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
MYO3A	53904	broad.mit.edu	37	10	26285470	26285470	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr10:26285470G>A	ENST00000265944.5	+	5	521	c.355G>A	c.(355-357)Ggt>Agt	p.G119S	MYO3A_ENST00000376302.1_Missense_Mutation_p.G119S|MYO3A_ENST00000543632.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376301.1_Missense_Mutation_p.G119S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	119	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTGAAGAGGGGTGAAAGAAT	0.353000													11	85					0	0	1	0	0
KIAA1841	84542	broad.mit.edu	37	2	61310289	61310289	+	Splice_Site	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:61310289G>C	ENST00000402291.1	+	8	971	c.729_splice	c.e8-1	p.V244_splice	KIAA1841_ENST00000453873.1_Splice_Site_p.V244_splice|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Splice_Site_p.V244_splice|KIAA1841_ENST00000295031.5_Splice_Site_p.V244_splice	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	244										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTTTTAGGTTGAACAGTG	0.318000													15	41					0	0	1	0	0
ZNF334	55713	broad.mit.edu	37	20	45131229	45131229	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:45131229G>A	ENST00000457685.2	-	6	1958	c.635C>T	c.(634-636)tCt>tTt	p.S212F	ZNF334_ENST00000347606.4_Missense_Mutation_p.S250F|ZNF334_ENST00000593880.1_Missense_Mutation_p.S273F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATGAGGGTAGATCTCTTAGA	0.398000													52	101					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412957	63412957	+	Silent	SNP	A	A	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chrX:63412957A>G	ENST00000330258.3	-	2	482	c.210T>C	c.(208-210)ccT>ccC	p.P70P	AMER1_ENST00000403336.1_Silent_p.P70P|AMER1_ENST00000374869.3_Silent_p.P70P	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									CAAAGAAACTAGGCAGAGTAC	0.542000													13	72					0	0	1	0	0
ACOT4	122970	broad.mit.edu	37	14	74062179	74062179	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr14:74062179G>A	ENST00000326303.4	+	3	1341	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	363					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCATTACATCGAGCCTCCTTA	0.517000													5	124					0	0	1	0	0
CABP4	57010	broad.mit.edu	37	11	67222946	67222946	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr11:67222946C>T	ENST00000325656.5	+	1	129	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	CABP4_ENST00000542025.2_3'UTR|CABP4_ENST00000438189.2_Intron	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	18					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCATTGGCCGTCAGAAGCC	0.642000													20	15					0	0	1	0	0
ARMC8	25852	broad.mit.edu	37	3	137982663	137982663	+	Splice_Site	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:137982663G>C	ENST00000469044.1	+	13	1488	c.1217_splice	c.e13+1	p.R406_splice	NME9_ENST00000484930.1_Intron|ARMC8_ENST00000538260.1_Splice_Site_p.R375_splice|ARMC8_ENST00000393058.3_Splice_Site_p.R396_splice|ARMC8_ENST00000481646.1_Splice_Site_p.R392_splice|ARMC8_ENST00000485396.1_Splice_Site_p.R333_splice|NME9_ENST00000317876.4_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000461822.1_Splice_Site_p.R339_splice|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000491704.1_Splice_Site_p.R364_splice|NME9_ENST00000536478.1_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	406							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GCTGCCGTCAGGTATGAGCTT	0.398000													6	131					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73471779	73471779	+	Silent	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:73471779G>A	ENST00000358929.4	+	22	1516	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	ELN_ENST00000357036.5_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000380584.4_Intron			P15502	ELN_HUMAN	elastin	475	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGGTGTGCCGGGCACGGGAG	0.637000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						6	13					0	0	1	0	0
MED14	9282	broad.mit.edu	37	X	40534573	40534573	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chrX:40534573C>T	ENST00000324817.1	-	22	3039	c.2921G>A	c.(2920-2922)cGa>cAa	p.R974Q	MED14_ENST00000496531.1_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	974					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACCTTCTTCGAGCATCCTG	0.383000													3	31					0	0	1	0	0
SLC9A7P1	0	broad.mit.edu	37	12	98850195	98850195	+	RNA	SNP	C	C	T	rs829864	by1000genomes	TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:98850195C>T	ENST00000554295.1	-	0	728					NR_033801.1																						TCTCATAATCCTCATGAGCTT	0.423000													3	40					0	0	1	0	0
