Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TBC1D25	4943	broad.mit.edu	37	X	48418349	48418349	+	Silent	SNP	C	A	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:48418349C>A	uc011mmb.1	+	5	1151	c.1065C>A	c.(1063-1065)gcC>gcA	p.A355A	TBC1D25_uc004dka.1_Silent_p.A351A|TBC1D25_uc011mly.1_Silent_p.A293A|TBC1D25_uc004dkb.1_Silent_p.A97A|TBC1D25_uc011mlz.1_Silent_p.A97A|TBC1D25_uc011mma.1_Silent_p.A97A|TBC1D25_uc004dkc.1_Silent_p.A97A|TBC1D25_uc011mmd.1_Silent_p.A97A|TBC1D25_uc011mmc.1_Silent_p.A97A	NM_002536	NP_002527	Q3MII6	TBC25_HUMAN	Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA.	351	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGGGCCATGCCTTTGTTTGCT	0.582000														77			10		0.00621372	0.00621372	1	1	0
PCLO	27445	broad.mit.edu	37	7	82544701	82544701	+	Missense_Mutation	SNP	A	T	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:82544701A>T	uc003uhx.2	-	6	12890	c.12601T>A	c.(12601-12603)Tca>Aca	p.S4201T	PCLO_uc003uhv.2_Missense_Mutation_p.S4201T|PCLO_uc010lec.3_Missense_Mutation_p.S1166T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4132					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAAATTTTGACATTTTAGGG	0.378000														119			20		0	0	1	0	0
DDX60	55601	broad.mit.edu	37	4	169196590	169196590	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr4:169196590C>T	uc003irp.3	-	15	2502	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	737							ATP binding|ATP-dependent helicase activity|RNA binding	p.R737Q(3)|p.R737W(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		CAGTTGGAACCGAGCTGGCCC	0.393000														230			4		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119024755	119024755	+	Silent	SNP	G	A	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:119024755G>A	uc001pvs.3	+	2	594	c.258G>A	c.(256-258)aaG>aaA	p.K86K	ABCG4_uc009zar.3_Silent_p.K86K|ABCG4_uc001pvt.1_Non-coding_Transcript	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	86	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCCTTCTCAAGTGCCTCTCAG	0.522000														104			18		0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79320843	79320843	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:79320843T>C	uc010mpk.3	-	7	6471	c.6347A>G	c.(6346-6348)gAg>gGg	p.E2116G	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1938G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	2116					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCAGTCTCTTGCTTTGC	0.483000														109			4		0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	31645807	31645807	+	Missense_Mutation	SNP	G	T	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:31645807G>T	uc004dda.1	-	54	8444	c.8200C>A	c.(8200-8202)Ctg>Atg	p.L2734M	DMD_uc004dcr.1_Missense_Mutation_p.L274M|DMD_uc004dcs.1_Missense_Mutation_p.L274M|DMD_uc004dct.1_Missense_Mutation_p.L274M|DMD_uc004dcu.1_Missense_Mutation_p.L274M|DMD_uc004dcv.1_Missense_Mutation_p.L274M|DMD_uc004dcw.2_Missense_Mutation_p.L1390M|DMD_uc004dcx.2_Missense_Mutation_p.L1393M|DMD_uc004dcz.2_Missense_Mutation_p.L2611M|DMD_uc004dcy.1_Missense_Mutation_p.L2730M|DMD_uc004ddb.1_Missense_Mutation_p.L2726M	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2734					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGTTTCATCAGCTCTTTTACT	0.448000														174			5		0.00116845	0.00122409	1	1	0
SPINK5	11005	broad.mit.edu	37	5	147499644	147499644	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr5:147499644C>T	uc003lox.2	+	24	2459	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	SPINK5_uc010jgr.2_Missense_Mutation_p.R777W|SPINK5_uc003low.2_Missense_Mutation_p.R796W|SPINK5_uc003loy.2_Missense_Mutation_p.R796W	NM_006846	NP_006837	Q9NQ38	ISK5_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 5 (SPINK5), transcript variant 2, mRNA.	796	Kazal-like 12.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCTGTCCGGGGTCCAGA	0.388000														97			3		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48669762	48669762	+	Silent	SNP	G	A	A	rs146756914	by1000genomes	TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:48669762G>A	uc003cuf.1	-	40	10716	c.10716C>T	c.(10714-10716)aaC>aaT	p.N3572N	CELSR3_uc003cug.3_Silent_p.N146N|CELSR3_uc011bbp.2_Intron|CELSR3_uc010hke.3_Silent_p.N18N|CELSR3_uc003cuk.3_Intron|CELSR3_uc003cuh.3_Silent_p.N167N|CELSR3_uc003cui.3_Silent_p.N167N|CELSR3_uc003cuj.3_Silent_p.N167N	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	0					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCATGGAGTCGTTCAAGGCCT	0.592000														85			51		0	0	1	0	0
