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
CACNA1E	777	broad.mit.edu	37	1	181707520	181707520	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:181707520C>T	uc009wxt.3	+	23	3765	c.3570C>T	c.(3568-3570)gaC>gaT	p.D1190D	CACNA1E_uc001gow.3_Silent_p.D1190D|CACNA1E_uc009wxs.3_Silent_p.D1171D|CACNA1E_uc001gox.1_Silent_p.D416D	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.D1190N(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGTATTTTGACTATGTGTTCA	0.478000													7	199					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058837	9058837	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:9058837G>T	uc002mkp.3	-	2	28813	c.28609C>A	c.(28609-28611)Cca>Aca	p.P9537T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9539	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGAAGCCTGGGGAAGAGGAA	0.483000													7	57					0.000157383	0.000157383	1	1	0
SLC2A10	81031	broad.mit.edu	37	20	45354099	45354099	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr20:45354099G>A	uc002xsl.3	+	1	521	c.424G>A	c.(424-426)Ggc>Agc	p.G142S		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	142			G -> V (in ATS).			endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity	p.A141V(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTATGAGGCAGGCATCACCGT	0.622000													6	143					0	0	1	0	0
RPUSD1	113000	broad.mit.edu	37	16	837405	837405	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:837405G>A	uc002cka.3	-	1	489	c.255C>T	c.(253-255)agC>agT	p.S85S	RPUSD1_uc002ckb.3_Silent_p.S85S|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	85					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				ACCTGTACGCGCTGCCGGCGG	0.632000													2	3					0	0	1	0	0
DEGS1	8560	broad.mit.edu	37	1	224377867	224377867	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:224377867C>T	uc001hoj.3	+	1	800	c.671C>T	c.(670-672)cCa>cTa	p.P224L		NM_003676	NP_003667	O15121	DEGS1_HUMAN	Homo sapiens delta(4)-desaturase, sphingolipid 1 (DEGS1), mRNA.	224					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GGTTTGCACCCAATTTCTGGA	0.373000													6	135					0	0	1	0	0
MLF1IP	79682	broad.mit.edu	37	4	185650178	185650178	+	Silent	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:185650178T>C	uc003iwq.3	-	2	178	c.108A>G	c.(106-108)caA>caG	p.Q36Q	MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Silent_p.Q36Q	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	36					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCTTGCACTTTTGACCAGCTT	0.373000													6	44					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50051784	50051784	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:50051784G>A	uc004dox.4	+	5	913	c.615G>A	c.(613-615)gcG>gcA	p.A205A	CCNB3_uc004doy.3_Silent_p.A205A|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	205					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATGATGCGTTTGTTATAG	0.408000													30	44					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32929682	32929682	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:32929682A>G	uc001zgy.1	+	11	3430	c.2708A>G	c.(2707-2709)cAg>cGg	p.Q903R	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.Q714R|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.Q714R	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	903					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CCTAAAGAACAGAAGTCCATG	0.398000													39	49					0	0	1	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373329	86373329	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:86373329A>T	uc010sum.2	-	5	1406	c.1247T>A	c.(1246-1248)aTt>aAt	p.I416N	MGAT4C_uc001tal.4_Missense_Mutation_p.I392N|MGAT4C_uc001taj.4_Missense_Mutation_p.I392N|MGAT4C_uc001tak.4_Missense_Mutation_p.I392N|MGAT4C_uc001tai.4_Missense_Mutation_p.I392N|MGAT4C_uc001tah.4_Missense_Mutation_p.I392N	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	392					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTTACtttaattttttttat	0.353000													6	24					0	0	1	0	0
ZCCHC12	170261	broad.mit.edu	37	X	117959418	117959418	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:117959418G>A	uc004equ.3	+	3	684	c.211G>A	c.(211-213)Gtc>Atc	p.V71I	ZCCHC12_uc022cdh.1_Missense_Mutation_p.V71I	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN	Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557000													56	32					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138738764	138738764	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:138738764C>T	uc003esy.1	-	0	1005	c.740G>A	c.(739-741)cGc>cAc	p.R247H		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	247	Pro-rich.							p.A246T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCGGCGAGCGCGCGTGGGG	0.657000													6	18					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12461542	12461542	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:12461542G>T	uc002mtr.1	-	5	1468	c.857C>A	c.(856-858)aCt>aAt	p.T286N	ZNF442_uc010xmk.1_Missense_Mutation_p.T217N	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCAGTGTGAGTTCTTTCATG	0.413000													10	131					7.03913e-09	7.26992e-09	1	1	0