TRIM15	89870	broad.mit.edu	37	6	30134981	30134981	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:30134981T>C	ENST00000376694.4	+	2	879	c.410T>C	c.(409-411)cTg>cCg	p.L137P	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	137					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGGAAGCTCTGAGCACGGAG	0.453000													15	69					0	0	1	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446647	107446647	+	Missense_Mutation	SNP	C	C	T	rs144935783		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:107446647C>T	ENST00000409382.3	-	5	1803	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R398H|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R398H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	398					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R398H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTTTCTCTGACGATGCTGAAT	0.353000													13	150					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57422478	57422478	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:57422478G>C	ENST00000543257.1	-	4	765	c.199C>G	c.(199-201)Caa>Gaa	p.Q67E	C8B_ENST00000535057.1_Missense_Mutation_p.Q57E|C8B_ENST00000371237.4_Missense_Mutation_p.Q119E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	119	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCGCACTTGACTTCCGCAT	0.478000													16	422					0	0	1	0	0
WDR81	124997	broad.mit.edu	37	17	1639495	1639495	+	Missense_Mutation	SNP	G	G	A	rs145853218		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:1639495G>A	ENST00000409644.1	+	9	5488	c.5488G>A	c.(5488-5490)Gac>Aac	p.D1830N	WDR81_ENST00000309182.5_Missense_Mutation_p.D779N|WDR81_ENST00000446363.1_Missense_Mutation_p.D469N|WDR81_ENST00000419248.1_Missense_Mutation_p.D603N|WDR81_ENST00000437219.2_Missense_Mutation_p.D627N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.D461N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	603										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACGAGGGGGACATTCTGCA	0.677000													4	70					0	0	1	0	0
USP12	219333	broad.mit.edu	37	13	27680004	27680004	+	Silent	SNP	C	C	T	rs142426104		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr13:27680004C>T	ENST00000282344.6	-	3	463	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	69					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GACTCTTATACGCAAGAACTT	0.393000													19	70					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12779642	12779642	+	Silent	SNP	T	T	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:12779642T>G	ENST00000314124.7	-	7	773	c.417A>C	c.(415-417)ccA>ccC	p.P139P	TMEM40_ENST00000431022.2_Silent_p.P155P|TMEM40_ENST00000435575.1_Silent_p.P63P|TMEM40_ENST00000435218.2_Silent_p.P109P|TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000264728.8_Silent_p.P139P	NM_018306.2	NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	139						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TACCACTTGCTGGGTCAGAGC	0.557000													10	26					0	0	1	0	0
ZNF724P	0	broad.mit.edu	37	19	23405580	23405580	+	Silent	SNP	T	T	C	rs10412126	by1000genomes	TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr19:23405580T>C	ENST00000418100.1	-	4	1584	c.1467A>G	c.(1465-1467)ctA>ctG	p.L489L																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGTGTGAGGATAGGTTAAAAG	0.383000													5	38					0	0	1	0	0
DBF4B	80174	broad.mit.edu	37	17	42828250	42828250	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:42828250C>G	ENST00000315005.3	+	14	1615	c.1477C>G	c.(1477-1479)Cca>Gca	p.P493A	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	493					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTTAAGGGCCCACTCCTCTT	0.592000													49	103					0	0	1	0	0
USP43	124739	broad.mit.edu	37	17	9631874	9631874	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:9631874A>T	ENST00000570827.2	+	15	3080	c.2006A>T	c.(2005-2007)gAc>gTc	p.D669V	USP43_ENST00000570475.1_Missense_Mutation_p.D975V|USP43_ENST00000285199.6_Missense_Mutation_p.D980V			Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	980					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AACAGCAAAGACAGTCGCCGA	0.572000													12	31					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801555	185801555	+	Missense_Mutation	SNP	C	C	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:185801555C>G	ENST00000302277.6	+	4	2026	c.1432C>G	c.(1432-1434)Cca>Gca	p.P478A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	478						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAATAAGCCAGACTTAAA	0.343000													18	130					0	0	1	0	0
FMNL3	91010	broad.mit.edu	37	12	50044648	50044648	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:50044648T>A	ENST00000335154.5	-	17	2044	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	FMNL3_ENST00000550488.1_Missense_Mutation_p.D604V|FMNL3_ENST00000352151.5_Missense_Mutation_p.D553V|FMNL3_ENST00000293590.5_Missense_Mutation_p.D604V	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	604	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAAACTTATCAAGATCCAG	0.512000													14	56					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								29	65					0	0	1	0	0
RPLP0P2	0	broad.mit.edu	37	11	61404336	61404336	+	RNA	SNP	G	G	A	rs17626916	by1000genomes	TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr11:61404336G>A	ENST00000496593.1	+	0	940					NR_002775.2																						GCCATGACGCGCAAGGCCATC	0.587000													4	55					0	0	1	0	0
