	+	18	2631	c.2438A>G	c.(2437-2439)gAg>gGg	p.E813G		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	813	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCCAGCGTGGAGGCGGATGGG	0.692000														26			3		0	0	0.004672	0	0
TLR6	10333	broad.mit.edu	37	4	38830190	38830190	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:38830190G>A	uc010ifg.2	-	1	1026	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_uc003gtm.3_Missense_Mutation_p.T302M	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	302					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of interleukin-6 biosynthetic process|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323000														24			11		0	0	0.008291	0	0
PDE11A	50940	broad.mit.edu	37	2	178936632	178936632	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:178936632G>A	uc002ulq.3	-	0	851	c.533C>T	c.(532-534)tCg>tTg	p.S178L	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	178					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATTCACTCTCGATTCCAGCAG	0.537000									Primary Pigmented Nodular Adrenocortical Disease, Familial					63			35		0	0	0.003755	0	0
AFF2	2334	broad.mit.edu	37	X	148069037	148069037	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:148069037G>T	uc004fcp.3	+	19	4243	c.3764G>T	c.(3763-3765)cGg>cTg	p.R1255L	AFF2_uc004fcq.3_Missense_Mutation_p.R1245L|AFF2_uc004fcr.3_Missense_Mutation_p.R1216L|AFF2_uc011mxb.2_Missense_Mutation_p.R1220L|AFF2_uc004fcs.3_Missense_Mutation_p.R1220L|AFF2_uc011mxc.2_Missense_Mutation_p.R896L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1255					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTGTTACGGGGCTATGAA	0.483000														87			38		4.17593e-13	4.54595e-13	0.007835	1	0
CXXC11	285093	broad.mit.edu	37	2	242814228	242814228	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:242814228C>T	uc010fzu.1	+	1	544	c.521C>T	c.(520-522)aCg>aTg	p.T174M		NM_173821	NP_776182	Q14D33	CB085_HUMAN	Homo sapiens CXXC finger protein 11 (CXXC11), mRNA.	174						integral to membrane											TTCCCCGCCACGGCCTGGGGT	0.677000														5			5		0	0	0.003080	0	0
MIR548I2	100302277	broad.mit.edu	37	4	9557805	9557805	+	RNA	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:9557805C>T	uc021xlt.1	-	0		c.133G>A								Homo sapiens microRNA 548i-2 (MIR548I2), microRNA.																		GGATCAGGGACGAACTTTGTT	0.383000														121			58		0	0	0.003610	0	0
PRSS12	8492	broad.mit.edu	37	4	119216148	119216148	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119216148C>T	uc003ica.2	-	10	2032	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	662	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAGCGTAGCCCCGCAGAGGAG	0.532000														17			12		0	0	0.000978	0	0
NOBOX	135935	broad.mit.edu	37	7	144096876	144096876	+	Silent	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:144096876G>A	uc022aoj.1	-	5	1128	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	376					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CAGGGCCAGGGGCTGCAGGAT	0.537000														17			3		0	0	0.009096	0	0
TSC1	7248	broad.mit.edu	37	9	135798758	135798758	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr9:135798758G>A	uc004cca.2	-	5	719	c.485C>T	c.(484-486)tCa>tTa	p.S162L	TSC1_uc004ccb.3_Missense_Mutation_p.S162L|TSC1_uc011mcq.1_Missense_Mutation_p.S111L|TSC1_uc011mcr.2_Missense_Mutation_p.S41L|TSC1_uc011mcs.1_Missense_Mutation_p.S41L|TSC1_uc004ccc.1_Missense_Mutation_p.S162L|TSC1_uc004cce.1_Missense_Mutation_p.S162L	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	162					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCACCATGATGACAGACGGCC	0.433000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					33			15		0	0	0.004007	0	0
BC133032	0	broad.mit.edu	37	1	237167625	237167625	+	RNA	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:237167625G>A	uc001hyk.1	-	0		c.94C>T								Homo sapiens metallothionein 1H-like protein mRNA, complete cds.																		TGCAGGAGCCGGCGCAGGCGT	0.627000														18			8		0	0	0.003080	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000														2			2		0	0	0.004672	0	0
BCOR	54880	broad.mit.edu	37	X	39933842	39933842	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933842C>T	uc004den.4	-	3	1049	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	BCOR_uc004dep.4_Missense_Mutation_p.V253I|BCOR_uc004deo.4_Missense_Mutation_p.V253I|BCOR_uc004dem.4_Missense_Mutation_p.V253I|BCOR_uc004deq.4_Missense_Mutation_p.V253I	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	253					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGGGACCGACGTAGTGAGGT	0.612000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							20			7		0	0	0.001984	0	0
