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
ZDHHC3	51304	broad.mit.edu	37	3	44974664	44974664	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:44974664C>T	ENST00000296127.3	-	5	829	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.A220T|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.A186T	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	186						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ATGATGAGGGCGTGCAAGGAA	0.527000													17	26					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62739953	62739953	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:62739953C>T	ENST00000371153.4	-	3	1201	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	275	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGAACAACACCTCTGCTTCT	0.537000													14	13					0	0	1	0	0
CLEC12B	387837	broad.mit.edu	37	12	10165410	10165410	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr12:10165410C>G	ENST00000396502.1	+	2	246	c.118C>G	c.(118-120)Cgt>Ggt	p.R40G	CLEC12B_ENST00000338896.5_Missense_Mutation_p.R40G|CLEC1B_ENST00000428126.2_Intron	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	40						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCCCATTTGGCGTCATGCTGC	0.463000													3	58					0	0	1	0	0
TAGAP	117289	broad.mit.edu	37	6	159457333	159457333	+	Silent	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr6:159457333G>A	ENST00000367066.3	-	10	2053	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TAGAP_ENST00000326965.6_Silent_p.H396H|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	574					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCGAGAGGGCGTGGGGTCTCA	0.612000													6	98					0	0	1	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198509705	198509705	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:198509705T>C	ENST00000309309.7	-	2	181	c.76A>G	c.(76-78)Aag>Gag	p.K26E	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K26E	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	26					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TTACTCTTCTTGGCTTCCTCT	0.493000													30	45					0	0	1	0	0
RNF17	56163	broad.mit.edu	37	13	25451163	25451163	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr13:25451163C>T	ENST00000255324.5	+	34	4664	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W	RNF17_ENST00000339524.3_Missense_Mutation_p.R548W|RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1538	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCATCTTATGCGGTATCCAGC	0.403000													23	50					0	0	1	0	0
SLC6A4	6532	broad.mit.edu	37	17	28537613	28537613	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:28537613C>T	ENST00000401766.2	-	10	1881	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	457					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.V457I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TTGGCCCAGACGTGTGGGAAC	0.597000													4	63					0	0	1	0	0
GIF	2694	broad.mit.edu	37	11	59604797	59604797	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:59604797T>C	ENST00000541311.1	-	6	880	c.646A>G	c.(646-648)Aaa>Gaa	p.K216E	GIF_ENST00000257248.2_Missense_Mutation_p.K241E			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	241					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTCCTTTTTAGATGGCTCA	0.438000													13	23					0	0	1	0	0
C15orf27	123591	broad.mit.edu	37	15	76449044	76449044	+	Missense_Mutation	SNP	A	A	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:76449044A>G	ENST00000388942.3	+	4	603	c.327A>G	c.(325-327)atA>atG	p.I109M		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	109						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCTGTGTAATATTGGTGGTGA	0.448000													28	49					0	0	1	0	0
CD36	948	broad.mit.edu	37	7	80302135	80302135	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr7:80302135T>C	ENST00000435819.1	+	15	1859	c.1175T>C	c.(1174-1176)tTg>tCg	p.L392S	CD36_ENST00000394788.3_Missense_Mutation_p.L392S|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000309881.7_Missense_Mutation_p.L392S|CD36_ENST00000538969.1_Missense_Mutation_p.L332S|CD36_ENST00000433696.2_Missense_Mutation_p.L353S|CD36_ENST00000447544.2_Missense_Mutation_p.L392S|CD36_ENST00000432207.1_Missense_Mutation_p.L392S|CD36_ENST00000534394.1_Missense_Mutation_p.L316S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	392					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTCAACCTATTGGTCAAGCCA	0.303000													9	50					0	0	1	0	0