IL1RL2	8808	broad.mit.edu	37	2	102835531	102835531	+	Silent	SNP	A	A	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:102835531A>G	ENST00000264257.2	+	7	969	c.843A>G	c.(841-843)agA>agG	p.R281R	IL1RL2_ENST00000441515.2_Silent_p.R163R|IL1RL2_ENST00000539491.1_Silent_p.R281R|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	281	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AACGAATCAGAGAAGGGGTGG	0.403000													43	91					0	0	1	0	0
AP2M1	1173	broad.mit.edu	37	3	183898930	183898930	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:183898930G>C	ENST00000382456.3	+	6	931	c.617G>C	c.(616-618)gGc>gCc	p.G206A	AP2M1_ENST00000292807.5_Missense_Mutation_p.G208A|AP2M1_ENST00000411763.2_Missense_Mutation_p.G233A|AP2M1_ENST00000439647.1_Missense_Mutation_p.G206A|AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	208	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTGAGTGGCATGCCTGAA	0.537000													35	199					0	0	1	0	0
CMTM7	0	broad.mit.edu	37	3	32483476	32483476	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:32483476G>A	ENST00000334983.5	+	2	540	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	CMTM7_ENST00000349718.4_Missense_Mutation_p.V102M	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	102	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTCTACCGCGTGCTCACCTG	0.537000													10	116					0	0	1	0	0
DAG1	1605	broad.mit.edu	37	3	49569023	49569023	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49569023A>G	ENST00000545947.1	+	6	1801	c.1079A>G	c.(1078-1080)gAt>gGt	p.D360G	DAG1_ENST00000541308.1_Missense_Mutation_p.D360G|DAG1_ENST00000539901.1_Missense_Mutation_p.D360G|DAG1_ENST00000538711.1_Missense_Mutation_p.D360G|DAG1_ENST00000515359.2_Missense_Mutation_p.D360G|DAG1_ENST00000308775.2_Missense_Mutation_p.D360G	NM_001177634.2	NP_001171105.1	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	360	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGTCAGGGATCCTGTTCCT	0.602000													35	191					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012760	73012760	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:73012760G>A	ENST00000261180.4	+	13	2372	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	759					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGCCAGCCGAGCTCTTTAT	0.368000													22	61					0	0	1	0	0
SOAT2	8435	broad.mit.edu	37	12	53517583	53517583	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:53517583T>A	ENST00000301466.3	+	14	1504	c.1444T>A	c.(1444-1446)Ttt>Att	p.F482I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	482					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GACCATGCTGTTTCTAGGCCA	0.577000													23	55					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577000	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			46	16					0	0	1	0	0
FZD5	7855	broad.mit.edu	37	2	208632020	208632020	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:208632020G>T	ENST00000295417.3	-	2	1997	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	482					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCGCAGGTGAGCGCCGCCTCC	0.667000													7	30					8.12818e-05	8.2845e-05	1	1	0
DNMT3A	1788	broad.mit.edu	37	2	25457209	25457209	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:25457209C>T	ENST00000264709.3	-	23	3015	c.2678G>A	c.(2677-2679)tGg>tAg	p.W893*	DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W704*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W893*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W670*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	893					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W893S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACGCTCCATGACCGGCC	0.557000			"""Mis, F, N, S"""		AML								22	48					0	0	1	0	0
GPR63	0	broad.mit.edu	37	6	97246405	97246405	+	Silent	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:97246405C>T	ENST00000229955.3	-	2	1548	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	GPR63_ENST00000417980.1_Silent_p.K401K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	401						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTATCCGTCGCTTTGTGTGAC	0.478000													35	64					0	0	1	0	0
HELZ2	85441	broad.mit.edu	37	20	62196772	62196772	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:62196772C>T	ENST00000467148.1	-	8	3472	c.3403G>A	c.(3403-3405)Gtg>Atg	p.V1135M	HELZ2_ENST00000427522.2_Missense_Mutation_p.V566M	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GTCTCTGGCACGAAAGAGCAG	0.701000													4	22					0	0	1	0	0
BAIAP2L1	55971	broad.mit.edu	37	7	97941545	97941545	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:97941545C>T	ENST00000005260.8	-	8	886	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	224	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTGCCACCGAGGCAGCTT	0.448000													17	215					0	0	1	0	0
