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
CHD8	57680	broad.mit.edu	37	14	21871248	21871248	+	Silent	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr14:21871248A>G	uc001war.2	-	16	3707	c.3642T>C	c.(3640-3642)ctT>ctC	p.L1214L	CHD8_uc001was.2_Silent_p.L935L|CHD8_uc001wav.1_Silent_p.L377L	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1214	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding	p.L1214L(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GATTAATACCAAGTCCACCAG	0.483000													3	89					0	0	1	0	0
SHOX	6473	broad.mit.edu	37	X	601572	601572	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:601572G>A	uc004cph.1	+	3	1194	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	SHOX_uc004cpi.3_Missense_Mutation_p.R168Q	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	168			R -> W (in LMD).		skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R168Q(2)|p.R168R(1)		endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTCCAGAACCGGAGAGCCAAG	0.592000													45	137					0	0	1	0	0
ANKRD17	26057	broad.mit.edu	37	4	74043162	74043162	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:74043162C>A	uc003hgp.3	-	1	599	c.482G>T	c.(481-483)gGt>gTt	p.G161V	ANKRD17_uc003hgo.3_Missense_Mutation_p.G48V|ANKRD17_uc003hgq.3_Missense_Mutation_p.G161V|ANKRD17_uc003hgr.3_Missense_Mutation_p.G161V	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	161					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.G161V(3)		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)			GAGGTCTGCACCATCAGCAGT	0.413000													8	231					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113636959	113636959	+	Splice_Site	SNP	A	A	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:113636959A>T	uc001edf.1	+	5	714	c.516_splice	c.e5-2	p.L172_splice	LRIG2_uc009wgn.1_Splice_Site_p.L69_splice	NM_014813	NP_055628	O94898	LRIG2_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA.	172						cytoplasm|integral to membrane|plasma membrane		p.?(2)		breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTTATTTTAGGAATTTAAG	0.323000													4	80					0	0	1	0	0
SLC25A13	10165	broad.mit.edu	37	7	95750981	95750981	+	Silent	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:95750981A>G	uc003uog.4	-	16	2021	c.1830T>C	c.(1828-1830)atT>atC	p.I610I	SLC25A13_uc003uof.4_Silent_p.I609I|SLC25A13_uc011kik.2_Silent_p.I501I	NM_001160210	NP_001153682	Q9UJS0	CMC2_HUMAN	Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	609					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding	p.I609I(2)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTCCAAAATCAATGTAGAACC	0.413000													79	244					0	0	1	0	0
ITK	3702	broad.mit.edu	37	5	156670752	156670752	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:156670752C>T	uc003lwo.1	+	11	1262	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W		NM_005546	NP_005537	Q08881	ITK_HUMAN	Homo sapiens IL2-inducible T-cell kinase (ITK), mRNA.	394	Protein kinase.				T cell receptor signaling pathway|cellular defense response|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R394W(3)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAAACCATTCGGGAAGGGGC	0.498000			T	SYK	peripheral T-cell lymphoma								65	126					0	0	1	0	0
IKZF2	22807	broad.mit.edu	37	2	213886796	213886796	+	Silent	SNP	C	C	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:213886796C>G	uc002vem.3	-	5	802	c.633G>C	c.(631-633)ctG>ctC	p.L211L	IKZF2_uc010fuu.3_Silent_p.L66L|IKZF2_uc002vej.3_Silent_p.L158L|IKZF2_uc002vek.3_Non-coding_Transcript|IKZF2_uc010fuv.3_Silent_p.L185L|IKZF2_uc002vel.3_Silent_p.L132L|IKZF2_uc010fuw.3_5'UTR|IKZF2_uc010fux.3_5'UTR|IKZF2_uc010fuy.3_Intron|IKZF2_uc002ven.3_Silent_p.L185L	NM_016260	NP_057344	Q9UKS7	IKZF2_HUMAN	Homo sapiens IKAROS family zinc finger 2 (Helios) (IKZF2), transcript variant 1, mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L211L(2)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		TGTGCTCCTCCAGTGAACTGC	0.507000													6	122					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918697	154918697	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:154918697G>A	uc001ffr.3	-	9	1512	c.1453C>T	c.