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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	C	G	rs148702086	by1000genomes	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:16974224C>G	uc009vow.2	+	4		c.1034C>G			MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TTGGTCCCAGCCCCAGAGGGA	0.652000													4	5					0	0	1	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83307	83307	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chrGL000219.1:83307G>T	uc022brb.1	-	3	360	c.47C>A	c.(46-48)gCt>gAt	p.A16D	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		GGCCAACAAAGCCATTTTCCC	0.373000													3	19					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101381393	101381393	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:101381393G>T	uc010svm.1	+	7	1251	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Missense_Mutation_p.D192Y|ANO4_uc001thx.2_Missense_Mutation_p.D227Y	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	227						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GACACTGCCAGACCTGGAGGA	0.498000										HNSCC(74;0.22)	OREG0022059	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	24	151					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000													4	254					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	97564055	97564055	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:97564055G>A	uc001drv.3	-	20	2893	c.2756C>T	c.(2755-2757)cCt>cTt	p.P919L		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	919					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CTTGATGGTAGGAATAGGCCT	0.299000													3	121					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179637910	179637910	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:179637910A>G	uc021vsy.1	-	32	8006	c.7781T>C	c.(7780-7782)aTg>aCg	p.M2594T	TTN_uc021vsz.1_Missense_Mutation_p.M2548T|TTN_uc021vta.1_Missense_Mutation_p.M2548T|TTN_uc021vtb.1_Missense_Mutation_p.M2548T|TTN_uc002unb.2_Missense_Mutation_p.M2594T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2594							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTTCATCATATTTAGAAC	0.313000													5	54					0	0	1	0	0
ZNF616	90317	broad.mit.edu	37	19	52618945	52618945	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:52618945T>C	uc002pym.3	-	3	1755	c.1472A>G	c.(1471-1473)aAa>aGa	p.K491R	ZNF616_uc002pyn.3_Non-coding_Transcript	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN	Homo sapiens zinc finger protein 616 (ZNF616), mRNA.	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTTGTAAGGTTTCTCTCCAGT	0.403000													3	105					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429	by1000genomes	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:39274087G>C	uc002hvz.3	-	0	520	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.L161V(2)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657000													3	20					0	0	1	0	0
MAN1A1	4121	broad.mit.edu	37	6	119611907	119611907	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:119611907C>T	uc003pym.1	-	4	1280	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	MAN1A1_uc010kei.2_Missense_Mutation_p.E303K	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	280					post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		ATATTTACTTCAAAGACAGAA	0.299000													9	68					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195509182	195509182	+	Missense_Mutation	SNP	G	G	T	rs71291868		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:195509182G>T	uc021xjp.1	-	1	9425	c.9269C>A	c.(9268-9270)cCt>cAt	p.P3090H	MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|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.	831					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.P3090H(1)		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)		GCTGGTGACAGGAAGAGGGGT	0.597000													4	6					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46334800	46334800	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:46334800C>T	uc002pdn.3	-	11	1685	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	SYMPK_uc002pdo.1_Silent_p.K480K|SYMPK_uc002pdp.1_Silent_p.K480K|SYMPK_uc002pdq.2_Silent_p.K480K	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	480					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TCTTCACCACCTTCTCCTCCT	0.622000													3	17					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808006	20808006	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr19:20808006T>C	uc002npb.1	-	3	827	c.677A>G	c.(676-678)gAg>gGg	p.E226G	ZNF626_uc002npc.1_Missense_Mutation_p.E150G	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTAGGGTTTCTCTCCAGTATG	0.393000													3	97					0	0	1	0	0