TBC1D13	54662	broad.mit.edu	37	9	131565713	131565713	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr9:131565713C>T	uc010myj.3	+	7	851	c.728C>T	c.(727-729)gCc>gTc	p.A243V	TBC1D13_uc010myk.3_Intron|TBC1D13_uc010myl.3_Missense_Mutation_p.A62V	NM_018201	NP_060671	Q9NVG8	TBC13_HUMAN	Homo sapiens TBC1 domain family, member 13 (TBC1D13), mRNA.	243	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TACACCTTTGCCACCGACCCC	0.567000														77			51		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70231281	70231281	+	Silent	SNP	C	T	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:70231281C>T	uc003tvw.4	+	8	2385	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	AUTS2_uc003tvx.4_Silent_p.I550I|AUTS2_uc011keg.2_5'UTR	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	550										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCCACGCCATCCCACCCACCG	0.612000														34			15		0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99476685	99476685	+	Silent	SNP	T	C	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr13:99476685T>C	uc001vnt.2	-	45	5155	c.5100A>G	c.(5098-5100)gaA>gaG	p.E1700E	DOCK9_uc001vnw.2_Silent_p.E1699E|DOCK9_uc021rlw.1_Silent_p.E1699E|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Silent_p.E1677E|DOCK9_uc001vnq.2_Silent_p.E249E|DOCK9_uc001vnr.2_Silent_p.E343E|DOCK9_uc010tin.1_Silent_p.E320E|DOCK9_uc001vns.2_Silent_p.E249E|DOCK9_uc010tio.1_Silent_p.E369E|DOCK9_uc010tip.1_Silent_p.E410E|DOCK9_uc001vnu.1_Silent_p.E249E|DOCK9_uc010tiq.1_Silent_p.E655E	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	1700	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCCCACGTCTTCCATCATGG	0.542000														48			4		0	0	1	0	0
GATA1	2623	broad.mit.edu	37	X	48652278	48652278	+	Missense_Mutation	SNP	C	G	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chrX:48652278C>G	uc004dkq.4	+	5	1040	c.949C>G	c.(949-951)Cgg>Ggg	p.R317G		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	317					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						GAAAAAGAAACGGGGCTCCAG	0.602000			"""Mis, F"""		megakaryoblastic leukemia of Downs Syndrome									169			9		0	0	1	0	0
CHRM2	1129	broad.mit.edu	37	7	136699614	136699614	+	Missense_Mutation	SNP	T	A	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr7:136699614T>A	uc003vtf.1	+	3	625	c.2T>A	c.(1-3)aTg>aAg	p.M1K	CHRM2_uc003vtg.1_Missense_Mutation_p.M1K|CHRM2_uc003vti.1_Missense_Mutation_p.M1K|CHRM2_uc003vtm.1_Missense_Mutation_p.M1K|CHRM2_uc003vtj.1_Missense_Mutation_p.M1K|CHRM2_uc003vtk.1_Missense_Mutation_p.M1K|CHRM2_uc003vtl.1_Missense_Mutation_p.M1K|CHRM2_uc003vtn.1_Missense_Mutation_p.M1K|CHRM2_uc003vto.1_Missense_Mutation_p.M1K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Splice_Site_p.M1_splice	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	1					G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	GAACGCAAAATGAATAACTCA	0.338000														155			4		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63316516	63316516	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr14:63316516T>C	uc001xfx.3	-	7	1475	c.1424A>G	c.(1423-1425)tAt>tGt	p.Y475C	KCNH5_uc001xfy.3_Missense_Mutation_p.Y475C|KCNH5_uc001xfz.1_Missense_Mutation_p.Y417C	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	475					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		GGTGTTGGCATACATTTGCTG	0.358000														140			4		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14024412	14024412	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr19:14024412G>C	uc002mxo.2	+	5	1008	c.709G>C	c.(709-711)Gcc>Ccc	p.A237P	CC2D1A_uc002mxn.2_Missense_Mutation_p.A136P|CC2D1A_uc002mxp.2_Missense_Mutation_p.A237P|CC2D1A_uc010dzh.2_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	237	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CACCGCCCCAGCCTCATCTCC	0.672000														69			20		0	0	1	0	0
