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
ZC3H3	23144	broad.mit.edu	37	8	144523269	144523269	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:144523269G>A	ENST00000262577.5	-	10	2360	c.2329C>T	c.(2329-2331)Ctg>Ttg	p.L777L		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	777					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TCGGGGCACAGCAGCGTGTGT	0.697000													5	13					0	0	1	0	0
FAM66D	100132923	broad.mit.edu	37	8	11986053	11986053	+	RNA	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:11986053G>A	ENST00000434078.2	+	0	608					NR_027425.1																						CACAATGATAGGCATTCTCTC	0.507000													7	84					0	0	1	0	0
GIMAP1	170575	broad.mit.edu	37	7	150416178	150416178	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:150416178G>A	ENST00000307194.5	+	2	183	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAATGTCTATGGTAAGACCAT	0.413000													45	56					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081421	126081421	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr11:126081421G>C	ENST00000298317.4	-	1	166	c.113C>G	c.(112-114)tCt>tGt	p.S38C	RPUSD4_ENST00000533628.1_Missense_Mutation_p.S38C|FAM118B_ENST00000533050.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	38					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TATGGCCGTAGAGGCAGCGGC	0.592000													82	233					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33587684	33587684	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr20:33587684A>G	ENST00000262873.7	+	36	4974	c.4882A>G	c.(4882-4884)Aaa>Gaa	p.K1628E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1586						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GCTGGCAGAGAAAGACGAGGA	0.607000													7	36					0	0	1	0	0
ASIC2	40	broad.mit.edu	37	17	32483404	32483404	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:32483404C>T	ENST00000359872.6	-	1	909	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_001094.4	NP_001085.2	Q16515	ACCN1_HUMAN	acid-sensing (proton-gated) ion channel 2	50					central nervous system development|peripheral nervous system development|synaptic transmission	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	p.V50M(1)								Amiloride(DB00594)	AGAGAGCCCACGAAGGCCACT	0.592000													30	35					0	0	1	0	0
IRS2	8660	broad.mit.edu	37	13	110434736	110434736	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr13:110434736G>A	ENST00000375856.3	-	1	4179	c.3665C>T	c.(3664-3666)cCg>cTg	p.P1222L		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1222					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GGGCTGACCCGGGGTCCACGG	0.716000													22	39					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87410627	87410627	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:87410627C>G	ENST00000517970.1	+	6	698	c.391C>G	c.(391-393)Caa>Gaa	p.Q131E	WWP1_ENST00000341922.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.Q131E|WWP1_ENST00000349423.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	131					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TGGCATAGCACAAACTGGTGA	0.338000													58	127					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113575243	113575243	+	Silent	SNP	T	T	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:113575243T>C	ENST00000509061.1	+	14	1920	c.1617T>C	c.(1615-1617)taT>taC	p.Y539Y	LARP7_ENST00000344442.5_Silent_p.Y532Y|LARP7_ENST00000324052.6_Silent_p.Y532Y	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	532					RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAAAGGTATTGGCAGAAGA	0.333000													51	20					0	0	1	0	0
KHDC3L	154288	broad.mit.edu	37	6	74073406	74073406	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr6:74073406G>A	ENST00000370367.3	+	3	530	c.477G>A	c.(475-477)tcG>tcA	p.S159S		NM_001017361.2	NP_001017361.1			KH domain containing 3-like, subcortical maternal complex member																		CCCAGCGTTCGGTGGAAGTCC	0.677000													55	5					0	0	1	0	0
ALOX5	240	broad.mit.edu	37	10	45869865	45869865	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr10:45869865C>G	ENST00000374391.2	+	1	191	c.138C>G	c.(136-138)ttC>ttG	p.F46L	ALOX5_ENST00000542434.1_Missense_Mutation_p.F46L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	46	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACAACGACTTCGAGCGTGGCG	0.706000													4	8					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66913585	66913585	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:66913585T>A	ENST00000269080.2	-	15	2072	c.1935A>T	c.(1933-1935)aaA>aaT	p.K645N	ABCA8_ENST00000430352.2_Missense_Mutation_p.K685N|ABCA8_ENST00000586539.1_Missense_Mutation_p.K685N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	645	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAGAAATACTTTCCTGTCTG	0.373000													33	158					0	0	1	0	0
VPS39	23339	broad.mit.edu	37	15	42458791	42458791	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr15:42458791C>T	ENST00000318006.5	-	15	1738	c.1576G>A	c.(1576-1578)Gag>Aag	p.E526K	VPS39_ENST00000348544.4_Missense_Mutation_p.E537K	NM_015289.2	NP_056104.2	Q96JC1	VPS39_HUMAN	vacuolar protein sorting 39 homolog (S. cerevisiae)	537					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ACTGTCCTCTCGTGGCCTTTC	0.552000													22	47					0	0	1	0	0
FGR	2268	broad.mit.edu	37	1	27940977	27940977	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:27940977G>A	ENST00000374005.3	-	11	1501	c.1213C>T	c.(1213-1215)Cgt>Tgt	p.R405C	FGR_ENST00000399173.1_Missense_Mutation_p.R405C|FGR_ENST00000374004.1_Missense_Mutation_p.R405C|FGR_ENST00000545953.1_Missense_Mutation_p.R339C	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	405	Protein kinase.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTGATGAGACGCGCCAAGCCA	0.592000													3	39					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104898250	104898250	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:104898250G>T	ENST00000507740.1	+	2	1083	c.847G>T	c.(847-849)Gaa>Taa	p.E283*	RIMS2_ENST00000262231.10_Nonsense_Mutation_p.E283*|RIMS2_ENST00000436393.2_Nonsense_Mutation_p.E253*|RIMS2_ENST00000406091.3_Nonsense_Mutation_p.E475*	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	506					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.E283K(1)|p.E511K(1)|p.E253K(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAAAAAATGGAAACAATGTT	0.438000										HNSCC(12;0.0054)			5	145					1.024e-07	1.04614e-07	1	1	0
COPA	1314	broad.mit.edu	37	1	160261931	160261931	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:160261931G>A	ENST00000241704.7	-	29	3247	c.3018C>T	c.(3016-3018)ctC>ctT	p.L1006L	COPA_ENST00000368069.3_Silent_p.L1015L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1006					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCGTTGGATGAGGTCATTAA	0.502000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	75	299					0	0	1	0	0
GATA4	2626	broad.mit.edu	37	8	11614473	11614473	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:11614473G>T	ENST00000335135.4	+	6	1585	c.1027G>T	c.(1027-1029)Gcc>Tcc	p.A343S	GATA4_ENST00000528712.1_Missense_Mutation_p.A137S|GATA4_ENST00000532059.1_Missense_Mutation_p.A344S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	343					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCTTCCTCCCGCCAGCGGTGC	0.617000													75	149					2.6465e-34	2.87465e-34	1	1	0
GTPBP6	8225	broad.mit.edu	37	X	229432	229432	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chrX:229432C>A	ENST00000326153.4	-	2	229		c.e2+1					O43824	GTPB6_HUMAN	GTP binding protein 6 (putative)							intracellular	GTP binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)	7		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CGCGTGCTCACCGCAGTTGGT	0.701000													28	30					4.87955e-14	5.15216e-14	1	1	0
DBI	1622	broad.mit.edu	37	2	120128374	120128374	+	Silent	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:120128374G>C	ENST00000542275.1	+	3	453	c.369G>C	c.(367-369)ctG>ctC	p.L123L	DBI_ENST00000393103.2_Silent_p.L63L|DBI_ENST00000535617.1_Silent_p.L104L|DBI_ENST00000409094.1_Silent_p.L79L|DBI_ENST00000535757.1_Silent_p.L79L|DBI_ENST00000460901.1_3'UTR|DBI_ENST00000311521.4_Silent_p.L79L|DBI_ENST00000355857.3_Silent_p.L62L	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	62					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						GGAATGAGCTGAAAGGTAATT	0.423000													7	7					0	0	1	0	0
CELA3B	23436	broad.mit.edu	37	1	22310796	22310796	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:22310796C>A	ENST00000337107.6	+	6	633	c.614C>A	c.(613-615)gCt>gAt	p.A205D	CELA3B_ENST00000473526.1_3'UTR	NM_007352.2	NP_031378.1	P08861	CEL3B_HUMAN	chymotrypsin-like elastase family, member 3B	205	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						ATGGTGTGTGCTGGAGGGGAC	0.612000													17	175					7.41877e-09	7.62037e-09	1	1	0
GPR158	57512	broad.mit.edu	37	10	25887393	25887393	+	Silent	SNP	A	A	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr10:25887393A>C	ENST00000376351.3	+	11	3197	c.2838A>C	c.(2836-2838)tcA>tcC	p.S946S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	946						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAATCACTCAAATTCTGATA	0.428000													81	150					0	0	1	0	0
BTF3	689	broad.mit.edu	37	5	72798326	72798326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:72798326G>C	ENST00000380591.3	+	3	434	c.215G>C	c.(214-216)aGa>aCa	p.R72T	BTF3_ENST00000514505.2_3'UTR|BTF3_ENST00000335895.8_Missense_Mutation_p.R28T	NM_001037637.1	NP_001032726.1	P20290	BTF3_HUMAN	basic transcription factor 3	72				Missing (in Ref. 2; AAA58398).	regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Lung NSC(167;0.00405)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;2.73e-54)		ACTGCTCGCAGAAAGAAGAAG	0.378000													9	41					0	0	1	0	0
ATP8B4	79895	broad.mit.edu	37	15	50152544	50152544	+	Silent	SNP	G	G	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr15:50152544G>T	ENST00000284509.6	-	28	3567	c.3426C>A	c.(3424-3426)atC>atA	p.I1142I	ATP8B4_ENST00000559829.1_Silent_p.I1142I	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	1142					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCCAGATGTGATAAGCTCTC	0.463000													38	66					4.14481e-20	4.40095e-20	1	1	0