FAM193A	8603	broad.mit.edu	37	4	2691417	2691417	+	Missense_Mutation	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr4:2691417C>T	ENST00000324666.5	+	12	1994	c.1643C>T	c.(1642-1644)cCa>cTa	p.P548L	FAM193A_ENST00000545951.1_Missense_Mutation_p.P548L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P548L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P548L|FAM193A_ENST00000502458.1_Missense_Mutation_p.P570L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	548										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ACTTTCTTGCCAGATACAATT	0.383000													4	50					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													3	23					0	0	1	0	0
ST14	6768	broad.mit.edu	37	11	130058057	130058057	+	Missense_Mutation	SNP	G	G	A	rs142893442		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:130058057G>A	ENST00000278742.5	+	2	548	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	44					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTCAACAACGTCAAGAAGGT	0.622000													9	13					0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33258005	33258005	+	Silent	SNP	G	G	T			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:33258005G>T	ENST00000314144.5	-	12	1528	c.1413C>A	c.(1411-1413)gtC>gtA	p.V471V	CCT6B_ENST00000436961.3_Silent_p.V426V|CCT6B_ENST00000421975.3_Silent_p.V434V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	471					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GTTTTGACTCGACATGCTCAG	0.333000													31	56					2.95478e-19	3.0861e-19	1	1	0
BCOR	54880	broad.mit.edu	37	X	39913577	39913577	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:39913577T>C	ENST00000342274.4	-	13	5011	c.4649A>G	c.(4648-4650)aAt>aGt	p.N1550S	BCOR_ENST00000397354.3_Missense_Mutation_p.N1550S|BCOR_ENST00000378455.4_Missense_Mutation_p.N1532S|BCOR_ENST00000378444.4_Missense_Mutation_p.N1584S|BCOR_ENST00000378463.1_Missense_Mutation_p.N427S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1584					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGGAGGTCATTTAAATAATC	0.423000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						9	3					0	0	1	0	0
CCNB3	85417	broad.mit.edu	37	X	50085216	50085216	+	Missense_Mutation	SNP	A	A	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:50085216A>C	ENST00000376042.1	+	9	3830	c.3532A>C	c.(3532-3534)Acc>Ccc	p.T1178P	CCNB3_ENST00000276014.7_Missense_Mutation_p.T1178P|CCNB3_ENST00000376038.1_Missense_Mutation_p.T74P|CCNB3_ENST00000348603.2_Missense_Mutation_p.T74P			Q8WWL7	CCNB3_HUMAN	cyclin B3	1178					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTGAGATGACCCATGAGAC	0.493000													5	58					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								26	43					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			22	7					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23887583	23887583	+	Silent	SNP	C	C	T	rs144465613	byFrequency	TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr14:23887583C>T	ENST00000355349.3	-	30	4167	c.4005G>A	c.(4003-4005)tcG>tcA	p.S1335S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1335					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.S1335S(3)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CATGCCGGGCCGACTGCAGTG	0.662000													4	47					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167162338	167162338	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr2:167162338G>A	ENST00000303354.6	-	5	903	c.563C>T	c.(562-564)cCg>cTg	p.P188L	SCN9A_ENST00000375387.4_Missense_Mutation_p.P188L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P187L|SCN9A_ENST00000409435.1_Missense_Mutation_p.P187L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	187						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGTTCCACGGGTCACGAAG	0.383000													7	70					0	0	1	0	0
MAPK4	5596	broad.mit.edu	37	18	48252529	48252529	+	Missense_Mutation	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr18:48252529G>A	ENST00000400384.2	+	5	2087	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	MAPK4_ENST00000540640.1_Missense_Mutation_p.D140N|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	351					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GTCCAACTGGGACACGTGCAG	0.587000													8	24					0	0	1	0	0
FSCN3	29999	broad.mit.edu	37	7	127235774	127235774	+	Silent	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr7:127235774T>C	ENST00000265825.5	+	2	777	c.558T>C	c.(556-558)gaT>gaC	p.D186D	FSCN3_ENST00000420086.2_Silent_p.D52D	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	186						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATTTCCGAGATGGATGCTACC	0.577000													23	85					0	0	1	0	0
SLC33A1	9197	broad.mit.edu	37	3	155546108	155546108	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:155546108G>C	ENST00000392845.3	-	6	1921	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S514C			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACAAATAATGGACTCCACATA	0.348000													24	28					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													3	50					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803646	142803646	+	RNA	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:142803646G>A	ENST00000423385.1	-	0	1319																											gttgtattctgggctagacat	0.299000													6	34					0	0	1	0	0