(1453-1455)Cgg>Tgg	p.R485W	PBXIP1_uc001ffs.3_Missense_Mutation_p.R456W|PBXIP1_uc010pep.2_Missense_Mutation_p.R330W	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	485					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity	p.R485W(2)		breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCAGCCTTCCGGTCTCTCTGC	0.552000													17	546					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33291705	33291705	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:33291705T>C	uc001bvz.3	+	2	282	c.5T>C	c.(4-6)aTg>aCg	p.M2T	S100PBP_uc001bwa.1_Missense_Mutation_p.M2T|S100PBP_uc001bwb.1_Missense_Mutation_p.M2T|S100PBP_uc001bwc.3_Missense_Mutation_p.M2T|S100PBP_uc001bwd.3_Non-coding_Transcript	NM_022753	NP_073590	Q96BU1	S1PBP_HUMAN	Homo sapiens S100P binding protein (S100PBP), transcript variant 1, mRNA.	2						nucleus	calcium-dependent protein binding	p.M2T(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCAGAAATGATGTGCTCACGG	0.428000													48	106					0	0	1	0	0
WDR43	23160	broad.mit.edu	37	2	29148007	29148007	+	Silent	SNP	T	T	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:29148007T>G	uc002rmo.2	+	7	1106	c.1074T>G	c.(1072-1074)acT>acG	p.T358T	SNORD53_uc002rmq.1_5'Flank|SNORD53_SNORD92_uc021vfj.1_5'Flank	NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	358						nucleolus		p.T401T(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCTACTATTGAGCGAG	0.413000													12	39					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2407936	2407936	+	Silent	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:2407936G>A	uc022brx.1	-	0	825	c.825C>T	c.(823-825)atC>atT	p.I275I	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.I275I|ZBED1_uc004cqg.2_Silent_p.I275I|ZBED1_uc022brw.1_Silent_p.I275I	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	275						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.I275I(2)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACGCCTTCACGATGTCCTTGC	0.627000													72	189					0	0	1	0	0
C1orf177	163747	broad.mit.edu	37	1	55280637	55280637	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:55280637C>T	uc001cyb.4	+	7	1029	c.975C>T	c.(973-975)ccC>ccT	p.P325P	C1orf177_uc001cya.4_Silent_p.P325P	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	325								p.P325P(2)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						AATGCAAACCCGTCAACCAGC	0.547000													41	140					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216236934	216236934	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:216236934C>A	uc002vfa.3	-	39	6678	c.6412G>T	c.(6412-6414)Ggg>Tgg	p.G2138W	FN1_uc002vfc.3_Missense_Mutation_p.G1932W|FN1_uc002vfe.3_Missense_Mutation_p.G2047W|FN1_uc002vff.3_Missense_Mutation_p.G2022W|FN1_uc002vfg.3_Missense_Mutation_p.G1957W|FN1_uc002vfh.3_Intron|FN1_uc002vfi.3_Missense_Mutation_p.G2138W|FN1_uc002vfj.3_Intron|FN1_uc002vfb.3_Missense_Mutation_p.G1957W|FN1_uc002vez.3_Missense_Mutation_p.G332W|FN1_uc010zjp.2_Missense_Mutation_p.G675W|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Intron|FN1_uc010fvb.1_Intron|FN1_uc010fvc.1_Intron|FN1_uc010fvd.1_Missense_Mutation_p.G229W	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2047	Fibronectin type-III 16.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	p.G2047W(1)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTTGTTGCCCAACACTGGGT	0.532000													4	145					0	0	1	0	0
RIOK1	83732	broad.mit.edu	37	6	7405482	7405482	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:7405482A>G	uc003mxn.3	+	12	1271	c.1097_splice	c.e12-1	p.D366_splice	RIOK1_uc003mxo.3_Splice_Site_p.D125_splice	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	366	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.D359G(1)|p.D366G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CTTCTGACAGATTTCTTTATG	0.363000													32	79					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684772	100684772	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:100684772A>G	uc003uxp.1	+	2	10128	c.10075A>G	c.(10075-10077)Acc>Gcc	p.T3359A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3359	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T3359A(2)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGAGGCTAGCACCCTTTCCAC	0.488000													123	436					0	0	1	0	0