DSP	1832	broad.mit.edu	37	6	7583354	7583354	+	Silent	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:7583354C>A	uc003mxp.1	+	23	6138	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T	DSP_uc003mxq.1_Silent_p.T1354T|DSP_uc021yle.1_Silent_p.T1510T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1953	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCGAGAGACCCAGACTGAGT	0.522000													29	32					1.30897e-18	1.42181e-18	1	1	0
abParts	0	broad.mit.edu	37	14	106994102	106994102	+	RNA	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr14:106994102C>A	uc021ser.1	-	233		c.9152G>T								Parts of antibodies, mostly variable regions.																		CCACCAGCTGCACCTCACACT	0.517000													33	138					1.67305e-13	1.78647e-13	1	1	0
SAA2-SAA4	100528017	broad.mit.edu	37	11	18269491	18269491	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:18269491G>A	uc021qel.1	-	1	144	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA2-SAA4_uc009yhj.3_Missense_Mutation_p.S23L|SAA2-SAA4_uc001mnz.4_Missense_Mutation_p.S23L	NM_001199744	NP_001186673			Homo sapiens SAA2-SAA4 readthrough (SAA2-SAA4), mRNA.																		GCCAAGGAACGAAAAGAAGCT	0.498000													27	37					0	0	1	0	0
PREX2	80243	broad.mit.edu	37	8	69005869	69005869	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:69005869C>A	uc003xxv.1	+	20	2307	c.2280C>A	c.(2278-2280)agC>agA	p.S760R	PREX2_uc003xxu.1_Missense_Mutation_p.S760R|PREX2_uc011lez.1_Missense_Mutation_p.S695R	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	760					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTATAATAGCATTGAGAGTG	0.423000													46	91					8.72198e-27	9.99063e-27	1	1	0
TALDO1	6888	broad.mit.edu	37	11	755990	755990	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:755990G>A	uc001lqz.3	+	1	259	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	TALDO1_uc010qwl.2_Missense_Mutation_p.R70Q|TALDO1_uc001lra.3_Missense_Mutation_p.R70Q	NM_006755	NP_006746	P37837	TALDO_HUMAN	Homo sapiens transaldolase 1 (TALDO1), mRNA.	70					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCCTATGGCCGGAAGCTGGGC	0.607000													3	30					0	0	1	0	0
HGF	3082	broad.mit.edu	37	7	81372731	81372731	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:81372731C>T	uc003uhl.3	-	6	968	c.803G>A	c.(802-804)aGg>aAg	p.R268K	HGF_uc003uhm.3_Missense_Mutation_p.R263K|HGF_uc003uhn.1_Missense_Mutation_p.R268K|HGF_uc003uho.1_Missense_Mutation_p.R263K	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	268	Kringle 2.				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						GCACCATGGCCTCGGCTGGCC	0.473000													46	41					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131917229	131917229	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:131917229A>G	uc003qcs.1	-	21	3027	c.2853T>C	c.(2851-2853)taT>taC	p.Y951Y	MED23_uc003qcq.3_Silent_p.Y957Y|MED23_uc003qcr.1_5'Flank|MED23_uc011eca.1_Silent_p.Y592Y	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	951					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGATGGGCAGATAGGGAGACT	0.423000													18	132					0	0	1	0	0
FAM90A1	55138	broad.mit.edu	37	12	8376782	8376782	+	Silent	SNP	G	G	A	rs77163560		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:8376782G>A	uc001qui.2	-	4	712	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FAM90A1_uc001quh.2_Silent_p.G51G	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	51							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGCCGTGTGGCCAAAGGCCT	0.537000													38	46					0	0	1	0	0
ATXN3L	92552	broad.mit.edu	37	X	13337542	13337542	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:13337542T>C	uc010ned.3	-	0	977	c.512A>G	c.(511-513)gAc>gGc	p.D171G		NM_001135995	NP_001129467	Q9H3M9	ATX3L_HUMAN	Homo sapiens ataxin 3-like (ATXN3L), mRNA.	171	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGCTTCACAGTCTGGCAGATC	0.393000													30	49					0	0	1	0	0
OR2T4	127074	broad.mit.edu	37	1	248525565	248525565	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:248525565A>T	uc001ieh.1	+	0	683	c.683A>T	c.(682-684)gAg>gTg	p.E228V		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E228K(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTCTATGAGATTTTCATG	0.478000													57	167					0	0	1	0	0