GRIK5	2901	broad.mit.edu	37	19	42507489	42507489	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:42507489C>T	ENST00000262895.3	-	18	2508	c.2509G>A	c.(2509-2511)Gag>Aag	p.E837K	GRIK5_ENST00000301218.4_Missense_Mutation_p.E837K|GRIK5_ENST00000593562.1_Missense_Mutation_p.E837K	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	837						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTCACCTCCTCGGACTCAGCT	0.587000													38	20					0	0	1	0	0
AADACL4	343066	broad.mit.edu	37	1	12704655	12704655	+	Silent	SNP	C	C	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:12704655C>A	ENST00000376221.1	+	1	90	c.90C>A	c.(88-90)acC>acA	p.T30T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	30						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		ACTTCCTCACCACGGATATCC	0.532000													4	250					1	1	1	1	0
SLC27A1	376497	broad.mit.edu	37	19	17598009	17598009	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:17598009G>T	ENST00000252595.7	+	3	686	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	SLC27A1_ENST00000598424.1_Missense_Mutation_p.G18W|SLC27A1_ENST00000442725.1_Missense_Mutation_p.G197W	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	197	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CGGGCATCTGGGGAAAAGTTT	0.642000													16	42					1.99824e-07	2.01961e-07	1	1	0
PSG2	5670	broad.mit.edu	37	19	43576025	43576025	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:43576025T>C	ENST00000406487.1	-	4	889	c.791A>G	c.(790-792)aAc>aGc	p.N264S		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	264	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TGGGTTAGAGTTCGCGAAGCA	0.443000													89	173					0	0	1	0	0
BCAT2	587	broad.mit.edu	37	19	49303479	49303479	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:49303479G>A	ENST00000402551.1	-	5	876	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	BCAT2_ENST00000597011.1_Missense_Mutation_p.R86W|BCAT2_ENST00000545387.2_Missense_Mutation_p.R34W|BCAT2_ENST00000598162.1_Missense_Mutation_p.R126W|BCAT2_ENST00000316273.6_Missense_Mutation_p.R126W|BCAT2_ENST00000599246.1_Missense_Mutation_p.R34W	NM_001284325.1	NP_001271254.1	O15382	BCAT2_HUMAN	branched chain amino-acid transaminase 2, mitochondrial	126						mitochondrial matrix	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	12		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.000366)|Epithelial(262;0.0195)|GBM - Glioblastoma multiforme(486;0.0224)	L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|Pyridoxal Phosphate(DB00114)	CGCAGCATCCGGTCCATGTTG	0.697000													20	46					0	0	1	0	0
FEZ1	9638	broad.mit.edu	37	11	125359415	125359415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr11:125359415C>T	ENST00000278919.3	-	2	493	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	FEZ1_ENST00000524435.1_Missense_Mutation_p.V87M|FEZ1_ENST00000366139.3_Missense_Mutation_p.V87M	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	87					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TGGTTCTTCACGGGAGCTAGG	0.493000													6	158					0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175365806	175365806	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:175365806G>A	ENST00000367674.2	-	5	1822	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	TNR_ENST00000263525.2_Missense_Mutation_p.R372W			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGGCACCCGCTGCTGGAGC	0.597000													21	72					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35725306	35725306	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:35725306C>T	ENST00000314888.9	-	3	496	c.143G>A	c.(142-144)gGg>gAg	p.G48E	TLN1_ENST00000540444.1_Missense_Mutation_p.G48E	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	48					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAAAGAGCCCAAAGTCGCT	0.478000													11	32					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180999	140180999	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:140180999G>A	ENST00000522353.2	+	1	217	c.217G>A	c.(217-219)Gac>Aac	p.D73N	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.D73N	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACACGGGGACCTTCTGGA	0.622000													180	109					0	0	1	0	0
AGAP11	119385	broad.mit.edu	37	10	88754630	88754630	+	RNA	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr10:88754630G>A	ENST00000444431.1	+	0	305				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										ACATTAACATGATGATTGATC	0.413000													14	21					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52441219	52441219	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr3:52441219T>G	ENST00000460680.1	-	7	1022	c.551A>C	c.(550-552)gAt>gCt	p.D184A	BAP1_ENST00000296288.5_Missense_Mutation_p.D184A	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	184		Important for enzyme activity (By similarity).			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTTCAGCCCATCCAGCTCAAA	0.592000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							26	30					0	0	1	0	0
KCNH4	23415	broad.mit.edu	37	17	40317675	40317675	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:40317675G>A	ENST00000264661.3	-	11	2209	c.1877C>T	c.(1876-1878)cCg>cTg	p.P626L	KCNH4_ENST00000607371.1_Missense_Mutation_p.P626L	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	626					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTCCTGCCCCGGCTCAGGGAT	0.577000													21	60					0	0	1	0	0
ITGA6	3655	broad.mit.edu	37	2	173354269	173354269	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:173354269G>A	ENST00000375221.2	+	21	2882	c.2679G>A	c.(2677-2679)caG>caA	p.Q893Q	ITGA6_ENST00000264106.6_Silent_p.Q893Q|ITGA6_ENST00000343713.4_Silent_p.Q849Q|ITGA6_ENST00000409080.1_Silent_p.Q854Q|ITGA6_ENST00000409532.1_Silent_p.Q735Q|ITGA6_ENST00000264107.7_Silent_p.Q854Q|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	893					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TGAACATTCAGTGGCCAAAAG	0.353000													12	31					0	0	1	0	0
HNRNPC	3183	broad.mit.edu	37	14	21679423	21679423	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr14:21679423C>T	ENST00000430246.2	-	8	3792	c.841G>A	c.(841-843)Gag>Aag	p.E281K	HNRNPC_ENST00000557201.1_Missense_Mutation_p.E294K|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000553300.1_Missense_Mutation_p.E281K|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000555914.1_Missense_Mutation_p.E280K|HNRNPC_ENST00000555883.1_Missense_Mutation_p.E238K|HNRNPC_ENST00000554455.1_Missense_Mutation_p.E294K|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000420743.2_Missense_Mutation_p.E294K|HNRNPC_ENST00000320084.7_Missense_Mutation_p.E294K|HNRNPC_ENST00000556897.1_Missense_Mutation_p.E281K|HNRNPC_ENST00000555309.1_Missense_Mutation_p.E293K|HNRNPC_ENST00000556628.1_Missense_Mutation_p.E214K|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000554969.1_Missense_Mutation_p.E281K|HNRNPC_ENST00000449098.1_Missense_Mutation_p.E281K			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	294	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CTGTCATCCTCTCCTTCCTCA	0.468000													7	262					0	0	1	0	0
RAC1	5879	broad.mit.edu	37	7	6426883	6426883	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:6426883A>G	ENST00000348035.4	+	2	289	c.76A>G	c.(76-78)Aat>Gat	p.N26D	RAC1_ENST00000488373.1_3'UTR|RAC1_ENST00000356142.4_Missense_Mutation_p.N26D	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	26			N -> D (in dbSNP:rs5830).		actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TTACACAACCAATGCATTTCC	0.348000													31	47					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113768274	113768274	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr13:113768274C>T	ENST00000375581.3	+	5	465	c.430C>T	c.(430-432)Cac>Tac	p.H144Y	F7_ENST00000346342.3_Splice_Site_p.H122Y|F7_ENST00000541084.1_Splice_Site_p.H75Y|F7_ENST00000473085.1_3'UTR	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	144					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CTGTGAGACGCGTAAGGCCCC	0.632000													97	25					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372119	126372119	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:126372119T>G	ENST00000394329.3	+	9	9961	c.9948T>G	c.(9946-9948)atT>atG	p.I3316M	FAT4_ENST00000335110.5_Missense_Mutation_p.I1614M	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3316	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGTACTATTGTTGGAGAAG	0.378000													4	118					0	0	1	0	0
HNRNPU	3192	broad.mit.edu	37	1	245027590	245027590	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:245027590T>C	ENST00000444376.2	-	1	254	c.20A>G	c.(19-21)aAt>aGt	p.N7S	HNRNPU_ENST00000283179.9_Missense_Mutation_p.N7S	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	7	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CTTTTTTACATTAACAGGCGA	0.597000													9	34					0	0	1	0	0
STK10	6793	broad.mit.edu	37	5	171583660	171583660	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:171583660G>C	ENST00000176763.5	-	2	632	c.289C>G	c.(289-291)Ctg>Gtg	p.L97V		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	97	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TAGGCTCCCAGGAGCTTCACA	0.597000													57	39					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167095767	167095767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:167095767C>T	ENST00000361200.2	+	6	1565	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	DUSP27_ENST00000443333.1_Missense_Mutation_p.R467C|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R467C			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	467					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGGAGGCGCCGCGCAGACTC	0.652000													4	35					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41518655	41518655	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:41518655C>T	ENST00000324071.4	+	8	1236	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	CYP2B6_ENST00000330446.5_Missense_Mutation_p.P210L|CYP2B6_ENST00000593831.1_Missense_Mutation_p.P174L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	410					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GCCTTCAATCCTGACCACTTT	0.468000													45	217					0	0	1	0	0