EXT1	2131	broad.mit.edu	37	8	118812096	118812096	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:118812096G>T	uc003yok.1	-	10	2869	c.2096C>A	c.(2095-2097)gCc>gAc	p.A699D		NM_000127	NP_000118	Q16394	EXT1_HUMAN	Homo sapiens exostosin 1 (EXT1), mRNA.	699					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	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity|protein homodimerization activity	p.A699D(2)|p.F698S(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)			CTGTCGCTGGGCAAAGTGGTC	0.527000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				3	112					0	0	1	0	0
PDS5B	23047	broad.mit.edu	37	13	33252986	33252986	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr13:33252986A>G	uc010abf.3	+	9	1163	c.977A>G	c.(976-978)cAt>cGt	p.H326R	PDS5B_uc001uuo.3_Missense_Mutation_p.H326R|PDS5B_uc010abg.3_Non-coding_Transcript|PDS5B_uc010teb.2_Missense_Mutation_p.H28R	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	326				H -> N (in Ref. 8; AAH39256).	cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	p.H326R(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		AATGATATCCATGTACCAATC	0.333000													17	84					0	0	1	0	0
CACNB2	783	broad.mit.edu	37	10	18828621	18828621	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:18828621G>A	uc001ipr.2	+	13	2011	c.1951G>A	c.(1951-1953)Gag>Aag	p.E651K	CACNB2_uc001ipt.2_Missense_Mutation_p.E613K|CACNB2_uc009xjz.1_Missense_Mutation_p.E401K|CACNB2_uc001ips.2_Missense_Mutation_p.E627K|CACNB2_uc001ipu.3_Missense_Mutation_p.E623K|CACNB2_uc001ipv.3_Missense_Mutation_p.E599K|CACNB2_uc009xka.2_Missense_Mutation_p.E585K|CACNB2_uc001ipw.2_Missense_Mutation_p.E558K|CACNB2_uc001ipx.2_Missense_Mutation_p.E596K|CACNB2_uc001ipz.2_Missense_Mutation_p.E573K|CACNB2_uc001ipy.2_Missense_Mutation_p.E597K|CACNB2_uc010qco.1_Missense_Mutation_p.E565K|CACNB2_uc001iqa.2_Missense_Mutation_p.E603K|NSUN6_uc001iqb.3_Intron	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	651					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.E596K(1)|p.E627K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TGAGGCTGGGGAGTGGAACAG	0.423000													9	120					0	0	1	0	0
CCDC22	28952	broad.mit.edu	37	X	49099406	49099406	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:49099406C>A	uc004dnd.2	+	3	586	c.416C>A	c.(415-417)gCa>gAa	p.A139E	CCDC22_uc011mna.2_Missense_Mutation_p.A139E	NM_014008	NP_054727	O60826	CCD22_HUMAN	Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.	139								p.A139E(3)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GACCAGCTGGCACTGCCTTGG	0.587000													4	5					0	0	1	0	0
ZNF181	339318	broad.mit.edu	37	19	35232275	35232275	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:35232275T>C	uc002nvu.3	+	3	1452	c.989T>C	c.(988-990)tTt>tCt	p.F330S	ZNF181_uc010xsb.1_Missense_Mutation_p.F329S|ZNF181_uc010xsc.1_Missense_Mutation_p.F265S	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F266S(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GGAAAGTCTTTTAGTCGTGTG	0.398000													3	168					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38949466	38949466	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:38949466C>A	uc021wvy.1	-	9	1646	c.1447G>T	c.(1447-1449)Gat>Tat	p.D483Y		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	483					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D483Y(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TCATCAGAATCTGACCCAGGA	0.398000													4	224					0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83998851	83998851	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:83998851T>C	uc002fha.3	+	6	922	c.922T>C	c.(922-924)Ttc>Ctc	p.F308L	OSGIN1_uc002fhb.3_Missense_Mutation_p.F225L|OSGIN1_uc002fhc.3_Missense_Mutation_p.F225L	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	308					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity	p.F308L(2)		autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						GGTGAGCGGCTTCCTGACCAG	0.692000													21	69					0	0	1	0	0
ROBO4	54538	broad.mit.edu	37	11	124756546	124756546	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:124756546C>T	uc001qbg.3	-	15	2748	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K	ROBO4_uc010sas.2_Missense_Mutation_p.E725K|ROBO4_uc001qbh.2_3'UTR|ROBO4_uc001qbi.3_Missense_Mutation_p.E428K	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	870					angiogenesis|cell differentiation	integral to membrane	receptor activity	p.E870K(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		AAGGAGCCCTCGCTGGGGGTG	0.667000													14	33					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79747250	79747250	+	Silent	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:79747250C>A	uc003hlk.3	+	1	404	c.238C>A	c.(238-240)Cga>Aga	p.R80R	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Silent_p.R80R	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	80	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity	p.R80R(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TGCATTGAAGCGAATGTATGT	0.363000													4	238					0	0	1	0	0