KRTAP12-4	386684	broad.mit.edu	37	21	46074320	46074320	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr21:46074320C>G	ENST00000391618.1	-	1	256	c.212G>C	c.(211-213)tGt>tCt	p.C71S	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	71	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						CACAGGCACACAGCAGGCCAC	0.647000													13	29					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117717388	117717388	+	Silent	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr6:117717388T>C	ENST00000368508.3	-	8	1017	c.819A>G	c.(817-819)ccA>ccG	p.P273P	ROS1_ENST00000368507.3_Silent_p.P282P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	273	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCTGCTTCTGGACCCTCAC	0.438000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								5	102					0	0	1	0	0
CLDN16	10686	broad.mit.edu	37	3	190126225	190126225	+	Missense_Mutation	SNP	G	G	A	rs104893721		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:190126225G>A	ENST00000264734.2	+	4	963	c.715G>A	c.(715-717)Gga>Aga	p.G239R	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	239			G -> R (in HOMG3).		calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGTTGGCTCGGAATGGCTGG	0.383000													46	55					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6483848	6483848	+	Silent	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr12:6483848T>C	ENST00000358945.3	-	1	542	c.102A>G	c.(100-102)gaA>gaG	p.E34E	SCNN1A_ENST00000360168.3_Silent_p.E93E|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Silent_p.E34E|SCNN1A_ENST00000543768.1_Silent_p.E57E|SCNN1A_ENST00000228916.2_Silent_p.E34E			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	34					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCGCCGCAGGTTCGGGGCCCA	0.642000													6	35					0	0	1	0	0
PSMB10	5699	broad.mit.edu	37	16	67968568	67968568	+	Silent	SNP	G	G	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr16:67968568G>A	ENST00000358514.4	-	8	1054	c.717C>T	c.(715-717)ggC>ggT	p.G239G	CTC-479C5.12_ENST00000573493.1_3'UTR	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	p.G239G(2)		NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		AGTGGTAGCGGCCAGACCTGG	0.597000													3	75					0	0	1	0	0
PSMC1	5700	broad.mit.edu	37	14	90722942	90722942	+	Translation_Start_Site	SNP	A	A	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr14:90722942A>G	ENST00000261303.8	+	1	104	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PSMC1_ENST00000543772.2_5'UTR	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	1					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CCAAGGCAAGATGGTGAGTGA	0.622000													9	5					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	3078916	3078916	+	Missense_Mutation	SNP	C	C	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:3078916C>A	ENST00000397461.1	+	17	2380	c.1996C>A	c.(1996-1998)Cct>Act	p.P666T	CNTN4_ENST00000448906.2_Missense_Mutation_p.P338T|CNTN4_ENST00000397459.2_Missense_Mutation_p.P338T|CNTN4_ENST00000358480.3_Missense_Mutation_p.P447T|CNTN4_ENST00000418658.1_Missense_Mutation_p.P666T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P666T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	666	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGGTTTGAACCCTTGGGTTGA	0.507000													98	123					6.42612e-47	6.86427e-47	1	1	0
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													4	18					0	0	1	0	0
USP3	9960	broad.mit.edu	37	15	63855173	63855173	+	Translation_Start_Site	SNP	T	T	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:63855173T>G	ENST00000539772.1	+	0	255				USP3_ENST00000268049.7_Missense_Mutation_p.F221V|USP3_ENST00000559711.1_Missense_Mutation_p.F154V|USP3_ENST00000540797.1_Missense_Mutation_p.F199V|USP3_ENST00000380324.3_Missense_Mutation_p.F243V|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.F226V			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3						DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAGTCCTTATTTTATGTTGT	0.343000													32	57					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55581623	55581623	+	Missense_Mutation	SNP	G	G	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr10:55581623G>C	ENST00000361849.3	-	34	6263	c.5869C>G	c.(5869-5871)Ctg>Gtg	p.L1957V	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1915V|PCDH15_ENST00000373957.3_Missense_Mutation_p.L809V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1932V|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1886V|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1952V|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1955V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1955					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAACATTACAGTGAAGTAGAT	0.338000										HNSCC(58;0.16)			35	53					0	0	1	0	0