MN1	4330	broad.mit.edu	37	22	28193289	28193289	+	Silent	SNP	C	T	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr22:28193289C>T	uc003adj.3	-	0	4198	c.3243G>A	c.(3241-3243)tcG>tcA	p.S1081S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1081							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGAGTTTGGGCGAGCCGGTCA	0.662000			T	ETV6	"""AML, meningioma"""									7			3		0	0	1	0	0
POLR2A	5430	broad.mit.edu	37	17	7404959	7404959	+	Missense_Mutation	SNP	T	C	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7404959T>C	uc002ghf.4	+	13	2646	c.2260T>C	c.(2260-2262)Tcc>Ccc	p.S754P		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	754					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|RNA-directed RNA polymerase activity|metal ion binding|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAAGACTGGCTCCTCTGCTCA	0.502000														85			4		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1018714	1018714	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr11:1018714G>A	uc001lsw.2	-	30	4138	c.4087C>T	c.(4087-4089)Cgt>Tgt	p.R1363C		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1363	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGGTTGGACGTGGGCCTGTC	0.542000														276			5		0	0	1	0	0
LPIN2	9663	broad.mit.edu	37	18	2937725	2937725	+	Missense_Mutation	SNP	G	A	A	rs146067222		TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr18:2937725G>A	uc002klo.3	-	6	1372	c.1133C>T	c.(1132-1134)cCg>cTg	p.P378L		NM_014646	NP_055461	Q92539	LPIN2_HUMAN	Homo sapiens lipin 2 (LPIN2), mRNA.	378					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TTTAGCTGCCGGTTTGGATTC	0.453000														47			34		0	0	1	0	0
ODZ3	55714	broad.mit.edu	37	4	183594221	183594221	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr4:183594221G>A	uc003ivd.1	+	5	1250	c.1175G>A	c.(1174-1176)cGa>cAa	p.R392Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	392					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GATATTGGCCGAAGAGCAATT	0.388000														116			6		0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578507	7578507	+	Missense_Mutation	SNP	G	C	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7578507G>C	uc002gim.2	-	4	617	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_uc002gig.1_Missense_Mutation_p.C141W|TP53_uc002gih.3_Missense_Mutation_p.C141W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C9W|TP53_uc010cnf.1_Missense_Mutation_p.C9W|TP53_uc002gii.1_Missense_Mutation_p.C9W|TP53_uc010cni.1_Missense_Mutation_p.C141W|TP53_uc010cnh.1_Missense_Mutation_p.C141W|TP53_uc002gij.2_Missense_Mutation_p.C141W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C48W|TP53_uc002gio.2_Missense_Mutation_p.C9W|TP53_uc010vug.2_Missense_Mutation_p.C102W	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.C141Y(70)|p.C141W(24)|p.C141*(23)|p.T140I(12)|p.C141R(12)|p.C141C(8)|p.0?(8)|p.T140T(6)|p.A138_P142delAKTCP(6)|p.C141F(4)|p.C141S(3)|p.C141fs*29(3)|p.L137_W146del10(2)|p.A138_V143delAKTCPV(2)|p.N131fs*27(2)|p.C141A(2)|p.C141G(2)|p.C141_P142insXX(2)|p.T140fs*28(2)|p.C141fs*8(2)|p.C141fs*5(2)|p.K139fs*4(1)|p.F134_T140>S(1)|p.A45_P49delAKTCP(1)|p.T140fs*9(1)|p.K139_T140delKT(1)|p.C141fs*34(1)|p.C141fs*30(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.T140N(1)|p.C48W(1)|p.K139_C141>N(1)|p.C135_T140delCQLAKT(1)|p.T140fs*30(1)|p.P142del(1)|p.P142fs*7(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)		GCTGCACAGGGCAGGTCTTGG	0.577000		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)				16			22		0	0	1	0	0