MID2	11043	broad.mit.edu	37	X	107159358	107159358	+	Splice_Site	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:107159358A>G	uc004enl.3	+	6	1774	c.1201_splice	c.e6+1	p.A401_splice	MID2_uc004enk.3_Splice_Site_p.A401_splice	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	401	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding	p.T380T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						ATTATTTAACAGGTGTGAAAA	0.274000													3	196					0	0	1	0	0
TRAPPC6A	79090	broad.mit.edu	37	19	45668125	45668125	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:45668125G>A	uc002paw.3	-	2	275	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C	TRAPPC6A_uc002pav.3_Missense_Mutation_p.R100C			O75865	TPC6A_HUMAN	Homo sapiens trafficking protein particle complex 6A (TRAPPC6A), mRNA.	86					vesicle-mediated transport	Golgi apparatus|endoplasmic reticulum	guanylate cyclase activity|heme binding	p.R100C(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	8		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233)		TGATTGGTGCGCAGGCTGTCC	0.647000													4	158					0	0	1	0	0
FIGN	55137	broad.mit.edu	37	2	164466420	164466420	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:164466420C>A	uc002uck.1	-	2	2233	c.1922G>T	c.(1921-1923)cGg>cTg	p.R641L		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	641						nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.R641L(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						GAAGTACCTCCGAAGGGATTC	0.433000													4	236					0	0	1	0	0
GGA3	23163	broad.mit.edu	37	17	73235138	73235138	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:73235138C>T	uc002jni.2	-	14	1846	c.1807G>A	c.(1807-1809)Gat>Aat	p.D603N	GGA3_uc002jnk.2_Missense_Mutation_p.D531N|GGA3_uc002jnj.2_Missense_Mutation_p.D570N|GGA3_uc010wry.2_Missense_Mutation_p.D531N|GGA3_uc010wrw.2_Missense_Mutation_p.D481N|GGA3_uc010wrx.2_Missense_Mutation_p.D481N	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	603	GAE.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding	p.D603N(2)		breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			CCGTTTTTATCGTAGGCTGTC	0.592000											OREG0024729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	27					0	0	1	0	0
FXR2	9513	broad.mit.edu	37	17	7495581	7495581	+	Silent	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7495581T>C	uc002gia.2	-	15	2282	c.1917A>G	c.(1915-1917)tcA>tcG	p.S639S	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	639						cytosolic large ribosomal subunit	RNA binding|protein binding	p.S639S(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CCTTCTGTCCTGAAAGAGAGT	0.507000													3	144					0	0	1	0	0
HLA-DQB2	3120	broad.mit.edu	37	6	32726626	32726626	+	Splice_Site	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:32726626C>T	uc003obz.2	-	3	729	c.646_splice	c.e3+1	p.R216_splice	HLA-DQB2_uc003oby.4_Splice_Site_p.R216_splice	NM_001198858	NP_001185787	Q5SR06	Q5SR06_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ beta 2 (HLA-DQB2), mRNA.	216					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	MHC class II protein complex|integral to membrane		p.?(1)		endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						TTTCCCCTTACGCCACTCCAC	0.562000													23	66					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90020309	90020309	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr12:90020309T>C	uc001tbh.3	-	6	1232	c.1051A>G	c.(1051-1053)Aaa>Gaa	p.K351E	ATP2B1_uc001tbg.3_Missense_Mutation_p.K351E|ATP2B1_uc001tbf.3_Missense_Mutation_p.K21E	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	351					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	p.K351E(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AAATTTGCTTTCTTTTTATCT	0.373000													21	190					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251248	25251248	+	Silent	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:25251248G>T	uc002dod.4	-	6	3200	c.2793C>A	c.