EYA4	2070	broad.mit.edu	37	6	133789711	133789711	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr6:133789711C>G	ENST00000367895.5	+	11	1276	c.812C>G	c.(811-813)cCa>cGa	p.P271R	EYA4_ENST00000355167.3_Missense_Mutation_p.P271R|EYA4_ENST00000355286.6_Missense_Mutation_p.P248R|EYA4_ENST00000430974.2_Missense_Mutation_p.P217R|EYA4_ENST00000431403.2_Missense_Mutation_p.P271R|EYA4_ENST00000452339.2_Missense_Mutation_p.P217R|EYA4_ENST00000525849.1_Missense_Mutation_p.P248R|EYA4_ENST00000531901.1_Missense_Mutation_p.P271R	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	271					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGGATTATCCATCCTATACA	0.383000													5	59					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs150656228	by1000genomes	TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458000													2	0					0	0	1	0	0
CACNA2D4	93589	broad.mit.edu	37	12	1953673	1953673	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr12:1953673C>T	ENST00000382722.5	-	25	2727	c.2365G>A	c.(2365-2367)Gag>Aag	p.E789K	CACNA2D4_ENST00000585732.1_Missense_Mutation_p.E650K|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E725K|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E789K|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E764K|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E725K	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	789						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		ACGCTGGCCTCGTCCTCAGGT	0.577000													10	34					0	0	1	0	0
RLBP1	6017	broad.mit.edu	37	15	89761812	89761812	+	Missense_Mutation	SNP	C	C	T	rs142495448	byFrequency	TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr15:89761812C>T	ENST00000268125.5	-	4	564	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	42					response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CAAGGTGTGGCGGGGCAGCTG	0.592000													27	58					0	0	1	0	0
ZNF649	65251	broad.mit.edu	37	19	52394762	52394762	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:52394762G>A	ENST00000354957.3	-	5	911	c.627C>T	c.(625-627)agC>agT	p.S209S	ZNF649_ENST00000600738.1_Silent_p.S209S|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCCCACACAAGCTACACACGT	0.493000													7	117					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31288244	31288244	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr16:31288244G>A	ENST00000544665.3	+	11	1158	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	ITGAM_ENST00000287497.8_Missense_Mutation_p.G363S	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	363					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCCCAGAATGGCCCCTTGCT	0.498000													10	11					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8235217	8235217	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:8235217G>A	ENST00000539824.1	+	14	3405	c.3031G>A	c.(3031-3033)Gag>Aag	p.E1011K	SH3TC1_ENST00000245105.3_Missense_Mutation_p.E1087K			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1087							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCGGCAGAGCGAGCTGGTGGA	0.522000													26	0					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78317761	78317761	+	Silent	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:78317761C>T	ENST00000582970.1	+	28	6431	c.6288C>T	c.(6286-6288)atC>atT	p.I2096I	RNF213_ENST00000336301.6_Silent_p.I169I|RNF213_ENST00000508628.2_Silent_p.I2145I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.I2145I(1)|p.I169I(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ATTTGTATATCGTTGAAATCC	0.493000													35	160					0	0	1	0	0
HECTD4	283450	broad.mit.edu	37	12	112616995	112616995	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr12:112616995C>G	ENST00000550722.1	-	63	11151	c.10756G>C	c.(10756-10758)Gag>Cag	p.E3586Q	HECTD4_ENST00000377560.5_Missense_Mutation_p.E3560Q|HECTD4_ENST00000430131.2_Missense_Mutation_p.E3310Q	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		AGCTGATCCTCCAGCACCTTT	0.607000													10	25					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237754216	237754216	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:237754216G>A	ENST00000366574.2	+	31	4401	c.4084G>A	c.(4084-4086)Gac>Aac	p.D1362N	RYR2_ENST00000542537.1_Missense_Mutation_p.D1346N|RYR2_ENST00000360064.6_Missense_Mutation_p.D1360N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1362	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGTTGACAAAGACAAAGAAGC	0.423000													20	64					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140615850	140615850	+	RNA	SNP	T	T	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:140615850T>A	ENST00000526308.1	+	0	1913					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						TGCACCGAGCTGGTACCTCGG	0.692000													41	164					0	0	1	0	0
PPP2R2A	5520	broad.mit.edu	37	8	26218598	26218598	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:26218598G>A	ENST00000380737.3	+	6	897	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.E200K	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGTGATTATGAAACATATTT	0.358000													23	107					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2661737	2661737	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:2661737G>A	ENST00000324666.5	+	8	1179	c.828G>A	c.(826-828)caG>caA	p.Q276Q	FAM193A_ENST00000545951.1_Silent_p.Q276Q|FAM193A_ENST00000505311.1_Silent_p.Q276Q|FAM193A_ENST00000382839.3_Silent_p.Q276Q|FAM193A_ENST00000502458.1_Silent_p.Q300Q	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	276										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAATTCAGCAGCACCCCAGGC	0.522000													16	30					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74003232	74003232	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:74003232G>A	ENST00000301607.3	-	22	6307	c.6054C>T	c.(6052-6054)taC>taT	p.Y2018Y	EVPL_ENST00000586740.1_Silent_p.Y2040Y	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	2018	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTAGCAGCGGTACCCCTCCA	0.682000													56	52					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13914697	13914697	+	Missense_Mutation	SNP	C	C	T	rs140388814	by1000genomes	TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:13914697C>T	ENST00000265104.4	-	10	1356	c.1252G>A	c.(1252-1254)Gct>Act	p.A418T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	418	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGATGGAAGCGGTTCCATTA	0.353000									Kartagener syndrome				27	56					0	0	1	0	0
KIAA0368	23392	broad.mit.edu	37	9	114178593	114178593	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:114178593C>T	ENST00000259335.4	-	19	2256	c.2257G>A	c.(2257-2259)Ggg>Agg	p.G753R	KIAA0368_ENST00000338205.5_Missense_Mutation_p.G575R	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACAGTGGTCCCGGTCATGTAC	0.388000													3	49					0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196967342	196967342	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:196967342A>G	ENST00000367414.5	+	7	1183	c.1127A>G	c.(1126-1128)aAt>aGt	p.N376S	CFHR5_ENST00000256785.4_Missense_Mutation_p.N352S	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	352	Sushi 6.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTAATCATAATTCTAGAATA	0.338000													6	26					0	0	1	0	0
PMS2	5395	broad.mit.edu	37	7	6026490	6026490	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:6026490C>T	ENST00000265849.7	-	11	2011	c.1906G>A	c.(1906-1908)Gca>Aca	p.A636T	PMS2_ENST00000406569.3_Intron|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.A530T	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	636					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTTGCTGTGCTTCATGATGT	0.388000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				8	113					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6169989	6169989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:6169989G>A	ENST00000262450.3	-	38	5543	c.5444C>T	c.(5443-5445)aCg>aTg	p.T1815M	CHD5_ENST00000378021.1_Missense_Mutation_p.T672M	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1815					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGGGTCCTGCGTCATGTTCAG	0.701000													67	40					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52439898	52439898	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr3:52439898G>A	ENST00000460680.1	-	10	1285	c.814C>T	c.(814-816)Cag>Tag	p.Q272*	BAP1_ENST00000296288.5_Nonsense_Mutation_p.Q254*	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	272					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I271fs*61(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		TTGTGGGTCTGAATCAGCTCT	0.542000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							26	46					0	0	1	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651507	121651507	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:121651507G>A	ENST00000393386.2	+	12	2818	c.2407G>A	c.(2407-2409)Gtc>Atc	p.V803I	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	803					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTTCCCAGTGTCGATGTGTC	0.468000													128	171					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101489363	101489363	+	Silent	SNP	G	G	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr10:101489363G>T	ENST00000370483.5	-	2	269	c.219C>A	c.(217-219)ctC>ctA	p.L73L	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Silent_p.L73L	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	73					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGCAGACCAGGAGCCATCGGC	0.512000													5	237					0.000602214	0.000605418	1	1	0
R3HDM2	22864	broad.mit.edu	37	12	57677620	57677620	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr12:57677620C>G	ENST00000402412.1	-	13	1548	c.1158G>C	c.(1156-1158)agG>agC	p.R386S	R3HDM2_ENST00000347140.3_Missense_Mutation_p.R372S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R372S|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R33S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R372S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.R99S|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	372						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCTGGAGATCCTTCCCGCAC	0.488000													55	196					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957684	121957684	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:121957684T>G	ENST00000379692.4	-	4	1968	c.1442A>C	c.(1441-1443)tAc>tCc	p.Y481S		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	481	Fibronectin type-III 2.									breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TTCTTTTTTGTAGATGCAAAA	0.438000													58	41					0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155578045	155578045	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr6:155578045C>G	ENST00000461783.3	+	29	6169	c.4896C>G	c.(4894-4896)ttC>ttG	p.F1632L	TIAM2_ENST00000367174.2_Missense_Mutation_p.F1008L|TIAM2_ENST00000318981.5_Missense_Mutation_p.F1632L|TIAM2_ENST00000275246.7_Missense_Mutation_p.F557L|TIAM2_ENST00000360366.4_Missense_Mutation_p.F1656L|TIAM2_ENST00000456144.1_Missense_Mutation_p.F1661L|TIAM2_ENST00000528391.2_Missense_Mutation_p.F976L|TIAM2_ENST00000456877.2_Missense_Mutation_p.F944L|TIAM2_ENST00000529824.2_Missense_Mutation_p.F1661L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1632					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGGGCACTTCTGCCCCATTA	0.587000													14	21					0	0	1	0	0