ZBTB39	9880	broad.mit.edu	37	12	57398076	57398076	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:57398076G>A	uc001sml.2	-	1	779	c.626C>T	c.(625-627)aCa>aTa	p.T209I	ZBTB39_uc021qzg.1_Missense_Mutation_p.T209I	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGGTCTTCTGTCTTTGGCGG	0.572000													14	83					0	0	1	0	0
POLR3A	11128	broad.mit.edu	37	10	79773462	79773462	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:79773462G>T	uc001jzn.3	-	10	1651	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	506					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAAGATGAAGGTTCATTTCAT	0.478000													45	71					2.43468e-25	2.73902e-25	1	1	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													4	12					0	0	1	0	0
BFSP2	8419	broad.mit.edu	37	3	133191307	133191307	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:133191307C>T	uc003epn.1	+	5	1280	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V		NM_003571	NP_003562	Q13515	BFSP2_HUMAN	Homo sapiens beaded filament structural protein 2, phakinin (BFSP2), mRNA.	381	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CGAGCGGAGGCGGAGCAGCAG	0.667000													16	25					0	0	1	0	0
GLRA1	2741	broad.mit.edu	37	5	151239373	151239373	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:151239373C>T	uc003lut.3	-	3	736	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	GLRA1_uc003lur.3_Missense_Mutation_p.R150Q|GLRA1_uc003lus.3_Missense_Mutation_p.R67Q	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	150					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.R150Q(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCATTCCGGGAGATCCT	0.522000													21	38					0	0	1	0	0
NLRP14	338323	broad.mit.edu	37	11	7081199	7081199	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:7081199C>T	uc001mfb.1	+	8	3031	c.2708C>T	c.(2707-2709)aCg>aTg	p.T903M		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	903					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGCCTGACGCATCTGGAT	0.453000													14	151					0	0	1	0	0
MAPK8IP3	23162	broad.mit.edu	37	16	1797211	1797211	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:1797211G>T	uc010uvl.2	+	5	1049	c.929G>T	c.(928-930)cGg>cTg	p.R310L	MAPK8IP3_uc002cmj.1_Non-coding_Transcript|MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R309L|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R309L|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R309L	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	309					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AAGCGTGCCCGGGAGAAGCGC	0.662000													24	39					1.42536e-11	1.49662e-11	1	1	0
PLXND1	23129	broad.mit.edu	37	3	129290353	129290353	+	Splice_Site	SNP	G	G	A	rs146029556		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:129290353G>A	uc003emx.2	-	17	3436	c.3336_splice	c.e17+1	p.T1112_splice		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	1112	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATGCCTCACCGTGGGCTCCCG	0.662000													23	35					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								42	50					0	0	1	0	0
D2HGDH	728294	broad.mit.edu	37	2	242707146	242707146	+	Missense_Mutation	SNP	A	A	G	rs149519095	by1000genomes	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:242707146A>G	uc002wce.1	+	9	1501	c.1328A>G	c.(1327-1329)aAt>aGt	p.N443S	D2HGDH_uc010fzq.1_Missense_Mutation_p.N309S|D2HGDH_uc002wcg.1_Non-coding_Transcript|D2HGDH_uc002wch.3_Non-coding_Transcript|D2HGDH_uc002wci.2_Missense_Mutation_p.N142S	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	443					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGCACCTCAATGTGACGGCG	0.697000													35	51					0	0	1	0	0
LIG3	3980	broad.mit.edu	37	17	33328319	33328319	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33328319C>T	uc002hik.2	+	16	2504	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	LIG3_uc002hij.3_Missense_Mutation_p.S792L	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	792					DNA ligation involved in DNA repair|DNA replication|base-excision repair|cell division|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTCTCCAAATCGGAGGCTCAT	0.532000								Other BER factors					20	32					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934739	28934739	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:28934739A>G	uc002kwp.3	+	14	2792	c.2580A>G	c.(2578-2580)tcA>tcG	p.S860S	DSG1_uc010xbp.2_Silent_p.S219S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	860					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACCAGCATCAAACGTGGTAG	0.512000													17	182					0	0	1	0	0
ZNF208	7757	broad.mit.edu	37	19	22155320	22155320	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:22155320C>T	uc021urr.1	-	3	2665	c.2516G>A	c.(2515-2517)gGc>gAc	p.G839D	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGGCTTTGCCACATTCTTT	0.373000													28	21					0	0	1	0	0