SLC35F3	148641	broad.mit.edu	37	1	234041399	234041399	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:234041399G>A	uc001hvy.1	+	1	323	c.178G>A	c.(178-180)Gtg>Atg	p.V60M		NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	0					transport	integral to membrane		p.V60L(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCGCGCTCCGTGGAGGATCT	0.642000														39			23		0	0	0.005443	0	0
TDRD3	81550	broad.mit.edu	37	13	61103049	61103049	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr13:61103049A>G	uc001vhz.4	+	10	2199	c.1411A>G	c.(1411-1413)Att>Gtt	p.I471V	TDRD3_uc010aef.2_Missense_Mutation_p.I296V|TDRD3_uc001via.3_Missense_Mutation_p.I471V|TDRD3_uc010aeg.3_Missense_Mutation_p.I564V|TDRD3_uc001vib.4_Missense_Mutation_p.I470V	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	471					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGTATAAAAATTGAAAAACA	0.303000														30			3		0	0	0.004672	0	0
BCOR	54880	broad.mit.edu	37	X	39933843	39933843	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933843G>T	uc004den.4	-	3	1048	c.756C>A	c.(754-756)taC>taA	p.Y252*	BCOR_uc004dep.4_Nonsense_Mutation_p.Y252*|BCOR_uc004deo.4_Nonsense_Mutation_p.Y252*|BCOR_uc004dem.4_Nonsense_Mutation_p.Y252*|BCOR_uc004deq.4_Nonsense_Mutation_p.Y252*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	252					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGACCGACGTAGTGAGGTG	0.607000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic							20			7		0.00198382	0.00200716	0.001984	1	0
PKHD1	5314	broad.mit.edu	37	6	51889804	51889804	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr6:51889804T>G	uc003pah.1	-	31	5080	c.4804A>C	c.(4804-4806)Aac>Cac	p.N1602H	PKHD1_uc003pai.3_Missense_Mutation_p.N1602H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1602	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACGTGGTGTTCTGTCCTCTC	0.498000														65			28		0	0	0.005443	0	0
PRCP	5547	broad.mit.edu	37	11	82571020	82571020	+	Splice_Site	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:82571020G>A	uc001ozs.3	-	2	422	c.309_splice	c.e2+1	p.T103_splice	PRCP_uc001ozr.3_Splice_Site_p.T124_splice	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	103					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGCACATACCGTGTTATTACA	0.353000														31			8		0	0	0.006214	0	0
DLGAP5	9787	broad.mit.edu	37	14	55619340	55619340	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr14:55619340G>T	uc001xbs.3	-	15	2306	c.2089C>A	c.(2089-2091)Cct>Act	p.P697T	DLGAP5_uc001xbt.3_Missense_Mutation_p.P697T	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	697					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTAATCCAGGACACTGAGCA	0.323000														16			5		1.23904e-05	1.29948e-05	0.000602	1	0
ABCF2	10061	broad.mit.edu	37	7	150921894	150921894	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:150921894C>T	uc003wjo.1	-	2	446	c.335G>A	c.(334-336)cGt>cAt	p.R112H	ABCF2_uc003wjp.3_Missense_Mutation_p.R112H	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	112	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCATAACGACGGCCTGAGTT	0.463000														38			13		0	0	0.001855	0	0
ASTN1	460	broad.mit.edu	37	1	176863937	176863937	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:176863937G>A	uc001glc.3	-	16	2913	c.2701C>T	c.(2701-2703)Cgg>Tgg	p.R901W	ASTN1_uc001glb.1_Missense_Mutation_p.R901W|ASTN1_uc001gld.1_Missense_Mutation_p.R901W	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	909					cell migration|neuron cell-cell adhesion	integral to membrane		p.R901Q(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCTTTCCCGCTCCTCAGAC	0.532000														95			55		0	0	0.003610	0	0
CHN2	1124	broad.mit.edu	37	7	29535576	29535576	+	Silent	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:29535576G>A	uc003szz.3	+	7	1100	c.663G>A	c.(661-663)acG>acA	p.T221T	CHN2_uc011jzs.2_Silent_p.T296T|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.T186T|CHN2_uc011jzt.2_Silent_p.T234T|CHN2_uc010kvd.3_Silent_p.T77T|CHN2_uc011jzu.2_Silent_p.T206T|CHN2_uc010kvh.3_Silent_p.T85T|CHN2_uc010kvi.3_Silent_p.T85T|CHN2_uc010kve.3_Silent_p.T85T|CHN2_uc003taa.3_Silent_p.T85T|CHN2_uc010kvf.3_Silent_p.T85T|CHN2_uc010kvg.3_Silent_p.T85T|CHN2_uc010kvj.3_Silent_p.T40T|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Silent_p.T40T|CHN2_uc011jzv.2_Silent_p.T14T	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	221					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGGTCCACACGTTCCGAGGCC	0.483000														47			28		0	0	0.006320	0	0