TUBB8P7	197331	broad.mit.edu	37	16	90162579	90162579	+	RNA	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr16:90162579C>T	ENST00000564451.1	+	0	1932				TUBB8P7_ENST00000567960.1_RNA																							AGGAGTATGCCGAGGAGGAGG	0.512000													4	99					0	0	1	0	0
DHX35	60625	broad.mit.edu	37	20	37650573	37650573	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr20:37650573C>A	ENST00000252011.3	+	16	1621	c.1588C>A	c.(1588-1590)Cac>Aac	p.H530N	DHX35_ENST00000373323.4_Missense_Mutation_p.H499N|DHX35_ENST00000373325.2_Missense_Mutation_p.H530N	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	530						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CCAGAAGTCTCACGCAGTAAG	0.473000													75	100					2.23399e-28	2.41271e-28	1	1	0
BDP1	55814	broad.mit.edu	37	5	70798507	70798507	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:70798507G>C	ENST00000358731.4	+	15	2393	c.2130G>C	c.(2128-2130)aaG>aaC	p.K710N	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	710					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GATTGCAAAAGCCAAAGCCAA	0.403000													42	29					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54968055	54968055	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:54968055C>G	ENST00000326902.2	+	2	1195	c.881C>G	c.(880-882)tCa>tGa	p.S294*	GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	294						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			TCGCCGGCCTCAGCCAACGAT	0.667000													10	33					0	0	1	0	0
UBXN6	80700	broad.mit.edu	37	19	4453475	4453475	+	Missense_Mutation	SNP	C	C	T	rs146778894		TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:4453475C>T	ENST00000301281.6	-	3	416	c.292G>A	c.(292-294)Gag>Aag	p.E98K	UBXN6_ENST00000394765.3_Missense_Mutation_p.E45K	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	98						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTGGGGCCTCGGGGCTCCCG	0.622000													12	10					0	0	1	0	0
SLC5A5	6528	broad.mit.edu	37	19	17992962	17992962	+	Silent	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:17992962C>G	ENST00000222248.3	+	10	1523	c.1176C>G	c.(1174-1176)ctC>ctG	p.L392L		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	392					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTACAGCACTCATCTACGGAT	0.627000													16	43					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113568893	113568893	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:113568893G>A	ENST00000509061.1	+	10	1369	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	LARP7_ENST00000344442.5_Missense_Mutation_p.D349N|MIR302B_ENST00000510655.1_RNA|MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.D349N|MIR302B_ENST00000509938.1_RNA	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	349	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AGATCTAAAAGATAGCTCTCT	0.333000													11	18					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763690	110763690	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:110763690G>C	ENST00000451085.1	+	4	1908	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.E288Q|LRRN3_ENST00000308478.5_Missense_Mutation_p.E288Q|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000415362.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	288						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACACTTAAAAGAGTTGGGGAT	0.333000													11	121					0	0	1	0	0
OR14C36	127066	broad.mit.edu	37	1	248512571	248512571	+	Silent	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:248512571C>T	ENST00000317861.1	+	1	495	c.495C>T	c.(493-495)ccC>ccT	p.P165P		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						TCCAGCTGCCCTTCTGTCGGT	0.502000													30	57					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262047	39262047	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:39262047A>G	ENST00000391415.1	+	1	464	c.407A>G	c.(406-408)aAg>aGg	p.K136R		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	136	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						agctgctgcaagccccagtgc	0.652000													4	60					0	0	1	0	0
FBP2	8789	broad.mit.edu	37	9	97355853	97355853	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:97355853G>A	ENST00000375337.3	-	1	222	c.156C>T	c.(154-156)gcC>gcT	p.A52A		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	52					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GGGCCAGACCGGCCTTGCGCA	0.637000													41	2					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554728	85554728	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:85554728G>A	ENST00000377386.3	-	2	589	c.127C>T	c.(127-129)Cac>Tac	p.H43Y	TGOLN2_ENST00000409232.3_Missense_Mutation_p.H43Y|TGOLN2_ENST00000409015.1_Missense_Mutation_p.H43Y|TGOLN2_ENST00000444342.2_Missense_Mutation_p.H43Y|TGOLN2_ENST00000282120.2_Missense_Mutation_p.H43Y|TGOLN2_ENST00000398263.2_Missense_Mutation_p.H43Y			O43493	TGON2_HUMAN	trans-golgi network protein 2	43						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										AAGCTGGGGTGGGTGGAGACG	0.587000													39	101					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32725559	32725559	+	Missense_Mutation	SNP	C	C	T	rs113761247	byFrequency	TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr6:32725559C>T	ENST00000435145.2	-	4	809	c.748G>A	c.(748-750)Ggt>Agt	p.G250S	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.G250S			Q5SR06	Q5SR06_HUMAN	major histocompatibility complex, class II, DQ beta 2	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CCTTTCTGACCCCTGTGACGG	0.552000													3	13					0	0	1	0	0
FAM47B	170062	broad.mit.edu	37	X	34961690	34961690	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chrX:34961690C>T	ENST00000329357.5	+	1	778	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	248	Pro-rich.							p.R248C(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATCTCATCTCCGCGTGGATCC	0.632000													88	2					0	0	1	0	0
PTCHD3P1	387647	broad.mit.edu	37	10	29710597	29710597	+	RNA	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr10:29710597G>A	ENST00000427063.2	+	0	1321				PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA	NR_003930.1																						GTCCTCTGAAGAAGCTGGTCA	0.562000													4	14					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54967816	54967816	+	Silent	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:54967816C>G	ENST00000326902.2	+	2	956	c.642C>G	c.(640-642)ctC>ctG	p.L214L	GSX2_ENST00000548609.1_3'UTR|FIP1L1_ENST00000507166.1_Intron|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	214						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GCACGCAACTCCTGGAGCTGG	0.552000													33	102					0	0	1	0	0
ZP3	7784	broad.mit.edu	37	7	76062891	76062891	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:76062891G>A	ENST00000416245.1	+	3	1205	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ZP3_ENST00000336517.4_Missense_Mutation_p.V163M|ZP3_ENST00000394857.3_Missense_Mutation_p.V214M			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	214					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						GCGGTTGTTTGTGGACCACTG	0.607000													68	141					0	0	1	0	0
HCN4	10021	broad.mit.edu	37	15	73617727	73617727	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr15:73617727C>T	ENST00000261917.3	-	5	2642	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	550					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTCGTGGATGCGCTGCCGGGT	0.642000													4	196					0	0	1	0	0
FGFR2	2263	broad.mit.edu	37	10	123274768	123274768	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr10:123274768C>G	ENST00000358487.5	-	9	1422	c.1150G>C	c.(1150-1152)Ggg>Cgg	p.G384R	FGFR2_ENST00000369059.1_Missense_Mutation_p.G270R|FGFR2_ENST00000369056.1_Missense_Mutation_p.G385R|FGFR2_ENST00000478859.1_Missense_Mutation_p.G156R|FGFR2_ENST00000351936.6_Missense_Mutation_p.G384R|FGFR2_ENST00000369061.4_Missense_Mutation_p.G272R|FGFR2_ENST00000346997.2_Missense_Mutation_p.G384R|FGFR2_ENST00000457416.2_Missense_Mutation_p.G385R|FGFR2_ENST00000369060.4_Intron|FGFR2_ENST00000360144.3_Missense_Mutation_p.G296R|FGFR2_ENST00000357555.5_Missense_Mutation_p.G295R|FGFR2_ENST00000356226.4_Missense_Mutation_p.G269R	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	384			G -> R (in CS).		angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AAGAAGACCCCTATGCAGTAA	0.502000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome				7	108					0	0	1	0	0
FUT7	2529	broad.mit.edu	37	9	139925890	139925890	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:139925890G>A	ENST00000314412.6	-	2	1319	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	101					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		TGGGACCGCCGGGTCTGCAGC	0.731000													5	1					0	0	1	0	0
ABCC12	94160	broad.mit.edu	37	16	48175149	48175149	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr16:48175149T>G	ENST00000311303.3	-	3	736	c.391A>C	c.(391-393)Atc>Ctc	p.I131L	ABCC12_ENST00000448542.1_Missense_Mutation_p.I131L|ABCC12_ENST00000416054.1_Missense_Mutation_p.I131L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	131	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGCACAGGATGTTGGCCACG	0.557000													17	26					0	0	1	0	0
CREBBP	1387	broad.mit.edu	37	16	3781305	3781305	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr16:3781305G>A	ENST00000262367.5	-	30	5869	c.5060C>T	c.(5059-5061)tCc>tTc	p.S1687F	CREBBP_ENST00000382070.3_Missense_Mutation_p.S1649F	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1687	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGAGCGTGGACCACTTGGA	0.642000			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						8	14					0	0	1	0	0