(2791-2793)acC>acA	p.T931T	ZKSCAN2_uc010vcl.2_Silent_p.T727T	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	931					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T931T(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCCGATGTTTGGTAAGAACAG	0.463000													4	195					0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34505	34505	+	RNA	SNP	A	A	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrGL000241.1:34505A>C	uc011mgv.2	-	2		c.379T>G								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		CAACATATCAAGCTGGGTttc	0.289000													3	105					0	0	1	0	0
AK308867	0	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:70268158A>C	uc010cfp.1	-	2		c.257T>G								Homo sapiens cDNA, FLJ98908.																		TTCTTCATTAAAACAGCTACT	0.333000													3	10					0	0	1	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185542687	185542687	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:185542687T>C	uc003fpo.3	-	0	141	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	IGF2BP2_uc003fpp.3_Missense_Mutation_p.Q21R|IGF2BP2_uc003fpq.3_Missense_Mutation_p.Q20R	NM_006548	NP_006539	Q9Y6M1	IF2B2_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA.	21	RRM 1.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	p.Q21R(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			CCCAAAGAGCTGCCGGAGGTC	0.682000													3	14					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82808055	82808055	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:82808055C>T	uc003kii.3	+	5	1238	c.882C>T	c.(880-882)tgC>tgT	p.C294C	VCAN_uc003kij.3_Silent_p.C294C|VCAN_uc010jau.2_Silent_p.C294C|VCAN_uc003kik.3_Silent_p.C294C|VCAN_uc003kih.4_Silent_p.C294C	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	294	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.C294C(3)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTGACCAGTGCGATTACGGGT	0.602000													9	81					0	0	1	0	0
VPS53	55275	broad.mit.edu	37	17	465950	465950	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:465950T>C	uc010cjo.2	-	13	1496	c.1349A>G	c.(1348-1350)gAt>gGt	p.D450G	VPS53_uc002frk.3_5'UTR|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Missense_Mutation_p.D421G|VPS53_uc002frn.2_Missense_Mutation_p.D450G|VPS53_uc002fro.2_Missense_Mutation_p.D252G|VPS53_uc010cjp.1_Missense_Mutation_p.D173G	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	450					protein transport	Golgi apparatus|endosome membrane		p.D421G(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GGCTTTGAAATCAGCCACAAA	0.478000													9	53					0	0	1	0	0
SPANXN1	494118	broad.mit.edu	37	X	144337274	144337274	+	Silent	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chrX:144337274G>T	uc004fcb.2	+	1	159	c.159G>T	c.(157-159)gcG>gcT	p.A53A		NM_001009614	NP_001009614	Q5VSR9	SPXN1_HUMAN	Homo sapiens SPANX family, member N1 (SPANXN1), mRNA.	53								p.A53A(6)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTATTAGCGTTTTGCTACA	0.433000													3	123					0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	121976298	121976298	+	Missense_Mutation	SNP	G	G	A	rs148052034	by1000genomes	TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr9:121976298G>A	uc004bkc.2	-	5	1277	c.821C>T	c.(820-822)cCg>cTg	p.P274L	DBC1_uc004bkd.2_Missense_Mutation_p.P274L	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	274					cell cycle arrest|cell death	cytoplasm	protein binding	p.P274L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTTGCACTGCGGAAACTCCTC	0.547000													34	113					0	0	1	0	0
ZNFX1	57169	broad.mit.edu	37	20	47864642	47864642	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr20:47864642A>G	uc002xui.3	-	13	5166	c.4919T>C	c.(4918-4920)cTa>cCa	p.L1640P		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1640							metal ion binding	p.L1640P(3)		cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AATCTCTTCTAGCCGCTGTTT	0.507000													42	82					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140123402	140123402	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr3:140123402C>T	uc003etn.3	+	3	621	c.431C>T	c.(430-432)gCc>gTc	p.A144V	CLSTN2_uc003etm.2_Missense_Mutation_p.A144V	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	144	Cadherin 1.				homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding	p.A144V(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTCCCAGGGCCGTGGTCCAT	0.547000										HNSCC(16;0.037)			21	91					0	0	1	0	0