ANKRD20A5P	440482	broad.mit.edu	37	18	14179433	14179433	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:14179433G>C	uc010xag.2	+	0	338	c.40G>C	c.(40-42)Gtc>Ctc	p.V14L	ANKRD20A5P_uc002ksw.2_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 20 family, member A5, pseudogene (ANKRD20A5P), non-coding RNA.											lung(3)	3						GGGCCAGACGGTCCTGGGCTC	0.602000													4	11					0	0	1	0	0
TNRC6C	57690	broad.mit.edu	37	17	76094488	76094488	+	Silent	SNP	G	G	T	rs145461604	by1000genomes	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:76094488G>T	uc002jud.2	+	17	4971	c.4371G>T	c.(4369-4371)ctG>ctT	p.L1457L	TNRC6C_uc002juf.2_Silent_p.L1493L	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1457	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGCCTCTCTGTCTCATGAAC	0.557000													17	17					8.34094e-07	8.47547e-07	1	1	0
CHRNB3	1142	broad.mit.edu	37	8	42587448	42587448	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:42587448C>T	uc003xpi.1	+	4	1126	c.998C>T	c.(997-999)cCc>cTc	p.P333L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	333					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCCATGGCCCCCTGGGTTAAG	0.458000													7	175					0	0	1	0	0
MUC2	4583	broad.mit.edu	37	11	1101611	1101611	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:1101611G>A	uc001lsx.1	+	43	7639	c.7612G>A	c.(7612-7614)Gaa>Aaa	p.E2538K		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4904						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTGGGATTCGAAGTGAAGAG	0.642000													72	74					0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61570518	61570518	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:61570518C>T	uc010xeu.2	+	8	1560	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SERPINB2_uc002ljo.3_Silent_p.F409F|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	409					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.F409I(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTTATTTTTCGGCAGATTTT	0.388000													34	42					0	0	1	0	0
AKAP13	11214	broad.mit.edu	37	15	86262400	86262400	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:86262400A>C	uc002blv.1	+	22	6265	c.6095A>C	c.(6094-6096)cAg>cCg	p.Q2032P	AKAP13_uc002blu.1_Missense_Mutation_p.Q2036P|AKAP13_uc010bnf.1_Missense_Mutation_p.Q653P|AKAP13_uc002blw.1_Missense_Mutation_p.Q497P|AKAP13_uc002blx.1_Missense_Mutation_p.Q277P	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2032	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTTTTGAGCAGCAGATGGTA	0.483000													22	33					0	0	1	0	0
TMEM71	137835	broad.mit.edu	37	8	133764099	133764099	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:133764099G>A	uc003ytn.3	-	3	475	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TMEM71_uc003yto.3_Silent_p.C82C	NM_144649	NP_653250	Q6P5X7	TMM71_HUMAN	Homo sapiens transmembrane protein 71 (TMEM71), transcript variant 1, mRNA.	82						integral to membrane		p.C82C(2)|p.L81V(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CATCTTTGTCGCACAGGAAGC	0.468000													65	94					0	0	1	0	0
NDST1	3340	broad.mit.edu	37	5	149927941	149927941	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:149927941C>T	uc003lsk.4	+	11	2809	c.2307C>T	c.(2305-2307)caC>caT	p.H769H	NDST1_uc011dcj.2_Intron	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	769	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCTATCACGCCAACCAGG	0.627000													18	32					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127668874	127668874	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:127668874A>G	uc009yan.3	+	1	262	c.158A>G	c.(157-159)gAc>gGc	p.D53G	FANK1_uc010quk.1_Missense_Mutation_p.D47G|FANK1_uc001ljh.4_Missense_Mutation_p.D53G|FANK1_uc001lji.3_Missense_Mutation_p.D47G	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	53	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAAGAAGAAGACCCCAAAATG	0.428000													30	30					0	0	1	0	0
SEC14L1	6397	broad.mit.edu	37	17	75208130	75208130	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:75208130G>A	uc010dhc.3	+	14	2030	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	SEC14L1_uc021udw.1_Silent_p.S570S|SEC14L1_uc021udx.1_Silent_p.S570S|SEC14L1_uc002jto.3_Silent_p.S570S|SEC14L1_uc010wth.2_Silent_p.S570S|SEC14L1_uc002jtm.3_Silent_p.S570S|SEC14L1_uc010wti.2_Silent_p.S536S|SEC14L1_uc010wtj.1_Intron|SEC14L1_uc002jtr.2_5'UTR	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	570	GOLD.				transport	Golgi apparatus|integral to membrane	binding	p.R569K(1)		NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCAAGAGGTCGCCACAACCAC	0.527000													125	195					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160053205	160053205	+	Silent	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:160053205T>C	uc002uag.3	+	17	3340	c.3066T>C	c.(3064-3066)acT>acC	p.T1022T	TANC1_uc010zcm.2_Silent_p.T1014T|TANC1_uc010fom.1_Silent_p.T828T|TANC1_uc010fon.3_5'Flank	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1022						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACCTGCTGACTTGTGAGTGGT	0.667000													55	65					0	0	1	0	0