PLXNA1	5361	broad.mit.edu	37	3	126730864	126730864	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:126730864A>C	uc003ejg.3	+	8	2176	c.2176A>C	c.(2176-2178)Acc>Ccc	p.T726P		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	726					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	p.T703P(2)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAAACCCATCACCCTGGCCGC	0.652000													9	115					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22880193	22880193	+	Silent	SNP	G	G	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr8:22880193G>T	uc003xcu.2	-	8	1607	c.1314C>A	c.(1312-1314)gcC>gcA	p.A438A	TNFRSF10B_uc003xcs.1_Silent_p.A203A|TNFRSF10B_uc011kzq.1_Silent_p.A258A|TNFRSF10B_uc003xcv.2_Silent_p.A336A|TNFRSF10B_uc003xct.2_Silent_p.A409A	NM_003842	NP_003833	O14763	TR10B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10b (TNFRSF10B), transcript variant 1, mRNA.	438					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	TRAIL binding|caspase activator activity|receptor activity			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		CTTAGGACATGGCAGAGTCTG	0.478000													3	41					0	0	1	0	0
PTPRA	5786	broad.mit.edu	37	20	3005196	3005196	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:3005196G>A	uc010zqd.2	+	15	1893	c.1576G>A	c.(1576-1578)Gaa>Aaa	p.E526K	PTPRA_uc002whj.3_Missense_Mutation_p.E515K|PTPRA_uc002whk.3_Missense_Mutation_p.E506K|PTPRA_uc002whl.3_Missense_Mutation_p.E506K|PTPRA_uc002whm.3_Missense_Mutation_p.E282K|PTPRA_uc002whn.3_Missense_Mutation_p.E506K|PTPRA_uc002who.3_Missense_Mutation_p.E178K	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	515					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.P526Q(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACCTCTCTAGAAACCCACCT	0.433000													15	116					0	0	1	0	0
POTEG	404785	broad.mit.edu	37	14	19553531	19553531	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr14:19553531G>A	uc001vuz.1	+	0	167	c.115G>A	c.(115-117)Ggc>Agc	p.G39S	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	39										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGGGGGAGCGGCAAGAGCAA	0.592000													5	216					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651647	121651647	+	Silent	SNP	C	C	T	rs147331896		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:121651647C>T	uc003vjy.3	+	11	2942	c.2547C>T	c.(2545-2547)acC>acT	p.T849T	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	849					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CTTCAGCTACCGAGAGTGATA	0.478000													16	109					0	0	1	0	0
TBC1D2B	23102	broad.mit.edu	37	15	78317633	78317633	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr15:78317633C>T	uc002bcy.4	-	4	1054	c.1054G>A	c.(1054-1056)Gaa>Aaa	p.E352K	TBC1D2B_uc010bla.3_Missense_Mutation_p.E352K	NM_144572	NP_653173	Q9UPU7	TBD2B_HUMAN	Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA.	352						intracellular	Rab GTPase activator activity|protein binding			breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TTTAACTGTTCCAGCTCTTCC	0.547000													9	76					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15742395	15742395	+	Silent	SNP	C	C	T			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:15742395C>T	uc001rcv.2	+	24	3887	c.3417C>T	c.(3415-3417)ggC>ggT	p.G1139G	PTPRO_uc001rcw.2_Silent_p.G1111G|PTPRO_uc001rcx.2_Silent_p.G328G|PTPRO_uc001rcy.2_Silent_p.G328G|PTPRO_uc001rcz.2_Silent_p.G300G|PTPRO_uc001rda.2_Silent_p.G300G	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	1139	Substrate binding (By similarity).|Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCAGTGCTGGCGTGGGACGGA	0.453000													7	160					0	0	1	0	0