ARID5A	10865	broad.mit.edu	37	2	97216909	97216909	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:97216909G>A	uc002swe.3	+	6	744	c.644G>A	c.(643-645)aGc>aAc	p.S215N	ARID5A_uc010yuq.2_Missense_Mutation_p.S163N|ARID5A_uc002swf.3_Missense_Mutation_p.S51N|ARID5A_uc002swg.3_Missense_Mutation_p.S163N	NM_212481	NP_997646	Q03989	ARI5A_HUMAN	Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA.	215					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding	p.S215N(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						CCCAGGAACAGCACAGAACAG	0.587000													4	155					0	0	1	0	0
TMEM9B	56674	broad.mit.edu	37	11	8969885	8969885	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:8969885C>T	uc001mhe.1	-	4	708	c.579G>A	c.(577-579)cgG>cgA	p.R193R	TMEM9B_uc001mhf.1_Silent_p.R119R|TMEM9B_uc010rbt.1_Silent_p.R119R	NM_020644	NP_065695	Q9NQ34	TMM9B_HUMAN	Homo sapiens TMEM9 domain family, member B (TMEM9B), mRNA.	193					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity	p.R193R(2)		breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		GGACAACATGCCGGTCAAAGA	0.488000													4	235					0	0	1	0	0
TRAF3IP2	10758	broad.mit.edu	37	6	111912533	111912533	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr6:111912533G>T	uc011ebc.2	-	2	1372	c.757C>A	c.(757-759)Ccc>Acc	p.P253T	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.P253T|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.P253T|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.P253T|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.P253T	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	262					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular		p.P253T(1)|p.P262T(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GAAAGATTGGGAGGCAGCATC	0.537000													31	48					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79026181	79026181	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:79026181C>T	uc003kgc.3	+	1	1665	c.1593C>T	c.(1591-1593)atC>atT	p.I531I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	531	Glu-rich.					perinuclear region of cytoplasm		p.I531I(3)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGAAGAGATCGTAGAACTTG	0.418000													83	156					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			24	38					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15468434	15468434	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:15468434C>T	uc002rcc.1	-	36	4376	c.4350G>A	c.(4348-4350)ggG>ggA	p.G1450G	NBAS_uc010exl.1_Silent_p.G522G|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1450								p.G1450G(4)|p.G1450V(2)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CACATTTTTGCCCCTaaaaag	0.388000													5	303					0	0	1	0	0
STAT5B	6777	broad.mit.edu	37	17	40362212	40362212	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:40362212G>A	uc002hzh.3	-	14	2052	c.1883C>T	c.(1882-1884)aCc>aTc	p.T628I		NM_012448	NP_036580	P51692	STA5B_HUMAN	Homo sapiens signal transducer and activator of transcription 5B (STAT5B), mRNA.	628	SH2.				2-oxoglutarate metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity	p.T628I(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	CCAAGCAATGGTGATGCCGCC	0.428000													3	86					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5598870	5598870	+	Silent	SNP	G	G	A	rs149716077		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:5598870G>A	uc002mcd.3	-	12	1928	c.1716C>T	c.(1714-1716)gtC>gtT	p.V572V		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding	p.V572V(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TATCCATCACGACCGTCCGCT	0.507000													30	75					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23056931	23056931	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr8:23056931C>A	uc003xda.3	-	7	968	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	288					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding	p.G288W(3)		NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		GCCCCAGGCCCTCGTAGGAGA	0.602000													4	90					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90872798	90872798	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:90872798G>C	uc003hst.3	+	6	3232	c.3161G>C	c.(3160-3162)gGc>gCc	p.G1054A	MMRN1_uc010iku.3_Missense_Mutation_p.G357A|MMRN1_uc011cds.2_Missense_Mutation_p.G796A	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1054	EGF-like.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		p.G1054A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAAAATGGGGGCACGTGCATA	0.423000													31	81					0	0	1	0	0