TAB1	10454	broad.mit.edu	37	22	39824142	39824142	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr22:39824142G>A	uc003axt.3	+	9	1310	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T	TAB1_uc003axr.3_Missense_Mutation_p.A497T|TAB1_uc011aok.2_Missense_Mutation_p.A255T|TAB1_uc003axu.1_Missense_Mutation_p.A421T	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	421					I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGTCAACGGGGCTCACAGTGC	0.642000													10	95					0	0	1	0	0
UNC45B	146862	broad.mit.edu	37	17	33495136	33495136	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33495136C>T	uc002hja.3	+	9	1305	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	UNC45B_uc002hjb.3_Missense_Mutation_p.S403L|UNC45B_uc002hjc.3_Missense_Mutation_p.S403L|UNC45B_uc010cto.3_Missense_Mutation_p.S403L	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	403					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGACAGTGTCAGGGATCCTG	0.547000													35	64					0	0	1	0	0
KDM4B	23030	broad.mit.edu	37	19	5131427	5131427	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:5131427G>A	uc010xim.2	+	11	1866	c.1758G>A	c.(1756-1758)gaG>gaA	p.E586E	KDM4B_uc002mbq.4_Silent_p.E552E|KDM4B_uc002mbr.4_Silent_p.E310E	NM_015015	NP_055830	O94953	KDM4B_HUMAN	Homo sapiens lysine (K)-specific demethylase 4B (KDM4B), mRNA.	552					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGCCTTTGAGCACTTTGCCC	0.657000													16	39					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52420205	52420205	+	Silent	SNP	G	G	A			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52420205G>A	uc011bef.2	+	54	8916	c.8655G>A	c.(8653-8655)cgG>cgA	p.R2885R	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2885	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGAGACCCGGAATTCAGTGC	0.557000													6	5					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79335903	79335903	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:79335903T>G	uc021yaw.1	+	1	283	c.92T>G	c.(91-93)tTt>tGt	p.F31C		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	31	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTCCCAGTCTTTGACCTTCTC	0.493000													52	66					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56827689	56827689	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56827689C>G	uc001slf.2	-	2	287	c.119G>C	c.(118-120)cGc>cCc	p.R40P	TIMELESS_uc001slg.2_Missense_Mutation_p.R40P	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	40					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTCAAATAGCGGATCAGATC	0.542000													15	147					0	0	1	0	0
DPEP2	64174	broad.mit.edu	37	16	68026419	68026419	+	Silent	SNP	G	G	A	rs151283462		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:68026419G>A	uc010cey.3	-	1	548	c.384C>T	c.(382-384)ggC>ggT	p.G128G	DPEP2_uc002eve.3_Silent_p.G128G|DPEP2_uc002evf.3_Non-coding_Transcript|DPEP2_uc002evg.3_Intron	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	128					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTACCTGGGCGCCCACGAGGC	0.567000													44	62					0	0	1	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44799776	44799776	+	Silent	SNP	C	C	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:44799776C>T	uc003tlr.3	+	7	1143	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	ZMIZ2_uc003tlq.3_Intron|ZMIZ2_uc003tls.3_Intron|ZMIZ2_uc003tlt.3_5'UTR|ZMIZ2_uc010kyj.3_5'UTR	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	340	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACGGGCAGGGCGCCAGCTTCA	0.687000													8	55					0	0	1	0	0
KLHDC10	23008	broad.mit.edu	37	7	129710591	129710591	+	Silent	SNP	T	T	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:129710591T>G	uc003vpj.2	+	0	243	c.108T>G	c.(106-108)ggT>ggG	p.G36G	KLHDC10_uc003vpk.2_Silent_p.G36G|KLHDC10_uc010lmb.2_Silent_p.G36G	NM_014997	NP_055812	Q6PID8	KLD10_HUMAN	Homo sapiens kelch domain containing 10 (KLHDC10), mRNA.	36	Gly-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						gcagcgggggtcgggggACTG	0.766000													5	18					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41393959	41393959	+	Splice_Site	SNP	G	G	T			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:41393959G>T	uc004dfk.4	-	19	1888	c.1762_splice	c.e19+1	p.H588_splice	CASK_uc004dfj.4_Splice_Site_p.H313_splice|CASK_uc004dfl.4_Splice_Site_p.H768_splice|CASK_uc004dfm.4_Splice_Site_p.H745_splice|CASK_uc004dfn.4_Splice_Site_p.H744_splice	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	773					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATTGCTTACGTGGAATAGGG	0.338000													40	51					4.44401e-20	4.9118e-20	1	1	0