MICALL2	79778	broad.mit.edu	37	7	1478593	1478593	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:1478593C>T	ENST00000297508.7	-	10	2180	c.2005G>A	c.(2005-2007)Gtc>Atc	p.V669I	MICALL2_ENST00000471899.1_5'UTR|MICALL2_ENST00000405088.4_Missense_Mutation_p.V457I	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	669						cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CTGGCAGGGACGGCCAGTCTC	0.682000													15	38					0	0	1	0	0
LOC101927958	101927958	broad.mit.edu	37	2	239141463	239141463	+	RNA	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:239141463G>C	ENST00000456601.1	+	0	906																											CCAGGCCTTCGGTTCTGGAAA	0.522000													20	15					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1499950	1499950	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:1499950G>A	ENST00000345913.4	+	12	2287	c.2196G>A	c.(2194-2196)tgG>tgA	p.W732*	TPO_ENST00000346956.3_Nonsense_Mutation_p.W732*|TPO_ENST00000382198.1_Nonsense_Mutation_p.W559*|TPO_ENST00000349624.3_Nonsense_Mutation_p.W559*|TPO_ENST00000329066.4_Nonsense_Mutation_p.W732*|TPO_ENST00000382201.3_Nonsense_Mutation_p.W675*|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Nonsense_Mutation_p.W732*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	732				W -> C (in Ref. 7; AAN11302).	cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGGAGGCCTGGAGGGAAACCT	0.527000													6	28					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17466740	17466740	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:17466740G>A	ENST00000380647.3	+	23	3790	c.3706G>A	c.(3706-3708)Gag>Aag	p.E1236K	CNTLN_ENST00000262360.5_Missense_Mutation_p.E1236K|CNTLN_ENST00000425824.1_Missense_Mutation_p.E1236K			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1236						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGAATAAGTGAGACTGAATC	0.368000													38	2					0	0	1	0	0
METTL6	131965	broad.mit.edu	37	3	15467891	15467891	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr3:15467891T>C	ENST00000443029.1	-	2	368	c.128A>G	c.(127-129)aAa>aGa	p.K43R	METTL6_ENST00000450816.2_Missense_Mutation_p.K43R|METTL6_ENST00000383789.5_Missense_Mutation_p.K43R|METTL6_ENST00000383790.3_Missense_Mutation_p.K43R			Q8TCB7	METL6_HUMAN	methyltransferase like 6	43							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						ATCCCAATTTTTCTGAGCCTC	0.393000													22	124					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21445142	21445142	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr12:21445142G>A	ENST00000307378.6	-	13	2286	c.1566C>T	c.(1564-1566)ttC>ttT	p.F522F	SLCO1A2_ENST00000390670.3_Silent_p.F520F|SLCO1A2_ENST00000458504.1_Silent_p.F390F|SLCO1A2_ENST00000452078.1_Silent_p.F522F|SLCO1A2_ENST00000537524.1_Silent_p.F390F	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	522					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AAGAATAAATGAAACTGCTCA	0.383000													33	12					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107930	168107930	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:168107930G>A	ENST00000409195.1	+	9	10117	c.10028G>A	c.(10027-10029)gGc>gAc	p.G3343D	XIRP2_ENST00000295237.9_Missense_Mutation_p.G3343D|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G3121D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3168					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTGAGCATGGCCCAGTTTCT	0.383000													5	100					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	73957450	73957450	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:73957450T>G	ENST00000358602.4	-	29	6011	c.5895A>C	c.(5893-5895)ttA>ttC	p.L1965F	ANKRD17_ENST00000330838.6_Missense_Mutation_p.L1714F|ANKRD17_ENST00000509867.2_Missense_Mutation_p.L1852F	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1965	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGCTTGAAGTTAAAGAACCTG	0.493000													71	285					0	0	1	0	0
FGF14	2259	broad.mit.edu	37	13	102375303	102375303	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr13:102375303C>T	ENST00000376131.4	-	5	732	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Missense_Mutation_p.E208K	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	208					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAAGATGGTTCTCGGTACATG	0.488000													6	229					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141745510	141745510	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:141745510G>C	ENST00000522684.1	-	22	2099	c.1870C>G	c.(1870-1872)Caa>Gaa	p.Q624E	PTK2_ENST00000535192.1_Missense_Mutation_p.Q624E|PTK2_ENST00000395218.2_Missense_Mutation_p.Q624E|PTK2_ENST00000519465.1_Missense_Mutation_p.Q252E|PTK2_ENST00000521059.1_Missense_Mutation_p.Q624E|PTK2_ENST00000538769.1_Missense_Mutation_p.Q292E|PTK2_ENST00000517887.1_Missense_Mutation_p.Q668E|PTK2_ENST00000519419.1_Missense_Mutation_p.Q668E|PTK2_ENST00000340930.3_Missense_Mutation_p.Q624E	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	624	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TTCACTCCTTGAAAAGGCTTC	0.433000													13	155					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44913946	44913946	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr12:44913946C>G	ENST00000429094.2	-	19	2746	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q	NELL2_ENST00000452445.2_Missense_Mutation_p.E748Q|NELL2_ENST00000333837.4_Missense_Mutation_p.E771Q|NELL2_ENST00000551601.1_Missense_Mutation_p.E700Q|NELL2_ENST00000437801.2_Missense_Mutation_p.E798Q|NELL2_ENST00000395487.2_Missense_Mutation_p.E747Q|NELL2_ENST00000549027.1_Missense_Mutation_p.E747Q	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	748	VWFC 4.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CACTCATTCTCTGGGAGAATG	0.542000													21	37					0	0	1	0	0
HIST2H2BF	440689	broad.mit.edu	37	1	149783875	149783875	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:149783875G>A	ENST00000427880.2	-	1	50	c.4C>T	c.(4-6)Ccg>Tcg	p.P2S	HIST2H2BF_ENST00000469483.1_5'UTR|HIST2H2BF_ENST00000545683.1_Missense_Mutation_p.P2S|HIST2H2BF_ENST00000369167.1_Missense_Mutation_p.P2S			Q5QNW6	H2B2F_HUMAN	histone cluster 2, H2bf	2					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)					GCTGGATCCGGCATTTTTGCG	0.498000													4	137					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45219284	45219284	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:45219284A>G	ENST00000066544.3	-	12	1579	c.1486T>C	c.(1486-1488)Tac>Cac	p.Y496H	CDC27_ENST00000531206.1_Missense_Mutation_p.Y502H|CDC27_ENST00000446365.2_Missense_Mutation_p.Y435H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y495H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	496			Y -> H (in dbSNP:rs13666).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCAGTATTGTAGTGGTGAGAA	0.378000													6	227					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40491346	40491346	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:40491346G>A	ENST00000264657.5	-	5	766	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	STAT3_ENST00000588969.1_Missense_Mutation_p.R152W|STAT3_ENST00000404395.3_Missense_Mutation_p.R152W|STAT3_ENST00000389272.3_Missense_Mutation_p.R54W|STAT3_ENST00000585517.1_Missense_Mutation_p.R152W	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	152					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		ACTCTCTTCCGGACATCCTGA	0.532000									Hyperimmunoglobulin E Recurrent Infection Syndrome				67	79					0	0	1	0	0
LRP3	4037	broad.mit.edu	37	19	33698341	33698341	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:33698341G>A	ENST00000253193.7	+	7	2375	c.2173G>A	c.(2173-2175)Gac>Aac	p.D725N	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	725					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CTCAGCCCAGGACCCGCACCC	0.692000													4	11					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353391	105353391	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr14:105353391G>A	ENST00000453495.1	+	12	3046	c.2818G>A	c.(2818-2820)Ggg>Agg	p.G940R	CEP170B_ENST00000418279.1_Missense_Mutation_p.G869R|CEP170B_ENST00000414716.3_Missense_Mutation_p.G939R|CEP170B_ENST00000556508.1_Missense_Mutation_p.G869R					centrosomal protein 170B																		CGAGTGTGAGGGGGGCAGCAC	0.682000													105	4					0	0	1	0	0
CNST	163882	broad.mit.edu	37	1	246795198	246795198	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:246795198A>G	ENST00000366513.4	+	4	857	c.588A>G	c.(586-588)atA>atG	p.I196M	CNST_ENST00000366512.3_Missense_Mutation_p.I196M|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	196					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTAACAGATAGCAGAATCCT	0.274000													57	26					0	0	1	0	0
KPRP	448834	broad.mit.edu	37	1	152733220	152733220	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:152733220C>T	ENST00000368773.1	+	2	1214	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	KPRP_ENST00000606109.1_Missense_Mutation_p.R386W	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	386	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCACCACGGCGTCTTGA	0.642000													5	84					0	0	1	0	0
VIL1	7429	broad.mit.edu	37	2	219292738	219292738	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:219292738C>T	ENST00000248444.5	+	5	486	c.398C>T	c.(397-399)tCc>tTc	p.S133F	VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Missense_Mutation_p.S133F	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	133	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGACCAACTCCTATGACGTC	0.617000													6	149					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47690462	47690462	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr21:47690462G>A	ENST00000397708.1	-	10	2735	c.2481C>T	c.(2479-2481)ttC>ttT	p.F827F	MCM3AP_ENST00000291688.1_Silent_p.F827F			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	827					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAGCAGGATGGAACTGTTGTA	0.328000													28	73					0	0	1	0	0
SMTNL1	219537	broad.mit.edu	37	11	57314091	57314091	+	Silent	SNP	C	C	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr11:57314091C>A	ENST00000457912.1	+	7	1360	c.1360C>A	c.(1360-1362)Cgg>Agg	p.R454R	SMTNL1_ENST00000527972.1_Silent_p.R436R|SMTNL1_ENST00000399154.2_Silent_p.R399R			E9PPJ3	E9PPJ3_HUMAN	smoothelin-like 1	436										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CGCAAAGCGCCGGCACAACTT	0.597000													23	29					1.9806e-07	2.01254e-07	1	1	0