ZNF202	7753	broad.mit.edu	37	11	123598184	123598184	+	Splice_Site	SNP	C	C	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:123598184C>G	ENST00000336139.4	-	7	1314	c.952G>C	c.(952-954)Gga>Cga	p.G318R	ZNF202_ENST00000530393.1_Splice_Site_p.G318R|ZNF202_ENST00000529691.1_Splice_Site_p.G318R			O95125	ZN202_HUMAN	zinc finger protein 202	318					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CATTCCTCACCTGTGTAGGTA	0.512000													4	50					0	0	1	0	0
VPS18	57617	broad.mit.edu	37	15	41191832	41191832	+	Missense_Mutation	SNP	C	C	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:41191832C>G	ENST00000220509.5	+	4	1155	c.816C>G	c.(814-816)ttC>ttG	p.F272L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	272					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGTTGGCCTTCTACACCCCCA	0.622000													32	38					0	0	1	0	0
PTEN	5728	broad.mit.edu	37	10	89725053	89725053	+	Missense_Mutation	SNP	T	T	C			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr10:89725053T>C	ENST00000371953.3	+	9	2393	c.1036T>C	c.(1036-1038)Tac>Cac	p.Y346H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	346	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGAAGCTGTACTTCACAAA	0.323000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			9	18					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14797510	14797510	+	Missense_Mutation	SNP	T	T	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr9:14797510T>G	ENST00000380881.4	-	22	4643	c.3828A>C	c.(3826-3828)aaA>aaC	p.K1276N	FREM1_ENST00000380880.3_Missense_Mutation_p.K1275N|FREM1_ENST00000422223.2_Missense_Mutation_p.K1275N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1275					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGCATTGGTTTTTCATCAT	0.378000													15	34					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120491682	120491683	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:120491682_120491683delTT	ENST00000256646.2	-	16	2765_2766	c.2546_2547delAA	c.(2545-2547)aaafs	p.K849fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	849	EGF-like 22.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGTGACTCTTTGCAAACAGC	0.426			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	95	---	---	---	---					
CGN	57530	broad.mit.edu	37	1	151499471	151499473	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:151499471_151499473delAGA	ENST00000271636.7	+	10	1917_1919	c.1784_1786delAGA	c.(1783-1788)gagaag>gag	p.K596del		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	590	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCGAATGGAGAAGGAGGAGAT	0.527													18	35	---	---	---	---					
SH3D19	152503	broad.mit.edu	37	4	152053505	152053506	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr4:152053505_152053506delTC	ENST00000409598.4	-	17	3046_3047	c.1879_1880delGA	c.(1879-1881)gaafs	p.E627fs	SH3D19_ENST00000455740.1_Frame_Shift_Del_p.E627fs|SH3D19_ENST00000304527.4_Frame_Shift_Del_p.E650fs|SH3D19_ENST00000427414.2_Frame_Shift_Del_p.E591fs|SH3D19_ENST00000514152.1_Frame_Shift_Del_p.E627fs|SH3D19_ENST00000424281.1_Frame_Shift_Del_p.E591fs|SH3D19_ENST00000409252.2_Frame_Shift_Del_p.E650fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	650	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAGAATCTTCTTTTTTGGTT	0.366													19	61	---	---	---	---					
CTB-161M19.4	0	broad.mit.edu	37	5	118345657	118345658	+	RNA	INS	-	-	A			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr5:118345657_118345658insA	ENST00000506486.1	-	0	292																											ATCATTTTAAGAAAAGGCTGAA	0.401													2	4	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150824	65150825	+	RNA	INS	-	-	G			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr7:65150824_65150825insG	ENST00000430126.2	+	0	757																											TCACCCCCCCCCCCGTTAAAAT	0.470													2	4	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"""F, N, Mis"""		NSCLC								11	121	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)|p.R907*(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTAGGAAGTCGATCTCTTAAT	0.418			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						21	136	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939607	76939607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:76939607delA	ENST00000373344.5	-	9	1355	c.1141delT	c.(1141-1143)tcafs	p.S381fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S343fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	381					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	CTGATTTCTGAATTATCTGTT	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						125	44	---	---	---	---					