FIBCD1	84929	broad.mit.edu	37	9	133779562	133779562	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr9:133779562G>A	uc004bzz.3	-	6	1520	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R	FIBCD1_uc011mcc.2_Silent_p.R425R	NM_032843	NP_116232	Q8N539	FBCD1_HUMAN	Homo sapiens fibrinogen C domain containing 1 (FIBCD1), transcript variant 1, mRNA.	425	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CGTGCGCACCGCGCAGGTACT	0.627000													21	88					0	0	1	0	0
TRIM24	8805	broad.mit.edu	37	7	138145410	138145410	+	Silent	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr7:138145410G>A	uc003vuc.3	+	0	332	c.117G>A	c.(115-117)ccG>ccA	p.P39P	TRIM24_uc003vub.3_Silent_p.P39P|TRIM24_uc022amn.1_5'Flank	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	39					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGCAGGGCCCGGACTCGGAGC	0.766000													2	5					0	0	1	0	0
STK32C	282974	broad.mit.edu	37	10	134040390	134040390	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:134040390T>C	uc010quu.1	-	3	708	c.592A>G	c.(592-594)Aac>Gac	p.N198D	STK32C_uc001lld.1_Missense_Mutation_p.N68D|STK32C_uc001lle.1_Missense_Mutation_p.N185D|STK32C_uc009ybc.1_Missense_Mutation_p.N68D|STK32C_uc009ybd.1_Missense_Mutation_p.N68D|STK32C_uc001llb.2_5'UTR|STK32C_uc001llc.1_Non-coding_Transcript	NM_173575	NP_775846	Q86UX6	ST32C_HUMAN	Homo sapiens serine/threonine kinase 32C (STK32C), mRNA.	185	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		AACTGCACGTTCTGCTGCAGG	0.612000													7	65					0	0	1	0	0
GBF1	8729	broad.mit.edu	37	10	104136749	104136749	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr10:104136749G>A	uc001kux.2	+	32	4637	c.4343G>A	c.(4342-4344)cGc>cAc	p.R1448H	GBF1_uc001kuy.2_Missense_Mutation_p.R1448H|GBF1_uc001kuz.2_Missense_Mutation_p.R1449H	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1448					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AAAGGGAACCGCTTCAAGAAG	0.517000													4	109					0	0	1	0	0
ATP9A	10079	broad.mit.edu	37	20	50307319	50307319	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr20:50307319G>A	uc002xwg.1	-	7	682	c.682C>T	c.(682-684)Cca>Tca	p.P228S	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	228					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAATATTTGGCTCTTCTGCG	0.463000													6	155					0	0	1	0	0
UCK2	7371	broad.mit.edu	37	1	165872479	165872479	+	Missense_Mutation	SNP	C	C	A	rs36009659	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr1:165872479C>A	uc001gdp.3	+	4	899	c.560C>A	c.(559-561)aCg>aAg	p.T187K	UCK2_uc010plb.2_Missense_Mutation_p.T49K	NM_012474	NP_036606	Q9BZX2	UCK2_HUMAN	Homo sapiens uridine-cytidine kinase 2 (UCK2), mRNA.	187					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CAGTACATTACGTTCGTCAAG	0.383000													3	120					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27022376	27022376	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:27022376A>G	uc010crt.3	+	29	3973	c.3781A>G	c.(3781-3783)Atg>Gtg	p.M1261V	SUPT6H_uc002hby.3_Missense_Mutation_p.M1261V	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	1261	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ctaGGTGGGAATGACTGTTCA	0.488000													10	29					0	0	1	0	0
HOXB2	3212	broad.mit.edu	37	17	46620496	46620496	+	Silent	SNP	A	A	G			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr17:46620496A>G	uc002inm.3	-	1	1125	c.1005T>C	c.(1003-1005)ccT>ccC	p.P335P		NM_002145	NP_002136	P14652	HXB2_HUMAN	Homo sapiens homeobox B2 (HOXB2), mRNA.	335					blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P335P(4)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CCTCGGAAAAAGGGACCGGGC	0.587000													4	144					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166229841	166229841	+	Missense_Mutation	SNP	G	G	A	rs121917753		TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr2:166229841G>A	uc002udc.3	+	20	4246	c.3956G>A	c.