TRIM51	84767	broad.mit.edu	37	11	55655616	55655616	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr11:55655616G>A	ENST00000449290.2	+	4	708	c.616G>A	c.(616-618)Gag>Aag	p.E206K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E63K	NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	206						intracellular	zinc ion binding										AAAGGAGGGCGAGGACATTTT	0.428000													7	92					0	0	1	0	0
HIST1H3D	8351	broad.mit.edu	37	6	26197305	26197305	+	Silent	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr6:26197305C>G	ENST00000377831.5	-	2	627	c.174G>C	c.(172-174)tcG>tcC	p.S58S	HIST1H3D_ENST00000356476.2_Silent_p.S58S	NM_003530.3	NP_003521.2	P68431	H31_HUMAN	histone cluster 1, H3d	58					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)	14		all_hematologic(11;0.196)				GCAGCTCGGTCGACTTCTGGT	0.627000													8	80					0	0	1	0	0
SLC30A4	7782	broad.mit.edu	37	15	45814527	45814527	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr15:45814527C>G	ENST00000261867.4	-	2	340	c.26G>C	c.(25-27)cGc>cCc	p.R9P	HMGN2P46_ENST00000409454.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	9					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATTTGAGGCGCTTCCACGC	0.652000													15	37					0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3100157	3100157	+	Splice_Site	SNP	T	T	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr18:3100157T>G	ENST00000356443.4	-	25	4060	c.3727A>C	c.(3727-3729)Act>Cct	p.T1243P	MYOM1_ENST00000261606.7_Splice_Site_p.T1147P|MYOM1_ENST00000400569.3_Splice_Site_p.T1243P	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	1243						striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GGATACTTACTTGGGAACTTG	0.388000													19	29					0	0	1	0	0
APBA2	321	broad.mit.edu	37	15	29346936	29346936	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr15:29346936G>A	ENST00000558402.1	+	5	1448	c.849G>A	c.(847-849)tcG>tcA	p.S283S	APBA2_ENST00000558330.1_Silent_p.S283S|APBA2_ENST00000411764.1_Silent_p.S283S|APBA2_ENST00000561069.1_Silent_p.S283S|APBA2_ENST00000558259.1_Silent_p.S283S			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	283					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGCCCAAGTCGCTGAACCTCC	0.672000													7	34					0	0	1	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950433	123950433	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr12:123950433G>T	ENST00000526639.2	+	2	925	c.346G>T	c.(346-348)Gtt>Ttt	p.V116F	SNRNP35_ENST00000350887.5_Missense_Mutation_p.V116F|SNRNP35_ENST00000412157.2_Missense_Mutation_p.V121F|SNRNP35_ENST00000527158.2_Intron	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	116	RRM.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGATGGCCTGGTTATTGACCA	0.522000													43	111					1.91236e-09	1.98591e-09	1	1	0
SHROOM2	357	broad.mit.edu	37	X	9905313	9905313	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chrX:9905313G>A	ENST00000380913.3	+	7	3817	c.3727G>A	c.(3727-3729)Gag>Aag	p.E1243K	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E78K	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1243					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCACGGGCTGGAGAAAGACCA	0.647000													19	2					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29623207	29623207	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr20:29623207A>C	ENST00000278882.3	+	3	399	c.19A>C	c.(19-21)Atg>Ctg	p.M7L	FRG1B_ENST00000358464.4_Missense_Mutation_p.M7L|FRG1B_ENST00000439954.2_Missense_Mutation_p.H8P																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCTATATACATGCACTCGAC	0.388000													13	785					0	0	1	0	0
HSD17B2	3294	broad.mit.edu	37	16	82131831	82131831	+	Silent	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr16:82131831C>T	ENST00000199936.4	+	5	1147	c.954C>T	c.(952-954)ttC>ttT	p.F318F	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	318					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	GCAAGGACTTCTCTCCGGTGC	0.542000													36	35					0	0	1	0	0
TLR8	51311	broad.mit.edu	37	X	12937240	12937240	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chrX:12937240A>C	ENST00000218032.6	+	2	168	c.81A>C	c.(79-81)gaA>gaC	p.E27D	TLR8_ENST00000311912.5_Missense_Mutation_p.E45D	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	27					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATGCGCCGAAGAAAATTTTT	0.418000													10	90					0	0	1	0	0
NODAL	4838	broad.mit.edu	37	10	72192792	72192792	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr10:72192792G>C	ENST00000287139.3	-	3	943	c.944C>G	c.(943-945)cCa>cGa	p.P315R		NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	315					growth	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGTCTTCACTGGGGCACAACA	0.512000													12	156					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	143249	143249	+	Missense_Mutation	SNP	G	G	A	rs115149634	byFrequency	TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:143249G>A	ENST00000283426.6	+	2	547	c.497G>A	c.(496-498)cGg>cAg	p.R166Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	166					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTGCCTGCCCGGCAGCCACAC	0.647000													4	177					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103929	168103929	+	Silent	SNP	A	A	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:168103929A>G	ENST00000409195.1	+	9	6116	c.6027A>G	c.(6025-6027)ttA>ttG	p.L2009L	XIRP2_ENST00000295237.9_Silent_p.L2009L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.L1787L|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1834					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGGCAATTTAGTAGAAGAAA	0.458000													3	39					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140180995	140180995	+	Missense_Mutation	SNP	C	C	A	rs138112183		TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:140180995C>A	ENST00000522353.2	+	1	213	c.213C>A	c.(211-213)caC>caA	p.H71Q	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.H71Q	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAAAAGACACGGGGACCTTC	0.627000													179	109					2.5812e-89	2.83632e-89	1	1	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			39	3					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25841970	25841970	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr13:25841970C>G	ENST00000381801.5	-	3	1012	c.251G>C	c.(250-252)aGa>aCa	p.R84T	MTMR6_ENST00000540661.1_Missense_Mutation_p.R84T	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	84						cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		ATCTCTTTCTCTGGGAACAAT	0.403000													4	105					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60902023	60902023	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr20:60902023C>T	ENST00000252999.3	-	39	5179		c.e39-1			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGATGACACCTGGAGGCAGG	0.632000													27	102					0	0	1	0	0
PSMC2	5701	broad.mit.edu	37	7	103004746	103004746	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:103004746G>A	ENST00000435765.1	+	9	1159	c.748G>A	c.(748-750)Gtc>Atc	p.V250I	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000544811.1_Missense_Mutation_p.V113I|PSMC2_ENST00000292644.3_Missense_Mutation_p.V250I|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	250					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						ACAGAAATACGTCGGTGAGGT	0.418000													39	115					0	0	1	0	0
SNAP47	116841	broad.mit.edu	37	1	227947044	227947044	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:227947044G>A	ENST00000366759.4	+	3	1395	c.981G>A	c.(979-981)ttG>ttA	p.L327L	SNAP47_ENST00000315781.5_Silent_p.L327L|SNAP47_ENST00000366760.1_Silent_p.L85L	NM_053052.3	NP_444280.2	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	327						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CCTATCGTTTGATATCTGCCA	0.468000													45	112					0	0	1	0	0
CTC1	80169	broad.mit.edu	37	17	8137937	8137937	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:8137937G>A	ENST00000315684.8	-	10	1661	c.1654C>T	c.(1654-1656)Ctg>Ttg	p.L552L		NM_025099.5	NP_079375.3	Q2NKJ3	CTC1_HUMAN	CTS telomere maintenance complex component 1	552					positive regulation of DNA replication|telomere maintenance	Stn1-Ten1 complex	protein binding|single-stranded DNA binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|skin(4)	29						AGGGTGGCCAGAGTGGGGAAG	0.617000													5	27					0	0	1	0	0
PYHIN1	149628	broad.mit.edu	37	1	158943534	158943534	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:158943534A>G	ENST00000368140.1	+	8	1702	c.1457A>G	c.(1456-1458)aAc>aGc	p.N486S	PYHIN1_ENST00000368138.3_Missense_Mutation_p.N477S|PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000392252.3_Intron	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	486					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACTTCCACCAACCGCCATCCA	0.458000													36	91					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057652	53057652	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:53057652A>T	ENST00000359798.4	+	5	1663	c.1483A>T	c.(1483-1485)Agg>Tgg	p.R495W		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CTTCAGCCGCAGGTCATCCCT	0.453000													74	47					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413349	178413349	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:178413349C>T	ENST00000231188.5	-	8	2084	c.1906G>A	c.(1906-1908)Gcc>Acc	p.A636T	GRM6_ENST00000517717.1_Missense_Mutation_p.A636T|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	636					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGGTGATGGCGTAGATGAGG	0.667000													18	12					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096483	51096483	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:51096483G>C	ENST00000395542.2	-	12	2740	c.2556C>G	c.(2554-2556)ttC>ttG	p.F852L	COBL_ENST00000265136.7_Missense_Mutation_p.F770L			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	770										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TGCACCTCCAGAACTCTCTGA	0.587000													18	65					0	0	1	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43828154	43828154	+	Silent	SNP	T	T	C	rs140150445	by1000genomes	TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:43828154T>C	ENST00000377564.3	+	9	1803	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	470	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGTGGTGGATGATGACACAG	0.488000													2	0					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228509627	228509627	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:228509627G>A	ENST00000570156.2	+	66	18030	c.17956G>A	c.(17956-17958)Gag>Aag	p.E5986K	OBSCN_ENST00000366707.4_Missense_Mutation_p.E2663K|OBSCN_ENST00000366709.4_Missense_Mutation_p.E2148K|OBSCN_ENST00000284548.11_Missense_Mutation_p.E5029K|OBSCN_ENST00000422127.1_Missense_Mutation_p.E5029K	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5029	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGTTTCAGATGAGGAGCTCTT	0.622000													15	40					0	0	1	0	0