C16orf86	388284	broad.mit.edu	37	16	67701892	67701892	+	Silent	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:67701892A>G	uc002ety.3	+	2	601	c.444A>G	c.(442-444)ccA>ccG	p.P148P	C16orf48_uc002etw.1_5'Flank|C16orf86_uc002etx.1_Silent_p.P163P|C16orf86_uc002etz.3_Non-coding_Transcript	NM_001012984	NP_001013002	Q6ZW13	CP086_HUMAN	Homo sapiens chromosome 16 open reading frame 86 (C16orf86), mRNA.	148										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGCCCTCACCATCTGCCAAAC	0.607000											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	29					0	0	1	0	0
PTPRJ	5795	broad.mit.edu	37	11	48149530	48149530	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:48149530A>G	uc001ngp.4	+	6	1647	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	PTPRJ_uc001ngo.4_Missense_Mutation_p.N431S	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	431	Fibronectin type-III 4.				contact inhibition|negative regulation of MAP kinase activity|negative regulation of T cell receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCTTCTACAACATCACAGTG	0.577000													52	62					0	0	1	0	0
CSF2RA	1438	broad.mit.edu	37	X	1409322	1409322	+	Missense_Mutation	SNP	G	G	A	rs147180621	byFrequency	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:1409322G>A	uc010nct.2	+	7	888	c.566G>A	c.(565-567)cGc>cAc	p.R189H	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.R189H|CSF2RA_uc004cpq.2_Missense_Mutation_p.R189H|CSF2RA_uc004cpn.2_Missense_Mutation_p.R189H|CSF2RA_uc004cpo.2_Missense_Mutation_p.R189H|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.R56H|CSF2RA_uc004cpp.2_Missense_Mutation_p.R189H|CSF2RA_uc010ncv.2_Missense_Mutation_p.R189H|CSF2RA_uc004cpr.2_Missense_Mutation_p.R189H	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	189						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R189H(3)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTAACGTCTCGCAATTACTTT	0.423000													88	178					0	0	1	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649858	75649858	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:75649858T>C	uc004ecm.2	+	0	1813	c.1535T>C	c.(1534-1536)aTc>aCc	p.I512T		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	512	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAGTACCCTATCCGGGAGTCT	0.502000													29	62					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78433338	78433339	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:78433338_78433339delTG	uc001dii.3	-	3	351_352	c.262_263delCA	c.(262-264)cagfs	p.Q88fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Del_p.Q109fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	88					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CGGTGGTAACTGTGTTCCAAAA	0.282			"""F, N"""		oligodendroglioma								35	5	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:152324558_152324559delTG	uc001ezw.4	-	2	5776_5777	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.H1901fs	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(2)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													7	476	---	---	---	---					
FAM168B	130074	broad.mit.edu	37	2	131813195	131813197	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:131813195_131813197delGGA	uc002tsd.3	-	3	455_457	c.226_228delTCC	c.(226-228)tccdel	p.S76del		NM_001009993	NP_001009993	A1KXE4	F168B_HUMAN	Homo sapiens family with sequence similarity 168, member B (FAM168B), mRNA.	76										endometrium(3)|lung(2)	5						AGGGGTTCGGGGAGGAGGAGTAC	0.586													7	125	---	---	---	---					
PBRM1	55193	broad.mit.edu	37	3	52661373	52661376	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52661373_52661376delTCTT	uc003des.2	-	12	1466_1469	c.1454_1457delAAGA	c.(1453-1458)aaagagfs	p.K485fs	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Frame_Shift_Del_p.K485fs|PBRM1_uc003der.2_Frame_Shift_Del_p.K453fs|PBRM1_uc003det.2_Frame_Shift_Del_p.K485fs|PBRM1_uc003deu.2_Frame_Shift_Del_p.K485fs|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Frame_Shift_Del_p.K485fs|PBRM1_uc010hmk.1_Frame_Shift_Del_p.K485fs|PBRM1_uc003dey.2_Frame_Shift_Del_p.K485fs|PBRM1_uc003dez.1_Frame_Shift_Del_p.K485fs|PBRM1_uc003dfb.1_Frame_Shift_Del_p.K383fs	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	485					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	DNA binding|chromatin binding|protein binding	p.E486fs*14(1)|p.K485*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTGGCAAGCTCTTTCTTCTTTGC	0.422			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								27	22	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:178916938_178916940delGAA	uc003fjk.3	+	1	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	110					T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(6)|p.E110K(4)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.340		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			39	57	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85715705	85715708	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:85715705_85715708delCAAT	uc003hpd.3	-	20	3859_3862	c.3451_3454delATTG	c.