NPAT	4863	broad.mit.edu	37	11	108031665	108031665	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:108031665C>T	uc001pjz.4	-	16	4250	c.4148G>A	c.(4147-4149)cGt>cAt	p.R1383H	NPAT_uc010rvv.2_Missense_Mutation_p.R439H	NM_002519	NP_002510	Q14207	NPAT_HUMAN	Homo sapiens nuclear protein, ataxia-telangiectasia locus (NPAT), mRNA.	1383					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.R1383H(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ACTAGAAGGACGAGAGTTTCG	0.333000													28	89					0	0	1	0	0
SLC2A9	56606	broad.mit.edu	37	4	9828095	9828095	+	Silent	SNP	T	T	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:9828095T>G	uc003gmc.3	-	11	1610	c.1549A>C	c.(1549-1551)Agg>Cgg	p.R517R	SLC2A9_uc003gmd.3_Silent_p.R488R	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	517					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	p.R488R(1)|p.R517R(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						GCTTTGTTCCTTTTGGAAAAT	0.428000													6	316					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904125	21904125	+	RNA	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:21904125G>A	uc002gza.2	+	0		c.64G>A								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		ggagtcgcaaggggccgagca	0.697000													3	63					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140237390	140237390	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:140237390C>T	uc003lhx.2	+	0	1757	c.1757C>T	c.(1756-1758)gCg>gTg	p.A586V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.A586V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	600					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A586V(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGTGGTTGCGGGTCACGTG	0.657000													13	28					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19338359	19338359	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:19338359C>G	uc002nlz.3	+	7	2029	c.1930C>G	c.(1930-1932)Cta>Gta	p.L644V	NCAN_uc010ecc.1_Missense_Mutation_p.L208V	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	644					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	p.L644V(3)|p.L658V(1)		breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAGTGGATGCTACCACACCC	0.637000													7	76					0	0	1	0	0
OR5I1	10798	broad.mit.edu	37	11	55703643	55703643	+	Missense_Mutation	SNP	G	G	T	rs144543203		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr11:55703643G>T	uc010ris.2	-	0	234	c.234C>A	c.(232-234)gaC>gaA	p.D78E		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D78E(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGGAACAATGTCTGAGAAAT	0.383000													4	104					0	0	1	0	0
NPC1L1	29881	broad.mit.edu	37	7	44561339	44561339	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr7:44561339A>C	uc003tlb.3	-	11	2981	c.2925T>G	c.(2923-2925)aaT>aaG	p.N975K	NPC1L1_uc011kbw.2_Missense_Mutation_p.N929K|NPC1L1_uc003tlc.3_Missense_Mutation_p.N975K|NPC1L1_uc003tla.3_5'Flank	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	975					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.N975K(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACTTGTCCTTATTGGGGCCAG	0.577000													3	110					0	0	1	0	0
GIPC3	126326	broad.mit.edu	37	19	3589510	3589510	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr19:3589510C>A	uc002lyd.4	+	3	689	c.662C>A	c.(661-663)aCc>aAc	p.T221N		NM_133261	NP_573568	Q8TF64	GIPC3_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.	221								p.T221N(2)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGAGGGAGACCCTGCGGCTT	0.612000													10	81					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209292995	209292995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr2:209292995G>T	uc010zjb.2	+	1	464	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	PTH2R_uc002vdb.3_Nonsense_Mutation_p.E49*	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	49						integral to plasma membrane	parathyroid hormone receptor activity	p.E49*(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGTACAATGTGAACTCAACAT	0.413000													3	43					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118357365	118357365	+	Silent	SNP	C	C	T	rs113515929	by1000genomes	TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr10:118357365C>T	uc001lco.1	+	6	618	c.600C>T	c.