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
NBEA	26960	broad.mit.edu	37	13	35685017	35685017	+	Missense_Mutation	SNP	G	G	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr13:35685017G>T	ENST00000540320.1	+	13	2438	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	NBEA_ENST00000310336.4_Missense_Mutation_p.R635L|NBEA_ENST00000400445.3_Missense_Mutation_p.R635L|NBEA_ENST00000379939.2_Missense_Mutation_p.R635L			Q8NFP9	NBEA_HUMAN	neurobeachin	635						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCACCATACGCAGAGTAGGA	0.363000													3	68					0.115264	0.115264	1	1	0
ATRX	546	broad.mit.edu	37	X	76940454	76940454	+	Silent	SNP	T	T	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chrX:76940454T>G	ENST00000373344.5	-	8	853	c.639A>C	c.(637-639)tcA>tcC	p.S213S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.S175S	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	213	ADD.				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)	CCATTCCATCTGAGTCACGGC	0.308000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						44	46					0	0	1	0	0
PWWP2B	170394	broad.mit.edu	37	10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756000													5	3					0	0	1	0	0
HSP90AB1	3326	broad.mit.edu	37	6	44220861	44220861	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:44220861G>A	ENST00000371554.1	+	11	2025	c.1811G>A	c.(1810-1812)cGg>cAg	p.R604Q	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.R604Q|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.R604Q			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	604					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AATATGGAGCGGATCATGAAA	0.527000													3	72					0	0	1	0	0
WDR77	79084	broad.mit.edu	37	1	111985359	111985359	+	Missense_Mutation	SNP	A	A	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr1:111985359A>G	ENST00000235090.5	-	8	922	c.716T>C	c.(715-717)cTt>cCt	p.L239P	WDR77_ENST00000411751.2_Missense_Mutation_p.L175P|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	239					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTGTCCACAAGGGAGACTGT	0.483000													10	15					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119336927	119336927	+	Missense_Mutation	SNP	G	G	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr3:119336927G>T	ENST00000273371.4	+	7	888	c.816G>T	c.(814-816)gaG>gaT	p.E272D	PLA1A_ENST00000495992.1_Missense_Mutation_p.E256D|PLA1A_ENST00000494440.1_Missense_Mutation_p.E256D|PLA1A_ENST00000488919.1_Missense_Mutation_p.E99D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	272					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCGCCCTGGAGAATTCCTGTC	0.488000													7	217					8.12818e-05	8.46686e-05	1	1	0
ADD3	120	broad.mit.edu	37	10	111892082	111892082	+	Silent	SNP	C	C	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr10:111892082C>G	ENST00000356080.4	+	14	2119	c.1752C>G	c.(1750-1752)ctC>ctG	p.L584L	ADD3_ENST00000277900.8_Intron|ADD3_ENST00000360162.3_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	584						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		AGGAATTACTCTCAGATGACG	0.378000													36	39					0	0	1	0	0
TPTE2P6	0	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs149337771	by1000genomes	TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104																											TTGAAACAGCTGGTGTATTAA	0.373000													3	16					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	39					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152190973	152190973	+	Silent	SNP	G	G	A			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr1:152190973G>A	ENST00000368801.2	-	3	3207	c.3132C>T	c.(3130-3132)tcC>tcT	p.S1044S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1044					keratinization		calcium ion binding|protein binding	p.S1044S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCGGAGCCAGACT	0.582000													4	184					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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								30	26					0	0	1	0	0
SSTR3	0	broad.mit.edu	37	22	37603076	37603076	+	Missense_Mutation	SNP	G	G	A			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr22:37603076G>A	ENST00000328544.3	-	2	1300	c.767C>T	c.(766-768)aCg>aTg	p.T256M	SSTR3_ENST00000402501.1_Missense_Mutation_p.T256M	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	256					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CACCATGCGCGTGACCCTGCG	0.677000													4	49					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169244	33169244	+	Silent	SNP	A	A	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:33169244A>G	ENST00000374677.3	+	1	595	c.222A>G	c.(220-222)ggA>ggG	p.G74G	SLC39A7_ENST00000374675.3_Silent_p.G74G	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	74	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTGGCATGGACATACCCACG	0.547000													28	35					0	0	1	0	0