(3451-3456)attgttfs	p.I1151fs		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	1151						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGGTGGAAACAATCAGAGATCGG	0.358													49	159	---	---	---	---					
SAP30	8819	broad.mit.edu	37	4	174292617	174292619	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:174292617_174292619delAGA	uc003itd.3	+	0	525_527	c.284_286delAGA	c.(283-288)cagaag>cag	p.K97del		NM_003864	NP_003855	O75446	SAP30_HUMAN	Homo sapiens Sin3A-associated protein, 30kDa (SAP30), mRNA.	97	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AGCATCTCCCAGAAGAAGGTGAA	0.675													22	50	---	---	---	---					
DMXL1	1657	broad.mit.edu	37	5	118479596	118479598	+	In_Frame_Del	DEL	ATT	ATT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118479596_118479598delATT	uc010jcl.1	+	13	2618_2620	c.2437_2439delATT	c.(2437-2439)attdel	p.I814del	DMXL1_uc003ksd.2_In_Frame_Del_p.I814del|DMXL1_uc021ycw.1_In_Frame_Del_p.I641del	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	814										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCAGGATGCATTATTGCATTAG	0.286													122	281	---	---	---	---					
HSD17B4	3295	broad.mit.edu	37	5	118810104	118810106	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118810104_118810106delGAA	uc003ksj.3	+	3	362_364	c.229_231delGAA	c.(229-231)gaadel	p.E78del	HSD17B4_uc011cwh.2_In_Frame_Del_p.E60del|HSD17B4_uc011cwg.2_In_Frame_Del_p.E54del|HSD17B4_uc011cwi.2_In_Frame_Del_p.E103del|HSD17B4_uc003ksk.4_5'UTR|HSD17B4_uc011cwj.2_5'Flank|HSD17B4_uc010jcn.2_5'Flank	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	78	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.E77E(2)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AGATTCAGTGGAAGAAGGAGAGA	0.419													79	120	---	---	---	---					
CYFIP2	26999	broad.mit.edu	37	5	156746913	156746915	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:156746913_156746915delGAA	uc021ygm.1	+	13	1635_1637	c.1497_1499delGAA	c.(1495-1500)cggaag>cgg	p.K502del	CYFIP2_uc011ddn.2_In_Frame_Del_p.K477del|CYFIP2_uc011ddo.2_In_Frame_Del_p.K307del|CYFIP2_uc021ygn.1_In_Frame_Del_p.K502del|CYFIP2_uc021ygo.1_In_Frame_Del_p.K502del|CYFIP2_uc003lwt.3_In_Frame_Del_p.K381del|CYFIP2_uc011ddp.2_In_Frame_Del_p.K237del	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	503					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCGGTACGGAAGAAGAAGAAT	0.567													51	322	---	---	---	---					
SLC44A4	80736	broad.mit.edu	37	6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:31832672_31832674delAAG	uc010jti.3	-	18	1911_1913	c.1845_1847delCTT	c.(1843-1848)ttcttt>ttt	p.615_616FF>F	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_In_Frame_Del_p.539_540FF>F|SLC44A4_uc011dom.2_In_Frame_Del_p.573_574FF>F	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	615						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													7	25	---	---	---	---					
HDAC2	3066	broad.mit.edu	37	6	114277817	114277818	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:114277817_114277818delAA	uc003pwd.2	-	3	610_611	c.323_324delTT	c.(322-324)tttfs	p.F108fs	HDAC2_uc003pwc.2_Frame_Shift_Del_p.F78fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.F78fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	108	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	ESC/E(Z) complex|NuRD complex|Sin3 complex|cytoplasm	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.F108fs*1(2)|p.F202fs*1(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GACAAAACTCAAAGAGTCCATC	0.361													16	87	---	---	---	---					
TSPYL4	23270	broad.mit.edu	37	6	116574192	116574195	+	Frame_Shift_Del	DEL	GAAA	GAAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:116574192_116574195delGAAA	uc003pwn.3	-	0	1067_1070	c.977_980delTTTC	c.(976-981)ctttccfs	p.L326fs	DSE_uc011ebf.1_5'Flank|DSE_uc003pwo.1_5'Flank	NM_021648	NP_067680	Q9UJ04	TSYL4_HUMAN	Homo sapiens TSPY-like 4 (TSPYL4), mRNA.	326					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GATTGGAGTGGAAAGAGACACCAC	0.525													8	75	---	---	---	---					