NAGLU	4669	broad.mit.edu	37	17	40695147	40695147	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:40695147C>T	ENST00000225927.2	+	6	1224	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	375						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	AGCTGTGCCCCGTGGCCGCCT	0.647000													94	132					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17466835	17466835	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:17466835G>A	ENST00000380647.3	+	23	3885	c.3801G>A	c.(3799-3801)caG>caA	p.Q1267Q	CNTLN_ENST00000262360.5_Silent_p.Q1267Q|CNTLN_ENST00000425824.1_Silent_p.Q1267Q			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	1267						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		AAGGTGCACAGAAGACATTGC	0.388000													88	1					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110100327	110100327	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:110100327T>G	ENST00000518632.1	+	2	937	c.586T>G	c.(586-588)Ttt>Gtt	p.F196V	TRHR_ENST00000311762.2_Missense_Mutation_p.F196V			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	196						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.F196V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCTAATGGACTTTGGTGTCTT	0.398000													7	129					0	0	1	0	0
RXRB	6257	broad.mit.edu	37	6	33165668	33165668	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr6:33165668G>A	ENST00000374680.3	-	4	902	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	RXRB_ENST00000413614.2_Missense_Mutation_p.R135C|RXRB_ENST00000544186.1_Missense_Mutation_p.R41C|RXRB_ENST00000374685.4_Missense_Mutation_p.R231C	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	231					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGGATGGTGCGTTTGAAGAAG	0.527000													23	3					0	0	1	0	0
WDR83	84292	broad.mit.edu	37	19	12783894	12783894	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:12783894G>A	ENST00000418543.3	+	9	996	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	WDR83_ENST00000242796.4_Missense_Mutation_p.R216Q	NM_001099737.2	NP_001093207.1	Q9BRX9	WDR83_HUMAN	WD repeat domain 83	216					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TCCACATTGCGGCTCCTGGAC	0.647000													11	47					0	0	1	0	0
TCHH	7062	broad.mit.edu	37	1	152082781	152082781	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:152082781T>C	ENST00000368804.1	-	2	2911	c.2912A>G	c.(2911-2913)gAg>gGg	p.E971G		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	971	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			cagcagctgctcttccttctg	0.567000													113	303					0	0	1	0	0
ANKRD13D	338692	broad.mit.edu	37	11	67059632	67059632	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr11:67059632C>T	ENST00000447274.2	+	6	1626	c.451C>T	c.(451-453)Cgt>Tgt	p.R151C	ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R238C|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R151C|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R151C			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	151										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CCTGGACACTCGTAATGTGGC	0.627000													55	58					0	0	1	0	0
MAL	4118	broad.mit.edu	37	2	95715400	95715400	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr2:95715400G>A	ENST00000309988.4	+	3	445	c.336G>A	c.(334-336)acG>acA	p.T112T	MAL_ENST00000349807.3_Intron|MAL_ENST00000353004.3_Intron|MAL_ENST00000354078.3_Silent_p.T56T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	112	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		CCACCATCACGATGCAAGACG	0.637000													4	166					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7722541	7722541	+	Silent	SNP	C	C	T	rs143386308		TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:7722541C>T	ENST00000572933.1	+	72	12290	c.10830C>T	c.(10828-10830)tgC>tgT	p.C3610C	DNAH2_ENST00000389173.2_Silent_p.C3610C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3610					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACCGCCCATGCGCCCAGCGGG	0.607000													59	1					0	0	1	0	0
CELSR1	9620	broad.mit.edu	37	22	46930684	46930684	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr22:46930684G>A	ENST00000262738.3	-	1	2383	c.2384C>T	c.(2383-2385)aCa>aTa	p.T795I	CELSR1_ENST00000395964.1_Missense_Mutation_p.T795I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	795	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GACACTCACTGTGTAATGGGA	0.562000													3	32					0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49459621	49459621	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr10:49459621C>G	ENST00000374201.3	-	2	441	c.139G>C	c.(139-141)Gac>Cac	p.D47H	FRMPD2_ENST00000305531.3_Missense_Mutation_p.D45H|FRMPD2_ENST00000407470.4_Missense_Mutation_p.D38H	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	47	KIND.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		TTGCGGAGGTCTTCCAGGAGC	0.562000													24	48					0	0	1	0	0
KCNH6	81033	broad.mit.edu	37	17	61601691	61601691	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:61601691G>C	ENST00000583023.1	+	2	279	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	KCNH6_ENST00000456941.2_Missense_Mutation_p.E90Q|KCNH6_ENST00000580652.1_Missense_Mutation_p.E90Q|KCNH6_ENST00000581784.1_Missense_Mutation_p.E90Q|KCNH6_ENST00000314672.5_Missense_Mutation_p.E90Q	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	90					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	GCTGGGGGCTGAGGAGTGCAA	0.632000													12	87					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134071656	134071656	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:134071656T>A	ENST00000264360.5	+	1	1187	c.361T>A	c.(361-363)Tct>Act	p.S121T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CAACCCCCCCTCTTTCCCGGA	0.612000													38	71					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64855423	64855423	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr11:64855423G>A	ENST00000294258.3	+	8	922	c.770G>A	c.(769-771)cGg>cAg	p.R257Q		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	257					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TCTCGGAAGCGGCCGCTGACC	0.706000													24	105					0	0	1	0	0
ZDHHC18	84243	broad.mit.edu	37	1	27177621	27177621	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:27177621G>A	ENST00000374142.4	+	6	930	c.835G>A	c.(835-837)Gtg>Atg	p.V279M	ZDHHC18_ENST00000478902.1_3'UTR	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18							integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TGCCCTCACCGTGCTGGAGTT	0.562000													16	106					0	0	1	0	0
GALNT11	63917	broad.mit.edu	37	7	151802370	151802370	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:151802370C>A	ENST00000434507.1	+	7	1064	c.627C>A	c.(625-627)taC>taA	p.Y209*	GALNT11_ENST00000452146.2_Nonsense_Mutation_p.Y128*|GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Nonsense_Mutation_p.Y209*|GALNT11_ENST00000320311.2_Nonsense_Mutation_p.Y209*			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	209	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		TCCAAAAATACCTCCCTGGAA	0.383000													45	54					5.20837e-25	5.59308e-25	1	1	0
EXT1	2131	broad.mit.edu	37	8	119122833	119122833	+	Silent	SNP	C	C	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:119122833C>A	ENST00000378204.2	-	1	1259	c.453G>T	c.(451-453)gcG>gcT	p.A151A		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	151					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	p.A151A(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			CAAAGAGGCACGCCTGGCTGG	0.502000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				101	226					6.00224e-42	6.55736e-42	1	1	0
ZBTB8A	653121	broad.mit.edu	37	1	33059276	33059276	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:33059276G>C	ENST00000373510.4	+	3	973	c.744G>C	c.(742-744)caG>caC	p.Q248H	RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.Q248H	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						AACAAGCACAGATTGATGCTG	0.428000													21	93					0	0	1	0	0
ENAM	10117	broad.mit.edu	37	4	71508536	71508536	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr4:71508536G>T	ENST00000396073.3	+	9	1674	c.1393G>T	c.(1393-1395)Gaa>Taa	p.E465*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	465					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCAACAGTATGAAGTTAATAA	0.373000													37	47					3.21399e-22	3.43189e-22	1	1	0
SALL3	27164	broad.mit.edu	37	18	76755318	76755318	+	Silent	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr18:76755318G>A	ENST00000536229.3	+	2	3421	c.2712G>A	c.(2710-2712)acG>acA	p.T904T	SALL3_ENST00000537592.2_Silent_p.T1109T|SALL3_ENST00000575389.2_Silent_p.T1037T			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CGCGCCGGACGCCCAAGCAGC	0.736000													6	16					0	0	1	0	0
FETUB	26998	broad.mit.edu	37	3	186370288	186370288	+	Silent	SNP	G	G	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr3:186370288G>T	ENST00000265029.3	+	7	1118	c.1017G>T	c.(1015-1017)ctG>ctT	p.L339L	FETUB_ENST00000450521.1_Silent_p.L339L|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.L274L|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000382136.3_Silent_p.L302L|FETUB_ENST00000539949.1_Silent_p.L191L	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	339						extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		GAGAAACCCTGGATATTTCCT	0.542000													16	200					6.94344e-10	7.25034e-10	1	1	0
GLI3	2737	broad.mit.edu	37	7	42005321	42005321	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr7:42005321G>A	ENST00000395925.3	-	15	3434	c.3350C>T	c.(3349-3351)cCg>cTg	p.P1117L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1117					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1117Q(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCTGTCGTCCGGGAGGGCGCT	0.637000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				47	153					0	0	1	0	0