(598-600)ttC>ttT	p.F200F	PNLIPRP1_uc001lcp.2_Silent_p.F200F|PNLIPRP1_uc009xys.1_Non-coding_Transcript	NM_006229	NP_006220	P54315	LIPR1_HUMAN	Homo sapiens pancreatic lipase-related protein 1 (PNLIPRP1), mRNA.	200					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.F200F(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AAGCAAGTTTCGAGAGTACTC	0.493000													43	119					0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73887232	73887232	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr17:73887232C>T	uc002jpx.3	-	5	1218	c.1182G>A	c.(1180-1182)tcG>tcA	p.S394S		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	394	B30.2/SPRY.					intracellular	zinc ion binding	p.S394S(2)		endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAGTGTCACCGAGTGGTCTG	0.692000													4	88					0	0	1	0	0
CACNG3	10368	broad.mit.edu	37	16	24373178	24373178	+	Silent	SNP	C	C	T			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:24373178C>T	uc002dmf.3	+	3	2144	c.942C>T	c.(940-942)ccC>ccT	p.P314P		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	314					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P314P(2)|p.P314H(1)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCACCACGCCCGTCTGAACTG	0.552000													27	72					0	0	1	0	0
GANC	2595	broad.mit.edu	37	15	42602622	42602622	+	Silent	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr15:42602622G>A	uc001zpi.3	+	8	1178	c.864G>A	c.(862-864)tcG>tcA	p.S288S	GANC_uc001zph.3_Silent_p.S288S	NM_198141	NP_937784	Q8TET4	GANC_HUMAN	Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA.	288					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity	p.S288S(4)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TGAATGCCTCGGAAACACTGG	0.418000													36	70					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181762828	181762828	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr1:181762828G>A	uc009wxt.3	+	44	6121	c.5926G>A	c.(5926-5928)Gtg>Atg	p.V1976M	CACNA1E_uc001gow.3_Intron|CACNA1E_uc009wxs.3_Intron	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1976					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V1976M(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ATTAAAAAGCGTGCAGCCCTC	0.517000													6	27					0	0	1	0	0
IRF2	3660	broad.mit.edu	37	4	185340707	185340707	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr4:185340707delG	uc003iwf.4	-	2	303	c.103delC	c.(103-105)cagfs	p.Q35fs		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	35					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGGGATCTGAAAAATCTTC	0.423													24	73	---	---	---	---					
BC016291	0	broad.mit.edu	37	5	180699084	180699085	+	RNA	INS	-	A	A			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr5:180699084_180699085insA	uc003mnq.3	+	2		c.448_449insA								Homo sapiens cDNA clone IMAGE:3910094, partial cds.																		GGCTTTCCATCAGAAAAAAAAA	0.411													2	4	---	---	---	---					
USP31	57478	broad.mit.edu	37	16	23080918	23080918	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr16:23080918delT	uc002dll.3	-	15	2508	c.2508delA	c.(2506-2508)ccafs	p.P836fs	USP31_uc002dlk.3_Frame_Shift_Del_p.P108fs|USP31_uc010vca.2_Frame_Shift_Del_p.P139fs|USP31_uc010bxm.3_Frame_Shift_Del_p.P124fs	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	836	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTCACAAATGGTCGAGTTG	0.443													12	49	---	---	---	---					
ADNP	23394	broad.mit.edu	37	20	49508203	49508204	+	Frame_Shift_Ins	INS	-	T	T	rs6096163		TCGA-EJ-5514-01A-01D-1576-08	TCGA-EJ-5514-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f28f091d-5cd5-447f-b956-3ef7eb305fe2	7b498228-7d17-4b2e-b815-123ebfe1f366	g.chr20:49508203_49508204insT	uc002xvt.1	-	4	3392_3393	c.3047_3048insA	c.(3046-3048)aagfs	p.K1016fs	ADNP_uc002xvu.1_Frame_Shift_Ins_p.K1016fs	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	1016						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						GCATGGTAGCCTTTTTTTTGGC	0.460													8	316	---	---	---	---					