MYH11	4629	broad.mit.edu	37	16	15839063	15839063	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr16:15839063C>T	uc002ddx.3	-	20	2571	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	MYH11_uc002ddv.3_Missense_Mutation_p.A822T|MYH11_uc002ddw.3_Missense_Mutation_p.A815T|MYH11_uc002ddy.3_Missense_Mutation_p.A815T|MYH11_uc010bvg.3_Missense_Mutation_p.A647T	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	815					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617000			T	CBFB	AML									42			22		0	0	0.002299	0	0
FAM71B	153745	broad.mit.edu	37	5	156589604	156589604	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:156589604C>T	uc003lwn.3	-	1	1772	c.1672G>A	c.(1672-1674)Gta>Ata	p.V558I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	558						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGATATCTACCTCTCTGTCA	0.483000														145			61		0	0	0.003610	0	0
ATP8B3	148229	broad.mit.edu	37	19	1785228	1785228	+	Silent	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:1785228G>A	uc002ltw.3	-	26	3696	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	ATP8B3_uc002ltv.3_Silent_p.Y1117Y|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.	1154					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)		TCATGATGGCGTAGAAACCAA	0.597000														8			5		0	0	0.000602	0	0
OR6K3	391114	broad.mit.edu	37	1	158687191	158687191	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:158687191T>G	uc021pbn.1	-	0	715	c.715A>C	c.(715-717)Acc>Ccc	p.T239P		NM_001005327	NP_001005327	Q8NGY3	OR6K3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T238T(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCTGCACAGGTAGAAAAAGCC	0.453000														33			26		0	0	0.003954	0	0
COL6A3	1293	broad.mit.edu	37	2	238277603	238277603	+	Silent	SNP	G	A	A	rs115551245	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:238277603G>A	uc002vwl.2	-	9	4788	c.4503C>T	c.(4501-4503)gaC>gaT	p.D1501D	COL6A3_uc002vwo.2_Silent_p.D1295D|COL6A3_uc010znj.1_Silent_p.D894D	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1501	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.D1501N(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCGTATGGCGTCCAGCACCG	0.557000														24			17		0	0	0.004007	0	0
L1CAM	3897	broad.mit.edu	37	X	153133300	153133300	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:153133300G>A	uc004fjb.3	-	14	2002	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	L1CAM_uc004fjc.3_Missense_Mutation_p.R632C|L1CAM_uc010nuo.3_Missense_Mutation_p.R627C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	632	Fibronectin type-III 1.		R -> P (in MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R632S(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACACGCGCACCTGGCTC	0.667000														62			25		0	0	0.004656	0	0
TFDP3	51270	broad.mit.edu	37	X	132351926	132351926	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:132351926G>A	uc004exb.1	-	0	451	c.362C>T	c.(361-363)aCg>aTg	p.T121M		NM_016521	NP_057605	Q5H9I0	TFDP3_HUMAN	Homo sapiens transcription factor Dp family, member 3 (TFDP3), mRNA.	121		Critical for repression of E2F activity.				transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCTGCACCGTCTCCCAGAC	0.592000														81			35		0	0	0.004289	0	0
NPC1	4864	broad.mit.edu	37	18	21115459	21115459	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr18:21115459C>T	uc002kum.4	-	21	3725	c.3451G>A	c.(3451-3453)Gct>Act	p.A1151T	NPC1_uc010dlu.1_5'Flank|NPC1_uc010xaz.2_Missense_Mutation_p.A884T	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	1151					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity	p.A1151V(1)		breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGATACAGCGTTCAGACTG	0.512000														11			3		0	0	0.004672	0	0
SI	6476	broad.mit.edu	37	3	164730794	164730794	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:164730794T>C	uc003fei.3	-	33	4099	c.4036A>G	c.(4036-4038)Act>Gct	p.T1346A		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1346	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	Golgi apparatus|apical plasma membrane|brush border|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCGTTAGAGTTTTATCTATT	0.328000										HNSCC(35;0.089)				68			23		0	0	0.003954	0	0