KDELR3	0	broad.mit.edu	37	22	38877361	38877361	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr22:38877361T>C	ENST00000216014.4	+	4	668	c.496T>C	c.(496-498)Tgg>Cgg	p.W166R	KDELR3_ENST00000409006.3_Missense_Mutation_p.W166R|KDELR3_ENST00000471268.1_3'UTR	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	166					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCTGGCTAACTGGATCAGGCG	0.478000													4	63					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156592666	156592666	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr5:156592666C>T	ENST00000302938.4	-	1	609	c.514G>A	c.(514-516)Gtc>Atc	p.V172I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	172						nucleus		p.V172I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAGATAGACAAGTTTTTCC	0.507000													14	156					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023771	18023771	+	Missense_Mutation	SNP	C	C	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:18023771C>T	ENST00000205890.5	+	2	1995	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	553	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGCGCCCACCGGGGCCTGGG	0.711000													5	3					0	0	1	0	0
DNAJA1	3301	broad.mit.edu	37	9	33029962	33029962	+	Missense_Mutation	SNP	G	G	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr9:33029962G>C	ENST00000330899.4	+	4	573	c.390G>C	c.(388-390)aaG>aaC	p.K130N	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	130					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CTCTGCAAAAGAATGTGATTT	0.328000													31	19					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108202455	108202455	+	Splice_Site	SNP	C	C	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:108202455C>T	ENST00000369002.4	-	18	2013		c.e18-1			NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTGCCACTCCTAGTAAACaa	0.313000													29	34					0	0	1	0	0
PLK2	10769	broad.mit.edu	37	5	57753314	57753314	+	Splice_Site	SNP	C	C	G			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr5:57753314C>G	ENST00000274289.3	-	6	1110		c.e6+1		PLK2_ENST00000502671.1_Splice_Site	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2						positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CATTTACTTACATTACACAGC	0.383000													3	74					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578443	7578443	+	Missense_Mutation	SNP	A	A	T			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:7578443A>T	ENST00000420246.2	-	5	619	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	TP53_ENST00000455263.2_Missense_Mutation_p.Y163N|TP53_ENST00000445888.2_Missense_Mutation_p.Y163N|TP53_ENST00000269305.4_Missense_Mutation_p.Y163N|TP53_ENST00000359597.4_Missense_Mutation_p.Y163N|TP53_ENST00000413465.2_Missense_Mutation_p.Y163N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)		GACTGCTTGTAGATGGCCATG	0.622000		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)			18	27					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450654	105450654	+	Missense_Mutation	SNP	T	T	A			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chrX:105450654T>A	ENST00000337685.2	+	5	2014	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	MUM1L1_ENST00000372552.1_Missense_Mutation_p.I410K|MUM1L1_ENST00000357175.2_Missense_Mutation_p.I410K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	410	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGCAGTGATAAAAAGTATC	0.348000													13	13					0	0	1	0	0
ZNF165	7718	broad.mit.edu	37	6	28056763	28056763	+	Missense_Mutation	SNP	T	T	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:28056763T>C	ENST00000377325.1	+	4	1529	c.973T>C	c.(973-975)Tct>Cct	p.S325P		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	325					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATATGGAAAATCTTTCAAGAG	0.363000													11	25					0	0	1	0	0
SLC51A	200931	broad.mit.edu	37	3	195955100	195955102	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr3:195955100_195955102delCTG	ENST00000296327.5	+	5	686_688	c.477_479delCTG	c.(475-480)ccc>cc	p.PC159del		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		ACACAGGCCCctgctgctgctgc	0.665													7	89	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25482939	25482940	+	RNA	INS	-	-	C			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr15:25482939_25482940insC	ENST00000453082.2	+	0	1979					NR_003343.1																						CCTCCTCTAGTCCCCCTAGATG	0.545													5	7	---	---	---	---					
PHB	5245	broad.mit.edu	37	17	47486742	47486742	+	Frame_Shift_Del	DEL	T	T	-			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:47486742delT	ENST00000300408.3	-	4	416	c.344delA	c.(343-345)gtfs	p.D115fs	RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Frame_Shift_Del_p.D115fs|PHB_ENST00000508009.1_5'UTR	NM_002634.2	NP_002625.1	P35232	PHB_HUMAN	prohibitin	115					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CACACGCTCATCATAGTCCTC	0.567													12	21	---	---	---	---					