MAMLD1	10046	broad.mit.edu	37	X	149639179	149639179	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chrX:149639179C>T	ENST00000370401.2	+	4	1644	c.1334C>T	c.(1333-1335)tCt>tTt	p.S445F	MAMLD1_ENST00000262858.5_Missense_Mutation_p.S445F|MAMLD1_ENST00000432680.2_Missense_Mutation_p.S420F|MAMLD1_ENST00000426613.2_Missense_Mutation_p.S420F			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	445					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CACCTGATGTCTGCTCTGCCT	0.597000													67	123					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134351583	134351583	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:134351583G>A	ENST00000357304.4	+	15	4122	c.4067G>A	c.(4066-4068)cGc>cAc	p.R1356H	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1356							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						ACTGTGGGCCGCAGGTCCCCT	0.667000											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	35					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22910211	22910211	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr21:22910211C>A	ENST00000400546.1	+	18	2696	c.2447C>A	c.(2446-2448)cCa>cAa	p.P816Q	NCAM2_ENST00000284894.7_Missense_Mutation_p.P674Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	816					neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		GCTCTAAATCCAGAAACTATA	0.338000													14	67					6.72482e-11	7.06106e-11	1	1	0
RTN4RL1	146760	broad.mit.edu	37	17	1840005	1840005	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:1840005C>T	ENST00000331238.6	-	2	1590	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GCCTGTTTCCCGGCGCCCGCC	0.647000													15	20					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76539979	76539979	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:76539979G>A	ENST00000389840.5	-	17	2616	c.2492C>T	c.(2491-2493)gCa>gTa	p.A831V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A831V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCCTGACTGCTGCGTAGCG	0.502000													176	230					0	0	1	0	0
PINX1	54984	broad.mit.edu	37	8	10623284	10623284	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr8:10623284G>A	ENST00000314787.3	-	7	733	c.614C>T	c.(613-615)aCg>aTg	p.T205M	PINX1_ENST00000426190.2_3'UTR|SOX7_ENST00000553390.1_Intron|PINX1_ENST00000519088.1_3'UTR|CTD-2135J3.3_ENST00000519568.1_RNA|SOX7_ENST00000554914.1_Intron	NM_017884.4	NP_060354.4			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		TTCCACCTGCGTCTCAGAAAT	0.522000													245	202					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34059662	34059662	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr6:34059662T>A	ENST00000538487.2	-	3	1177	c.734A>T	c.(733-735)gAc>gTc	p.D245V	GRM4_ENST00000535756.1_Missense_Mutation_p.D112V|GRM4_ENST00000544773.2_Missense_Mutation_p.D76V|GRM4_ENST00000609222.1_Missense_Mutation_p.D112V|GRM4_ENST00000455714.2_Missense_Mutation_p.D105V|GRM4_ENST00000374181.4_Missense_Mutation_p.D245V|GRM4_ENST00000374177.3_Missense_Mutation_p.D176V	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TGACTCACCGTCCTCACGGGA	0.637000													20	1					0	0	1	0	0
UGT3A1	133688	broad.mit.edu	37	5	35991330	35991330	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr5:35991330G>A	ENST00000274278.3	-	1	370	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	UGT3A1_ENST00000503189.1_Missense_Mutation_p.R5W|UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000513233.1_5'UTR|UGT3A1_ENST00000507113.1_Missense_Mutation_p.R5W	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	5						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGCAGCACCCGCTGCCCAACC	0.597000													4	102					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27087942	27087961	+	Frame_Shift_Del	DEL	ATCAAGCATTGCCCAAGATC	ATCAAGCATTGCCCAAGATC	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:27087942_27087961delATCAAGCATTGCCCAAGATC	ENST00000324856.7	+	6	2600_2619	c.2229_2248delATCAAGCATTGCCCAAGATC	c.(2227-2250)caatcaagcattgcccaagatcgafs	p.SSIAQDR744fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.SSIAQDR744fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.SSIAQDR361fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	744					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCATGAACCAATCAAGCATTGCCCAAGATCGAGGTGAGAG	0.532			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	94	---	---	---	---					
SFPQ	6421	broad.mit.edu	37	1	35653602	35653610	+	In_Frame_Del	DEL	CTTTCCTCT	CTTTCCTCT	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:35653602_35653610delCTTTCCTCT	ENST00000357214.5	-	7	1877_1885	c.1779_1787delAGAGGAAAG	c.(1777-1788)agagaggaaagt>agt	p.REE593del		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	593					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding	p.E594Q(1)	SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCGGCTGTAACTTTCCTCTCTTTGGCGCC	0.459			T	TFE3	papillary renal cell								16	265	---	---	---	---					
ZNF644	84146	broad.mit.edu	37	1	91406718	91406719	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:91406718_91406719insT	ENST00000370440.1	-	3	409_410	c.192_193insA	c.(190-195)acatcafs	p.S65fs	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Frame_Shift_Ins_p.S65fs|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	65					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTCTGAAATGATGTTTGACAAT	0.376													28	168	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													4	2	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cacagcfs	p.HS1901fs	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		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													8	399	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208224414	208224415	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr1:208224414_208224415insT	ENST00000367033.3	-	17	3951_3952	c.3194_3195insA	c.(3193-3195)aacfs	p.N1065fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1065	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGACATCCAGGTTGAAGCCTGT	0.495													21	90	---	---	---	---					
AC011322.1	0	broad.mit.edu	37	3	196713811	196713812	+	RNA	INS	-	-	ATC			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr3:196713811_196713812insATC	ENST00000445739.1	-	0	1_2																											CAATCTCTTCAGGATCTCTGTA	0.525													10	20	---	---	---	---					
ZNF292	23036	broad.mit.edu	37	6	87966739	87966746	+	Frame_Shift_Del	DEL	AAATGCAG	AAATGCAG	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr6:87966739_87966746delAAATGCAG	ENST00000369577.3	+	8	3435_3442	c.3392_3399delAAATGCAG	c.(3391-3399)aaaatgcagfs	p.KMQ1131fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KMQ1126fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1131					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTGCATTTAAAATGCAGCGCAAAAGTA	0.394													27	2	---	---	---	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													7	74	---	---	---	---					
VPS26B	112936	broad.mit.edu	37	11	134095110	134095110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr11:134095110delG	ENST00000281187.5	+	1	572	c.94delG	c.(94-96)gggfs	p.G32fs	VPS26B_ENST00000525095.2_Frame_Shift_Del_p.G32fs	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	32					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GACGGAGGACGGGAAGAAGGA	0.592													19	77	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48941669	48941670	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr13:48941669_48941670delAA	ENST00000267163.4	+	10	1117_1118	c.979_980delAA	c.(979-981)aaafs	p.K327fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	327					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AATTTATCTTAAAAATAAAGAT	0.302		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			34	3	---	---	---	---					
ZFP36L1	677	broad.mit.edu	37	14	69257168	69257169	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr14:69257168_69257169insC	ENST00000439696.2	-	2	399_400	c.98_99insG	c.(97-99)ggtfs	p.G33fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.G33fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	33					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCAGCAGGCAACCCCCTGCACT	0.579											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	42	7	---	---	---	---					
HEXIM1	10614	broad.mit.edu	37	17	43227201	43227203	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr17:43227201_43227203delAGG	ENST00000332499.2	+	1	2518_2520	c.644_646delAGG	c.(643-648)caggag>cag	p.E217del		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	217	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GATCACGACCAGGAGGAGCCGGA	0.606											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	196	---	---	---	---					
ZNF507	22847	broad.mit.edu	37	19	32844906	32844907	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr19:32844906_32844907insA	ENST00000311921.4	+	2	1362_1363	c.1170_1171insA	c.(1171-1173)aaafs	p.K391fs	ZNF507_ENST00000544431.1_Frame_Shift_Ins_p.K391fs|ZNF507_ENST00000355898.5_Frame_Shift_Ins_p.K391fs	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					GCAGCCCCAATAAAAAAGGGCA	0.441													23	54	---	---	---	---					
SEC14L4	284904	broad.mit.edu	37	22	30901568	30901568	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chr22:30901568delG	ENST00000255858.7	-	1	114	c.31delC	c.(31-33)cagfs	p.Q13fs	SEC14L4_ENST00000392772.2_5'UTR|SEC14L4_ENST00000540456.1_5'UTR|SEC14L4_ENST00000381982.3_Frame_Shift_Del_p.Q13fs	NM_001161368.1|NM_174977.3	NP_001154840.1|NP_777637.1	Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	13						integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TCCTGCTGCTGGGGGCTCAGG	0.741													2	4	---	---	---	---					
STAG2	10735	broad.mit.edu	37	X	123171389	123171390	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DK-A3X2-01A-11D-A22Z-08	TCGA-DK-A3X2-10A-01D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b6d9622-3948-448c-8d24-73e463336d7f	e19d0798-8651-4fc6-96e9-c1eb4f29c5e6	g.chrX:123171389_123171390delGA	ENST00000371160.1	+	6	591_592	c.301_302delGA	c.(301-303)gatfs	p.D101fs	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Frame_Shift_Del_p.D101fs|STAG2_ENST00000371157.3_Frame_Shift_Del_p.D101fs|STAG2_ENST00000371144.3_Frame_Shift_Del_p.D101fs|STAG2_ENST00000371145.3_Frame_Shift_Del_p.D101fs|STAG2_ENST00000354548.5_Frame_Shift_Del_p.D32fs	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	101					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GGTGGTAGATGATTGGATAGAA	0.307													58	6	---	---	---	---					