SENP5	205564	broad.mit.edu	37	3	196654715	196654715	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:196654715G>A	uc003fwz.4	+	7	2320	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SENP5_uc011bty.2_Missense_Mutation_p.E645K	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	691	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAATAGACCTGAATTTCTTCA	0.413000														22			23		0	0	0.003954	0	0
WDR63	126820	broad.mit.edu	37	1	85546977	85546977	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:85546977G>T	uc001dkt.3	+	3	355	c.164G>T	c.(163-165)cGa>cTa	p.R55L	WDR63_uc009wcl.3_Missense_Mutation_p.R55L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	55								p.C54Y(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTAACTGCCGAATAGATGAA	0.368000														66			42		4.32679e-17	4.89611e-17	0.006999	1	0
KRT31	3881	broad.mit.edu	37	17	39553754	39553754	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:39553754C>T	uc002hwn.3	-	0	91	c.38G>A	c.(37-39)cGc>cAc	p.R13H	KRT31_uc010cxn.3_Missense_Mutation_p.R13H	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	13	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.647000														21			8		0	0	0.004482	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770103	15770103	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:15770103G>A	uc010xok.2	+	12	1521	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	CYP4F3_uc010xol.2_Missense_Mutation_p.V491I|CYP4F3_uc002nbj.3_Missense_Mutation_p.V491I|CYP4F3_uc010xom.2_Missense_Mutation_p.V342I|CYP4F3_uc002nbk.3_Missense_Mutation_p.V491I|CYP4F3_uc010xon.2_Missense_Mutation_p.V201I	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	491					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.V491L(2)|p.R490R(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCGCTTCCGCGTCCTGCCTGA	0.672000														19			9		0	0	0.006214	0	0
DVL2	1856	broad.mit.edu	37	17	7130442	7130442	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:7130442C>T	uc002gez.1	-	12	1792	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I	DVL2_uc010vtr.1_Missense_Mutation_p.V498I	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	504	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCGAAGACGTAATAGCAC	0.587000														67			37		0	0	0.004289	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140769049	140769049	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:140769049G>A	uc003lkc.2	+	0	1598	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	537	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCCCGCGACCAGGGC	0.677000														15			20		0	0	0.002299	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161168155	161168156	+	Frame_Shift_Ins	INS	-	AG	AG			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:161168155_161168156insAG	uc001fyt.4	-	0	690_691	c.262_263insCT	c.(262-264)tttfs	p.F88fs	ADAMTS4_uc001fyu.2_Frame_Shift_Ins_p.F88fs|NDUFS2_uc001fyv.3_5'Flank	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	88					proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGTCTCCCCAAAGGCCTGCAAG	0.668													---	17	---	---	9	---					
PSME4	23198	broad.mit.edu	37	2	54123990	54123990	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:54123990delT	uc002rxp.2	-	31	3695	c.3639delA	c.(3637-3639)aaafs	p.K1213fs	PSME4_uc010yop.1_Frame_Shift_Del_p.K1099fs|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Frame_Shift_Del_p.K588fs|PSME4_uc010fbv.1_Frame_Shift_Del_p.K357fs	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1213					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTTTAGCTGTTTAAGGATAC	0.348													---	174	---	---	74	---					
TSPAN10	83882	broad.mit.edu	37	17	79614933	79614936	+	Splice_Site	DEL	TAAC	-	-	rs137956393		TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:79614933_79614936delTAAC	uc010die.3	+	3	781	c.675_splice	c.e3-1	p.L225_splice	TSPAN10_uc010did.2_Non-coding_Transcript	NM_031945	NP_114151	Q9H1Z9	TSN10_HUMAN	Homo sapiens tetraspanin 10 (TSPAN10), mRNA.	225						integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCAGGTACTTTAACTAACTGCAGC	0.637													---	5	---	---	12	---					
TEX33	339669	broad.mit.edu	37	22	37387528	37387528	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:37387528delC	uc003aqf.3	-	4	885	c.739delG	c.(739-741)gatfs	p.D247fs	TEX33_uc003aqe.3_Frame_Shift_Del_p.D162fs	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	247																	TTACCCAGATCATCCGTCTTC	0.542													---	86	---	---	38	---					