CDHR4	389118	broad.mit.edu	37	3	49836253	49836253	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49836253G>A	ENST00000343366.4	-	3	599	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	CDHR4_ENST00000487256.1_Silent_p.S167S|CDHR4_ENST00000412678.2_Intron			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CATGTTCTGGGCTTACCTGCG	0.597000													9	23					0	0	1	0	0
THSD4	79875	broad.mit.edu	37	15	71535120	71535120	+	Silent	SNP	C	C	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr15:71535120C>T	ENST00000355327.3	+	5	731	c.597C>T	c.(595-597)tcC>tcT	p.S199S	THSD4_ENST00000261862.6_Silent_p.S199S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	199	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCGCCATTCCAGGTCCCAGG	0.567000													11	114					0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	12	7867804	7867804	+	Silent	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:7867804G>A	ENST00000345088.2	+	2	225	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	36						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCTCCGAGACGTTGATAAAGA	0.453000													59	106					0	0	1	0	0
POGLUT1	56983	broad.mit.edu	37	3	119204196	119204196	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:119204196G>A	ENST00000295588.4	+	6	684	c.600G>A	c.(598-600)tgG>tgA	p.W200*		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	200						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AGTGGCCATGGAAAAAGAAAA	0.299000													12	44					0	0	1	0	0
FGFR4	2264	broad.mit.edu	37	5	176517585	176517585	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr5:176517585G>T	ENST00000292408.4	+	3	531	c.286G>T	c.(286-288)Gct>Tct	p.A96S	FGFR4_ENST00000502906.1_Missense_Mutation_p.A96S|FGFR4_ENST00000393648.2_Missense_Mutation_p.A96S|FGFR4_ENST00000292410.3_Missense_Mutation_p.A96S|FGFR4_ENST00000393637.1_Missense_Mutation_p.A96S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	96	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ACCTGAGGATGCTGGCCGCTA	0.607000										TSP Lung(9;0.080)			22	86					3.62473e-10	3.76688e-10	1	1	0
TNXB	7148	broad.mit.edu	37	6	32018082	32018082	+	Silent	SNP	G	G	A			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:32018082G>A	ENST00000375244.3	-	27	9333	c.9132C>T	c.(9130-9132)gcC>gcT	p.A3044A	TNXB_ENST00000375247.2_Silent_p.A3042A			P22105	TENX_HUMAN	tenascin XB	3089	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTGGTCTCGGCTTCATCCT	0.597000													37	63					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88964578	88964578	+	Missense_Mutation	SNP	A	A	C			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:88964578A>C	ENST00000333190.4	+	4	2891	c.2282A>C	c.(2281-2283)aAc>aCc	p.N761T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	761						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAAAGCACAACTGCTTCTAC	0.383000										HNSCC(36;0.09)			24	43					0	0	1	0	0
ASPM	259266	broad.mit.edu	37	1	197111767	197111768	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:197111767_197111768insT	ENST00000367409.4	-	3	1870_1871	c.1614_1615insA	c.(1612-1617)aaaagafs	p.R539fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.R539fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	539					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAAATCTTCTTTTTCCTTTT	0.322													19	125	---	---	---	---					
GPX1	2876	broad.mit.edu	37	3	49395674	49395676	+	In_Frame_Del	DEL	GCC	GCC	-	rs56041243		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49395674_49395676delGCC	ENST00000419783.1	-	1	357_359	c.36_38delGGC	c.(34-39)gcc>gc	p.AA12del	GPX1_ENST00000419349.1_In_Frame_Del_p.AA12del|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	12					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding	p.A12_A13delAA(1)		breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCGACTGGgccgccgccgccg	0.690													3	5	---	---	---	---					
PBX2P1	0	broad.mit.edu	37	3	142895155	142895155	+	RNA	DEL	C	C	-			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:142895155delC	ENST00000560287.1	+	0	29																											GGCCTCAGGGCCCCCCCCCAG	0.746													4	2	---	---	---	---					
KDM5A	5927	broad.mit.edu	37	12	416952	416953	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:416952_416953insT	ENST00000399788.2	-	23	3959_3960	c.3597_3598insA	c.(3595-3600)aagatcfs	p.I1200fs	KDM5A_ENST00000382815.4_Frame_Shift_Ins_p.I1200fs	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1200					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CAGCTGGATCCTTTTTTTTGGG	0.475			T	NUP98	AML								7	135	---	---	---	---					
AQP4-AS1	0	broad.mit.edu	37	18	24445878	24445880	+	RNA	DEL	TTT	TTT	-	rs68070007		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr18:24445878_24445880delTTT	ENST00000568797.1	+	0	53				AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA	NR_026908.1																						ATTTACTTAATTTTTTTTTTTTT	0.300													2	4	---	---	---	---					
CTB-52I2.8	0	broad.mit.edu	37	19	18092377	18092378	+	RNA	DEL	AG	AG	-	rs71844177		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr19:18092377_18092378delAG	ENST00000601725.1	+	0	133																											aaaaaaaaaaagaaagaaagaa	0.550													2	4	---	---	---	---					