(3955-3957)cGg>cAg	p.R1319Q	SCN2A_uc002udd.3_Missense_Mutation_p.R1319Q|SCN2A_uc002ude.3_Missense_Mutation_p.R1319Q	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	1319			R -> Q (in BFIC3).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTTTGTCCCGGTTTGAAGGA	0.433000													11	52					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62777707	62777707	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr12:62777707A>C	uc001src.2	+	9	1251	c.1176A>C	c.(1174-1176)ttA>ttC	p.L392F	USP15_uc001srb.2_Missense_Mutation_p.L363F	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	392					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TAGATGGATTACATGAGGATT	0.368000													10	42					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13612699	13612701	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:13612699_13612701delGAG	uc011avc.2	+	1	1226_1228	c.844_846delGAG	c.(844-846)gagdel	p.E286del	FBLN2_uc011auz.2_In_Frame_Del_p.E312del|FBLN2_uc011avb.2_In_Frame_Del_p.E286del|FBLN2_uc011ava.2_In_Frame_Del_p.E286del	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	286	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ggaggaagaagaggaggaggagg	0.655													2	4	---	---	---	---					
ZBTB47	92999	broad.mit.edu	37	3	42700747	42700749	+	In_Frame_Del	DEL	GGA	-	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr3:42700747_42700749delGGA	uc003clu.2	+	1	1181_1183	c.900_902delGGA	c.(898-903)cgggag>cgg	p.E307del		NM_145166	NP_660149	Q9UFB7	ZBT47_HUMAN	Homo sapiens zinc finger and BTB domain containing 47 (ZBTB47), mRNA.	33					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		gcagtggacgggaggaggaggag	0.626													2	4	---	---	---	---					
MAN2A1	4124	broad.mit.edu	37	5	109124684	109124684	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr5:109124684delT	uc003kou.1	+	10	2773	c.1810delT	c.(1810-1812)tttfs	p.F604fs		NM_002372	NP_002363	Q16706	MA2A1_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 1 (MAN2A1), mRNA.	604					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAATTCTGCATTTCTTCTTAT	0.303													15	59	---	---	---	---					
LAMA2	3908	broad.mit.edu	37	6	129762070	129762072	+	In_Frame_Del	DEL	GAA	-	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:129762070_129762072delGAA	uc021zfb.1	+	42	6300_6302	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del	LAMA2_uc003qbn.3_In_Frame_Del_p.K2067del|LAMA2_uc003qbo.3_In_Frame_Del_p.K2067del	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2067	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438													7	38	---	---	---	---					
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr6:155743925_155743926delCA	uc003qqm.3	-	9	1313_1314	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	404							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.530													7	221	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	-	-	rs2234451	byFrequency	TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr11:5529918_5529920delTGG	uc021qcw.1	-	0	869_871	c.869_871delCCA	c.(868-873)accagc>agc	p.T290del	HBG1_uc001mak.1_Intron|UBQLN3_uc001may.1_In_Frame_Del_p.T290del	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													7	196	---	---	---	---					
THSD1P1	374500	broad.mit.edu	37	13	52796688	52796688	+	RNA	DEL	C	-	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr13:52796688delC	uc001vgn.3	-	6		c.629delG			THSD1P1_uc001vgm.1_Intron					Homo sapiens mRNA; cDNA DKFZp434F1622 (from clone DKFZp434F1622).																		cgctattgctccccacccatc	0.537													3	4	---	---	---	---					
MYH9	4627	broad.mit.edu	37	22	36689419	36689421	+	In_Frame_Del	DEL	CCT	-	-			TCGA-EJ-7794-01A-11D-2114-08	TCGA-EJ-7794-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72ce9985-5383-41a0-a73d-5284713c9bba	a72932e7-2901-4401-8f43-07c9a529e422	g.chr22:36689419_36689421delCCT	uc003apg.3	-	29	4280_4282	c.4049_4051delAGG	c.(4048-4053)gaggcc>gcc	p.E1350del		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1350				E -> EE (in Ref. 7).	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGTGCTTGGCCTCCTCCTCCTC	0.650			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	108	---	---	---	---					