SHBG	6462	broad.mit.edu	37	17	7534020	7534020	+	Nonsense_Mutation	SNP	C	T	T			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr17:7534020C>T	uc002gie.2	+	2	264	c.226C>T	c.(226-228)Cga>Tga	p.R76*	SHBG_uc010cmu.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmo.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmp.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmq.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmr.2_Nonsense_Mutation_p.R18*|SHBG_uc010cms.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmt.2_Nonsense_Mutation_p.R18*|SAT2_uc002gib.1_5'Flank|SAT2_uc002gic.2_5'Flank|SHBG_uc010cmz.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmv.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmw.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmx.2_Nonsense_Mutation_p.R18*|SHBG_uc010cmy.2_Nonsense_Mutation_p.R18*|SHBG_uc002gid.3_Nonsense_Mutation_p.R18*|SHBG_uc010cnd.2_Nonsense_Mutation_p.R76*|SHBG_uc010cna.2_Nonsense_Mutation_p.R76*|SHBG_uc010vue.1_Nonsense_Mutation_p.R76*|SHBG_uc010vuf.1_Nonsense_Mutation_p.R76*|SHBG_uc010cnb.2_Nonsense_Mutation_p.R76*|SHBG_uc010cnc.2_Nonsense_Mutation_p.R76*	NM_001040	NP_001031	P04278	SHBG_HUMAN	Homo sapiens sex hormone-binding globulin (SHBG), transcript variant 1, mRNA.	76	Laminin G-like 1.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	CTTTGAGGTTCGAACCTGGGA	0.502000														17			31		0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186978580	186978581	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:186978580_186978581insG	uc003frh.2	-	3	885_886	c.495_496insC	c.(493-498)tactgcfs	p.Y165fs	MASP1_uc003fri.3_Frame_Shift_Ins_p.Y165fs|MASP1_uc003frj.3_Frame_Shift_Ins_p.Y134fs|MASP1_uc003frk.2_Frame_Shift_Ins_p.Y165fs|MASP1_uc011bse.2_Frame_Shift_Ins_p.Y139fs	NM_001879	NP_001870	P48740	MASP1_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA.	165	EGF-like; calcium-binding.|Homodimerization (By similarity).|Interaction with FCN2.|Interaction with MBL2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CGGCAGGAGCAGTAGTAGCCGC	0.554													---	178	---	---	8	---					
SENP5	205564	broad.mit.edu	37	3	196613140	196613142	+	In_Frame_Del	DEL	CTC	-	-			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr3:196613140_196613142delCTC	uc003fwz.4	+	1	1337_1339	c.1088_1090delCTC	c.(1087-1092)tctcct>tct	p.P364del	SENP5_uc011bty.2_In_Frame_Del_p.P364del	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	364					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		TCCTGTTCTTCTCCTAAGTGGGA	0.453													---	74	---	---	55	---					
ARMC5	79798	broad.mit.edu	37	16	31471187	31471189	+	In_Frame_Del	DEL	GTC	-	-			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr16:31471187_31471189delGTC	uc010vfn.2	+	2	751_753	c.627_629delGTC	c.(625-630)gtgtcg>gtg	p.S213del	ARMC5_uc010vfo.2_In_Frame_Del_p.S150del|ARMC5_uc002ecc.3_In_Frame_Del_p.S118del|ARMC5_uc002eca.4_In_Frame_Del_p.S118del|ARMC5_uc002ecb.2_In_Frame_Del_p.S118del|ARMC5_uc010vfp.2_In_Frame_Del_p.S118del	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	118							binding	p.S212F(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ccTCCGCTGTGTCGTCGTCTAGT	0.734													---	9	---	---	4	---					
RBCK1	10616	broad.mit.edu	37	20	400073	400074	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr20:400073_400074insG	uc002wdp.4	+	4	1236_1237	c.543_544insG	c.(541-546)cccggafs	p.P181fs	RBCK1_uc010zpl.1_Frame_Shift_Ins_p.P181fs|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Frame_Shift_Ins_p.P139fs|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Frame_Shift_Ins_p.P65fs	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	181	Interaction with IRF3.|Interaction with TAB2.				T cell receptor signaling pathway|interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				CCCAGGAACCCGGACGGGGGCA	0.668													---	180	---	---	8	---					
RHBDD3	25807	broad.mit.edu	37	22	29661514	29661515	+	Frame_Shift_Ins	INS	-	C	C			TCGA-KN-8434-01A-11D-2310-10	TCGA-KN-8434-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24f887e1-ce82-40f3-9674-11102bd076c0	2ba9cc49-f11b-48e0-8af9-90bad2c7cc92	g.chr22:29661514_29661515insC	uc003aeq.1	-	2	473_474	c.101_102insG	c.(100-102)ggcfs	p.G34fs	EWSR1_uc003aes.4_5'Flank|EWSR1_uc003aev.3_5'Flank|EWSR1_uc003aet.3_5'Flank|EWSR1_uc003aex.3_5'Flank|EWSR1_uc003aew.3_5'Flank	NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	34						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						CCAGGCCGGGGCCGGCCCCCAC	0.683													---	202	---	---	11	---					