BICD2	23299	broad.mit.edu	37	9	95527083	95527084	+	Splice_Site	INS	-	-	GCC			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:95527083_95527084insGCC	uc004asp.1	-	1	1	c.-56_splice	c.e1-1		BICD2_uc004aso.1_Splice_Site	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.						microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	Golgi apparatus|cytoplasmic vesicle|cytoskeleton|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGCCCTCCTCAgccgccgccgc	0.822													3	3	---	---	---	---					
PAEP	5047	broad.mit.edu	37	9	138453690	138453690	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:138453690delG	uc004cge.1	+	0	87	c.43delG	c.(43-45)ggtfs	p.G15fs	PAEP_uc010naw.1_Frame_Shift_Del_p.G15fs|PAEP_uc010nay.3_Frame_Shift_Del_p.G15fs|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Frame_Shift_Del_p.G15fs|PAEP_uc004cgd.1_Frame_Shift_Del_p.G15fs|PAEP_uc011mdp.1_Frame_Shift_Del_p.G15fs|PAEP_uc004cgg.1_Frame_Shift_Del_p.G15fs|PAEP_uc004cgf.1_Frame_Shift_Del_p.G15fs	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	15					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCTGGTCTGTGGTGTCCCGGC	0.667													2	4	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139412252	139412254	+	In_Frame_Del	DEL	CGT	CGT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139412252_139412254delCGT	uc004chz.3	-	7	1391_1393	c.1391_1393delACG	c.(1390-1395)gacgcc>gcc	p.D464del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	464	EGF-like 12; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGGCA	0.665			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			25	132	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139413070_139413072delAGA	uc004chz.3	-	5	1070_1072	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	357	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(6)|p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			10	20	---	---	---	---					
TCERG1L	256536	broad.mit.edu	37	10	132944858	132944861	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:132944858_132944861delCAGA	uc001lkp.3	-	6	1183_1186	c.1097_1100delTCTG	c.(1096-1101)gtctggfs	p.V366fs	TCERG1L_uc009yax.1_Non-coding_Transcript	NM_174937	NP_777597	Q5VWI1	TCRGL_HUMAN	Homo sapiens transcription elongation regulator 1-like (TCERG1L), mRNA.	366	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGGCTTCTCCCAGACAGACAGGTG	0.554													15	45	---	---	---	---					
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	57	128	---	---	---	---					
ITGB7	3695	broad.mit.edu	37	12	53586167	53586169	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:53586167_53586169delAAG	uc009zmv.3	-	12	2171_2173	c.2100_2102delCTT	c.(2098-2103)ttcttg>ttg	p.F700del	ITGB7_uc001scc.3_In_Frame_Del_p.F700del|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	700					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCCACCAAGAAGAAGAACA	0.567													42	125	---	---	---	---					
ERBB3	2065	broad.mit.edu	37	12	56495375	56495377	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56495375_56495377delGAA	uc001sjh.3	+	27	3841_3843	c.3565_3567delGAA	c.(3565-3567)gaadel	p.E1191del	ERBB3_uc009zoj.3_Non-coding_Transcript|ERBB3_uc010sqb.2_In_Frame_Del_p.E548del|ERBB3_uc010sqc.2_In_Frame_Del_p.E1132del|ERBB3_uc009zok.3_In_Frame_Del_p.E456del|ERBB3_uc001sjk.3_In_Frame_Del_p.E432del|ERBB3_uc001sjl.3_In_Frame_Del_p.E311del|PA2G4_uc001sjm.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	1191					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGGTACTGAAGAAGAAGATG	0.522													9	75	---	---	---	---					
CLPX	10845	broad.mit.edu	37	15	65443196	65443198	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:65443196_65443198delCTT	uc002aom.3	-	13	1937_1939	c.1865_1867delAAG	c.(1864-1869)gaagga>gga	p.E622del	CLPX_uc010uiu.2_Non-coding_Transcript	NM_006660	NP_006651	O76031	CLPX_HUMAN	Homo sapiens ClpX caseinolytic peptidase X homolog (E. coli) (CLPX), mRNA.	622					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CGGGGCCATCCTTCTTCTTCAAC	0.384													96	166	---	---	---	---					
ZNF573	126231	broad.mit.edu	37	19	38229203	38229203	+	Splice_Site	DEL	C	C	-	rs74268405		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:38229203delC	uc002ohe.3	-	5	2257	c.2188_splice	c.e5+1		ZNF573_uc010efs.2_Splice_Site|ZNF573_uc002ohd.3_Splice_Site|ZNF573_uc002ohf.3_Splice_Site|ZNF573_uc002ohg.3_Splice_Site|ZNF573_uc021utv.1_Splice_Site	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TTTTTTTTTTCTTAATTTACC	0.328													2	4	---	---	---	---					
CIC	23152	broad.mit.edu	37	19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:42795593_42795594delTG	uc002otf.1	+	9	2713_2714	c.2673_2674delTG	c.(2671-2676)tctgtafs	p.S891fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	891	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"""Mis, F, S"""		oligodendroglioma								49	12	---	---	---	---					
